GRCh37/hg19 6p25.3(chr6:951385-1832936)x3 AND Axenfeld-Rieger syndrome type 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 9, 2015
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:
RCV000416532.2

Allele description [Variation Report for GRCh37/hg19 6p25.3(chr6:951385-1832936)x3]

GRCh37/hg19 6p25.3(chr6:951385-1832936)x3

Genes:
GMDS:GDP-mannose 4,6-dehydratase [Gene - OMIM - HGNC]
FOXC1:forkhead box C1 [Gene - OMIM - HGNC]
FOXF2:forkhead box F2 [Gene - OMIM - HGNC]
FOXQ1:forkhead box Q1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
6p25.3
Genomic location:
Chr6: 951385 - 1832936 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6p25.3(chr6:951385-1832936)x3
HGVS:
    Observations:
    1

    Condition(s)

    Name:
    Axenfeld-Rieger syndrome type 3 (RIEG3)
    Synonyms:
    Axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss; Rieger syndrome type 3; Anterior chamber cleavage syndrome; See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0011233; MedGen: C2678503; Orphanet: 782; OMIM: 602482

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000494266Genetics and Molecular Pathology, SA Pathology
    no assertion criteria provided
    		Pathogenic
    (Jun 9, 2015)     		maternalclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    Caucasianmaternalyes21not providednot providedyesclinical testing

    Details of each submission

    From Genetics and Molecular Pathology, SA Pathology, SCV000494266.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1Caucasian2not providedyesclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1maternalyesnot providednot providednot provided2not provided1not provided

    Last Updated: Jul 13, 2022