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Single allele AND Anophthalmia-microphthalmia syndrome

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004009748.1

Allele description [Variation Report for Single allele]

Genes:
  • LOC129995605:ATAC-STARR-seq lymphoblastoid active region 23868 [Gene]
  • LOC129995606:ATAC-STARR-seq lymphoblastoid active region 23869 [Gene]
  • LOC129995607:ATAC-STARR-seq lymphoblastoid active region 23870 [Gene]
  • LOC129995609:ATAC-STARR-seq lymphoblastoid active region 23871 [Gene]
  • LOC129995611:ATAC-STARR-seq lymphoblastoid active region 23872 [Gene]
  • LOC129995615:ATAC-STARR-seq lymphoblastoid active region 23873 [Gene]
  • LOC129995616:ATAC-STARR-seq lymphoblastoid active region 23874 [Gene]
  • LOC129995617:ATAC-STARR-seq lymphoblastoid active region 23875 [Gene]
  • LOC129995618:ATAC-STARR-seq lymphoblastoid active region 23876 [Gene]
  • LOC129995619:ATAC-STARR-seq lymphoblastoid active region 23877 [Gene]
  • LOC129995620:ATAC-STARR-seq lymphoblastoid active region 23878 [Gene]
  • LOC129995621:ATAC-STARR-seq lymphoblastoid active region 23879 [Gene]
  • LOC129995626:ATAC-STARR-seq lymphoblastoid active region 23881 [Gene]
  • LOC129995627:ATAC-STARR-seq lymphoblastoid active region 23882 [Gene]
  • LOC129995634:ATAC-STARR-seq lymphoblastoid active region 23883 [Gene]
  • LOC129995636:ATAC-STARR-seq lymphoblastoid active region 23884 [Gene]
  • LOC129995637:ATAC-STARR-seq lymphoblastoid active region 23886 [Gene]
  • LOC129995641:ATAC-STARR-seq lymphoblastoid active region 23887 [Gene]
  • LOC129995642:ATAC-STARR-seq lymphoblastoid active region 23888 [Gene]
  • LOC129995643:ATAC-STARR-seq lymphoblastoid active region 23890 [Gene]
  • LOC129995644:ATAC-STARR-seq lymphoblastoid active region 23891 [Gene]
  • LOC129995645:ATAC-STARR-seq lymphoblastoid active region 23892 [Gene]
  • LOC129995652:ATAC-STARR-seq lymphoblastoid active region 23893 [Gene]
  • LOC129995653:ATAC-STARR-seq lymphoblastoid active region 23894 [Gene]
  • LOC129995654:ATAC-STARR-seq lymphoblastoid active region 23895 [Gene]
  • LOC129995655:ATAC-STARR-seq lymphoblastoid active region 23896 [Gene]
  • LOC129995659:ATAC-STARR-seq lymphoblastoid active region 23897 [Gene]
  • LOC129995608:ATAC-STARR-seq lymphoblastoid silent region 16825 [Gene]
  • LOC129995610:ATAC-STARR-seq lymphoblastoid silent region 16827 [Gene]
  • LOC129995612:ATAC-STARR-seq lymphoblastoid silent region 16830 [Gene]
  • LOC129995613:ATAC-STARR-seq lymphoblastoid silent region 16831 [Gene]
  • LOC129995614:ATAC-STARR-seq lymphoblastoid silent region 16832 [Gene]
  • LOC129995622:ATAC-STARR-seq lymphoblastoid silent region 16834 [Gene]
  • LOC129995623:ATAC-STARR-seq lymphoblastoid silent region 16836 [Gene]
  • LOC129995624:ATAC-STARR-seq lymphoblastoid silent region 16837 [Gene]
  • LOC129995625:ATAC-STARR-seq lymphoblastoid silent region 16839 [Gene]
  • LOC129995628:ATAC-STARR-seq lymphoblastoid silent region 16840 [Gene]
  • LOC129995629:ATAC-STARR-seq lymphoblastoid silent region 16841 [Gene]
  • LOC129995630:ATAC-STARR-seq lymphoblastoid silent region 16842 [Gene]
  • LOC129995631:ATAC-STARR-seq lymphoblastoid silent region 16843 [Gene]
  • LOC129995632:ATAC-STARR-seq lymphoblastoid silent region 16844 [Gene]
  • LOC129995633:ATAC-STARR-seq lymphoblastoid silent region 16845 [Gene]
  • LOC129995635:ATAC-STARR-seq lymphoblastoid silent region 16846 [Gene]
  • LOC129995638:ATAC-STARR-seq lymphoblastoid silent region 16850 [Gene]
  • LOC129995639:ATAC-STARR-seq lymphoblastoid silent region 16851 [Gene]
  • LOC129995640:ATAC-STARR-seq lymphoblastoid silent region 16852 [Gene]
  • LOC129995646:ATAC-STARR-seq lymphoblastoid silent region 16853 [Gene]
