Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: CTDP1

Green List (high evidence)

CTDP1 (CTD phosphatase subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000060069
EnsemblGeneIds (GRCh37): ENSG00000060069
OMIM: 604927, Gene2Phenotype
CTDP1 is in 8 panels

1 review

Ken Lee Wan (Monash Health)

Green List (high evidence)

Most affected individuals (~80%) have delayed motor milestones/delayed early intellectual development.
Mechanism of disease causation: Reduced level/function of CTDP1 (PMID: 20301787).
Created: 2 Aug 2024, 5:32 a.m. | Last Modified: 2 Aug 2024, 5:32 a.m.
Panel Version: 0.6096

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0011402

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0011402
OMIM
604927
Clinvar variants
Variants in CTDP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctdp1 has been classified as Green List (High Evidence).

7 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTDP1 were changed from to congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0011402

7 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CTDP1 were set to

7 Aug 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CTDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTDP1 was added gene: CTDP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CTDP1 was set to Unknown