NM_004278.4(PIGL):c.274del (p.Leu92fs) AND CHIME syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 6, 2012
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:: RCV000023502.5

Allele description [Variation Report for NM_004278.4(PIGL):c.274del (p.Leu92fs)]

NM_004278.4(PIGL):c.274del (p.Leu92fs)

Gene:

PIGL:phosphatidylinositol glycan anchor biosynthesis class L [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_004278.4(PIGL):c.274del (p.Leu92fs)

HGVS:

NC_000017.11:g.16234009del
NG_032651.1:g.21815del
NM_004278.4:c.274delMANE SELECT
NP_004269.1:p.Leu92fs
NC_000017.10:g.16137323del
NM_004278.3:c.274delC

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

L92fs

Links:

OMIM: 605947.0002; dbSNP: rs758633805

NCBI 1000 Genomes Browser:

rs758633805

Molecular consequence:

NM_004278.4:c.274del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: CHIME syndrome (CHIME)
Synonyms:: Zunich neuroectodermal syndrome; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5; COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND EAR ANOMALIES SYNDROME
Identifiers:: MONDO: MONDO:0010221; MedGen: C1848392; Orphanet: 3474; OMIM: 280000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000044793	OMIM	no assertion criteria provided	Pathogenic (Apr 6, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000044793

OMIM

no assertion criteria provided

Pathogenic
(Apr 6, 2012)

germline

literature only

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

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

Citations

PubMed

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH.

Am J Hum Genet. 2012 Apr 6;90(4):685-8. doi: 10.1016/j.ajhg.2012.02.010. Epub 2012 Mar 22.

PubMed [citation]

PMID:: 22444671
PMCID:: PMC3322218

Details of each submission

From OMIM, SCV000044793.4

#	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 1-bp deletion in the PIGL gene (274delC) that was found in compound heterozygous state in 2 sibs with CHIME syndrome (CHIME; 280000) by Ng et al. (2012), see 605947.0001.

#	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

Last Updated: Dec 24, 2022

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