U.S. flag

An official website of the United States government

NC_000006.11:g.(?_1610666)_(1612017_?)del AND Axenfeld-Rieger syndrome type 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 22, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003107400.2

Allele description

NC_000006.11:g.(?_1610666)_(1612017_?)del

Gene:
FOXC1:forkhead box C1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p25.3
Genomic location:
Chr6: 1610666 - 1612017 (on Assembly GRCh37)
Preferred name:
NC_000006.11:g.(?_1610666)_(1612017_?)del
HGVS:
NC_000006.11:g.(?_1610666)_(1612017_?)del

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003793580Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 22, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

Weisschuh N, Dressler P, Schuettauf F, Wolf C, Wissinger B, Gramer E.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3846-52. Erratum in: Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5162.

PubMed [citation]
PMID:
16936096

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

D'haene B, Meire F, Claerhout I, Kroes HY, Plomp A, Arens YH, de Ravel T, Casteels I, De Jaegere S, Hooghe S, Wuyts W, van den Ende J, Roulez F, Veenstra-Knol HE, Oldenburg RA, Giltay J, Verheij JB, de Faber JT, Menten B, De Paepe A, Kestelyn P, Leroy BP, et al.

Invest Ophthalmol Vis Sci. 2011 Jan 21;52(1):324-33. doi: 10.1167/iovs.10-5309.

PubMed [citation]
PMID:
20881294
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003793580.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant results in the deletion of part of exon 1 (c.-10_1342del) of the FOXC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FOXC1 are known to be pathogenic (PMID: 16936096, 20881294). A similar copy number variant has been observed in individual(s) with autosomal dominant anterior segment dysgenesis (Invitae). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 18, 2023