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NC_000006.12:g.(?_1610445)_(1612107_?)del AND Axenfeld-Rieger syndrome type 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 24, 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:
RCV000416555.2

Allele description [Variation Report for NC_000006.12:g.(?_1610445)_(1612107_?)del]

NC_000006.12:g.(?_1610445)_(1612107_?)del

Genes:
LOC129995601:ATAC-STARR-seq lymphoblastoid active region 23864 [Gene]
FOXC1:forkhead box C1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p25.3
Genomic location:
Preferred name:
NC_000006.12:g.(?_1610445)_(1612107_?)del
HGVS:
  • NC_000006.12:g.(?_1610445)_(1612107_?)del
  • NC_000006.11:g.(?_1610680)_(1612342_?)del
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
SCV000494267Genetics and Molecular Pathology, SA Pathology
no assertion criteria provided
Pathogenic
(Mar 24, 2015) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasianunknownyes11not providednot providednoclinical testing

Details of each submission

From Genetics and Molecular Pathology, SA Pathology, SCV000494267.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednoclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not provided1not provided

Last Updated: Oct 14, 2023