NM_052985.3(IFT122):c.21G>C (p.Trp7Cys) AND Cranioectodermal dysplasia 1

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

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 12, 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:: RCV000004901.4

Allele description

NM_052985.3(IFT122):c.21G>C (p.Trp7Cys)

Gene:

IFT122:intraflagellar transport 122 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.3

Genomic location:

Preferred name:

NM_052985.3(IFT122):c.21G>C (p.Trp7Cys)

HGVS:

NC_000003.12:g.129440351G>C
NG_023392.1:g.5227G>C
NM_001280545.1:c.-581G>C
NM_052985.3:c.21G>C
NP_443711.2:p.Trp7Cys
NC_000003.11:g.129159194G>C
NM_052985.2:c.21G>C
Q9HBG6:p.Trp7Cys

Protein change:

W7C; TRP7CYS

Links:

UniProtKB: Q9HBG6#VAR_063584; OMIM: 606045.0004; dbSNP: rs267607193

NCBI 1000 Genomes Browser:

rs267607193

Molecular consequence:

NM_001280545.1:c.-581G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_052985.3:c.21G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cranioectodermal dysplasia 1 (CED1)
Synonyms:: LEVIN SYNDROME I; Cranioectodermal Dysplasia
Identifiers:: MedGen: C0432235; Orphanet: 1515; OMIM: 218330

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025077	OMIM	no assertion criteria provided	Pathogenic (Jun 11, 2010)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000087023	GeneReviews	no assertion criteria provided	pathologic (Sep 12, 2013)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025077

OMIM

no assertion criteria provided

Pathogenic
(Jun 11, 2010)

germline

literature only

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

SCV000087023

GeneReviews

no assertion criteria provided

pathologic
(Sep 12, 2013)

not provided

curation

Help

Summary from all submissions

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

Citations

PubMed

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW.

Am J Hum Genet. 2010 Jun 11;86(6):949-56. doi: 10.1016/j.ajhg.2010.04.012. Epub 2010 May 20.

PubMed [citation]

PMID:: 20493458
PMCID:: PMC3032067

Details of each submission

From OMIM, SCV000025077.2

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

Description

For discussion of the trp7-to-cys (W7C) mutation in the IFT122 gene that was found in compound heterozygous state in a patient with cranioectodermal dysplasia (CED1; 218330) by Walczak-Sztulpa et al. (2010), see 606045.0003.

#	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, SCV000087023.1

#	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: Jun 21, 2018

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