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Intellectual disability syndromic and non-syndromic

Gene: CTBP1

Green List (high evidence)

CTBP1 (C-terminal binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000159692
EnsemblGeneIds (GRCh37): ENSG00000159692
OMIM: 602618, Gene2Phenotype
CTBP1 is in 4 panels

1 review

Sebastian Lunke (Victorian Clinical Genetics Services)

From GEL: There are 12 individuals reported from 3 papers (2 papers from the same group). All 12 individuals have the same heterozygous missense variant (R331W in NM_001012614.1; R342W in NM_001328.2). It is a de novo variant in all cases except one where it's inherited from a somatic parent. The phenotype of all 12 is summarised in Table 1 of PMID:31041561. Global DD is a consistent feature (varying severity). ID is recorded in several patients. Developmental motor regression recorded in 4 patients (2 of which also had cognitive regression). Authors note that healthy individuals with heterozygous LOF alleles have been reported.
Sources: Expert list
Created: 27 Jan 2020, 6:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
OMIM
602618
Clinvar variants
Variants in CTBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctbp1 has been classified as Green List (High Evidence).

27 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctbp1 has been classified as Green List (High Evidence).

27 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctbp1 has been classified as Green List (High Evidence).

27 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sebastian Lunke (Victorian Clinical Genetics Services)

gene: CTBP1 was added gene: CTBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561 Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 gene: CTBP1 was marked as current diagnostic