NM_003611.2(OFD1):c.413-10T>G AND Oral-facial-digital syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 28, 2013
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:: RCV000012296.15

Allele description

NM_003611.2(OFD1):c.413-10T>G

Gene:

OFD1:OFD1, centriole and centriolar satellite protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

Preferred name:

NM_003611.2(OFD1):c.413-10T>G

HGVS:

NC_000023.11:g.13744405T>G
NG_008872.1:g.14693T>G
NM_003611.2:c.413-10T>G
NC_000023.10:g.13762524T>G

Nucleotide change:

IVS5AS, T-G, -10

Links:

OMIM: 300170.0004; dbSNP: rs312262833

NCBI 1000 Genomes Browser:

rs312262833

Molecular consequence:

NM_003611.2:c.413-10T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Oral-facial-digital syndrome (OFD1)
Synonyms:: OFDS I; Papillon-Leage and Psaume Syndrome; Oral-Facial-Digital Syndrome Type I
Identifiers:: MedGen: C1510460; Orphanet: 2750; OMIM: 311200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032530	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000057950	GeneReviews	no assertion criteria provided	pathologic (Feb 28, 2013)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032530

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2002)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000057950

GeneReviews

no assertion criteria provided

pathologic
(Feb 28, 2013)

not provided

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.

Rakkolainen A, Ala-Mello S, Kristo P, Orpana A, Järvelä I.

J Med Genet. 2002 Apr;39(4):292-6. No abstract available.

PubMed [citation]

PMID:: 11950863
PMCID:: PMC1735103

Details of each submission

From OMIM, SCV000032530.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In affected members of a Finnish family with OFD I (311200) spanning 3 generations, Rakkolainen et al. (2002) identified a T-to-G change in intron 5 of the CXORF5 gene, located 10 nucleotides upstream of the starting nucleotide of exon 6, creating a novel splice acceptor site. Two affected members had polycystic kidney disease. No signs of retardation were detected in this family.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneReviews, SCV000057950.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Converted during submission to Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Apr 2, 2018

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