  • LOC129995647:ATAC-STARR-seq lymphoblastoid silent region 16854 [Gene]
  • LOC129995648:ATAC-STARR-seq lymphoblastoid silent region 16855 [Gene]
  • LOC129995649:ATAC-STARR-seq lymphoblastoid silent region 16856 [Gene]
  • LOC129995650:ATAC-STARR-seq lymphoblastoid silent region 16857 [Gene]
  • LOC129995651:ATAC-STARR-seq lymphoblastoid silent region 16858 [Gene]
  • LOC129995656:ATAC-STARR-seq lymphoblastoid silent region 16859 [Gene]
  • LOC129995657:ATAC-STARR-seq lymphoblastoid silent region 16860 [Gene]
  • LOC129995658:ATAC-STARR-seq lymphoblastoid silent region 16862 [Gene]
  • LOC126859554:BRD4-independent group 4 enhancer GRCh37_chr6:2434059-2435258 [Gene]
  • LOC126859558:BRD4-independent group 4 enhancer GRCh37_chr6:3899874-3901073 [Gene]
  • LOC126859560:BRD4-independent group 4 enhancer GRCh37_chr6:4466860-4468059 [Gene]
  • LOC126859557:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:3324264-3325463 [Gene]
  • CDYL-AS1:CDYL antisense RNA 1 [Gene - HGNC]
  • LOC116158537:CRISPRi-validated cis-regulatory element chr6.177 [Gene]
  • LOC116158538:CRISPRi-validated cis-regulatory element chr6.179 [Gene]
  • LOC116158539:CRISPRi-validated cis-regulatory element chr6.285 [Gene]
  • ECI2-DT:ECI2 divergent transcript [Gene - HGNC]
  • GMDS:GDP-mannose 4,6-dehydratase [Gene - OMIM - HGNC]
  • GMDS-DT:GMDS divergent transcript [Gene - HGNC]
  • LOC111429615:HNF4 motif-containing MPRA enhancer 213 [Gene]
  • LOC126859556:MED14-independent group 3 enhancer GRCh37_chr6:3023471-3024670 [Gene]
  • LOC126859559:MED14-independent group 3 enhancer GRCh37_chr6:4383813-4385012 [Gene]
  • LOC129389428:MPRA-validated peak5622 silencer [Gene]
  • LOC129389429:MPRA-validated peak5624 silencer [Gene]
  • NQO2:N-ribosyldihydronicotinamide:quinone dehydrogenase 2 [Gene - OMIM - HGNC]
  • NQO2-AS1:NQO2 antisense RNA 1 [Gene - HGNC]
  • LOC126859553:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:1952649-1953848 [Gene]
  • LOC126859555:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:2809907-2811106 [Gene]
  • LOC113174985:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:3209282-3210481 [Gene]
  • LOC126859561:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:4487436-4488635 [Gene]
  • LOC126859562:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:4864691-4865890 [Gene]
  • PXDC1:PX domain containing 1 [Gene - HGNC]
  • LOC108281148:SERPINB6-LINC01011 intergenic CAGE-defined mid-level expression enhancer [Gene]
  • SERPINB9-AS1:SERPINB9 antisense RNA 1 [Gene - HGNC]
  • LOC123575644:Sharpr-MPRA regulatory region 10202 [Gene]
  • LOC123575655:Sharpr-MPRA regulatory region 10234 [Gene]
  • LOC123575656:Sharpr-MPRA regulatory region 10864 [Gene]
  • LOC123575652:Sharpr-MPRA regulatory region 12113 [Gene]
  • LOC123575648:Sharpr-MPRA regulatory region 12329 [Gene]
  • LOC113174978:Sharpr-MPRA regulatory region 12426 [Gene]
  • LOC123575646:Sharpr-MPRA regulatory region 12436 [Gene]
  • LOC121740636:Sharpr-MPRA regulatory region 12515 [Gene]
  • LOC123575659:Sharpr-MPRA regulatory region 14796 [Gene]
  • LOC123575657:Sharpr-MPRA regulatory region 15708 [Gene]
  • LOC123575654:Sharpr-MPRA regulatory region 2334 [Gene]
  • LOC113174998:Sharpr-MPRA regulatory region 2502 [Gene]
  • LOC121099720:Sharpr-MPRA regulatory region 2671 [Gene]
  • LOC113174976:Sharpr-MPRA regulatory region 3200 [Gene]
  • LOC113174986:Sharpr-MPRA regulatory region 3383 [Gene]
  • LOC113174977:Sharpr-MPRA regulatory region 3960 [Gene]
  • LOC113174999:Sharpr-MPRA regulatory region 4929 [Gene]
  • LOC123575643:Sharpr-MPRA regulatory region 5333 [Gene]
  • LOC123575653:Sharpr-MPRA regulatory region 5686 [Gene]
