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  2. Ataxia - paediatric
  3. CTBP1
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Ataxia - paediatric

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Paediatric onset of ataxia and >3 cases reported.
Sources: Expert list
Created: 17 Apr 2020, 2:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 17 Apr 2020, 2:21 a.m.

Panel version: 0.163

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 12 unrelated individuals reported with this neurodevelopmental disorder.
Sources: Expert list
Created: 27 Jan 2020, 6:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

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

Created: 27 Jan 2020, 6:16 a.m.

Panel version: Imported from Mendeliome panel version 0.991

Details

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

History Filter Activity

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

17 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CTBP1 was added gene: CTBP1 was added to Ataxia - paediatric. 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, MIM#617915 Review for gene: CTBP1 was set to GREEN