  • LOC121740637:Sharpr-MPRA regulatory region 6592 [Gene]
  • LOC121099719:Sharpr-MPRA regulatory region 6984 [Gene]
  • LOC123575651:Sharpr-MPRA regulatory region 8607 [Gene]
  • LOC123575650:Sharpr-MPRA regulatory region 8965 [Gene]
  • LOC123575658:Sharpr-MPRA regulatory region 8997 [Gene]
  • LOC123575645:Sharpr-MPRA regulatory region 934 [Gene]
  • LOC121099721:Sharpr-MPRA regulatory region 9692 [Gene]
  • LOC110121091:VISTA enhancer hs1391 [Gene]
  • LOC110121246:VISTA enhancer hs2060 [Gene]
  • WRNIP1:WRN helicase interacting protein 1 [Gene - OMIM - HGNC]
  • BPHL:biphenyl hydrolase like [Gene - OMIM - HGNC]
  • CDYL:chromodomain Y like [Gene - OMIM - HGNC]
  • C6orf201:chromosome 6 open reading frame 201 [Gene - HGNC]
  • ECI2:enoyl-CoA delta isomerase 2 [Gene - OMIM - HGNC]
  • FAM217A:family with sequence similarity 217 member A [Gene - HGNC]
  • FAM50B:family with sequence similarity 50 member B [Gene - OMIM - HGNC]
  • LOC123575647:hESC enhancers GRCh37_chr6:2907997-2908830 and GRCh37_chr6:2908831-2909664 [Gene]
  • LOC123575649:hESC enhancers GRCh37_chr6:3165973-3166571 and GRCh37_chr6:3166572-3167171 [Gene]
  • LINC01011:long intergenic non-protein coding RNA 1011 [Gene - HGNC]
  • LINC01600:long intergenic non-protein coding RNA 1600 [Gene - HGNC]
  • LINC02521:long intergenic non-protein coding RNA 2521 [Gene - HGNC]
  • LINC02525:long intergenic non-protein coding RNA 2525 [Gene - HGNC]
  • LINC02533:long intergenic non-protein coding RNA 2533 [Gene - HGNC]
  • MIR4645:microRNA 4645 [Gene - HGNC]
  • MYLK4:myosin light chain kinase family member 4 [Gene - HGNC]
  • LOC106794091:nonconserved acetylation island sequence 71 enhancer [Gene]
  • PRP4K:pre-mRNA processing factor kinase PRP4K [Gene - OMIM - HGNC]
  • PSMG4:proteasome assembly chaperone 4 [Gene - OMIM - HGNC]
  • RIPK1:receptor interacting serine/threonine kinase 1 [Gene - OMIM - HGNC]
  • SERPINB1:serpin family B member 1 [Gene - OMIM - HGNC]
  • SERPINB6:serpin family B member 6 [Gene - OMIM - HGNC]
  • SERPINB9:serpin family B member 9 [Gene - OMIM - HGNC]
  • SLC22A23:solute carrier family 22 member 23 [Gene - OMIM - HGNC]
  • TUBB2A:tubulin beta 2A class IIa [Gene - OMIM - HGNC]
  • TUBB2B:tubulin beta 2B class IIb [Gene - OMIM - HGNC]
  • LOC100422781:uncharacterized LOC100422781 [Gene]
  • LOC100507336:uncharacterized LOC100507336 [Gene]
  • LOC101927759:uncharacterized LOC101927759 [Gene]
  • LOC101927888:uncharacterized LOC101927888 [Gene]
  • LOC102724096:uncharacterized LOC102724096 [Gene]
  • KU-MEL-3:uncharacterized LOC497048 [Gene]
  • LOC643327:uncharacterized LOC643327 [Gene]
Variant type:
Inversion
Cytogenetic location:
6p25.3-25.1
Genomic location:
Chr6: 1713354 - 4870965 (on Assembly GRCh38)
HGVS:
    Observations:
    1

    Condition(s)

    Name:
    Anophthalmia-microphthalmia syndrome
    Synonyms:
    Anophthalmia/Microphthalmia; Anophthalmia - microphthalmia
    Identifiers:
    MedGen: C5680330; Orphanet: 98555

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004042673Genetics Department, University Hospital of Toulouse
    no assertion criteria provided
    		Likely pathogenicde novoclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From Genetics Department, University Hospital of Toulouse, SCV004042673.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    11not providednot providedclinical testingnot provided

    Description

    De novo inversion of 3.15 Mb located 100 kb 3’ to the FOXC1 gene. Transcript analysis using conjunctival cells from affected proband has revealed monoallelic expression of FOXC1 consistent with impact on the expression of the gene.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: May 1, 2024