Vici Syndrome and other autophagy disorders
Gene: CTDP1
CTDP1 (CTD phosphatase subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000060069
EnsemblGeneIds (GRCh37): ENSG00000060069
OMIM: 604927, Gene2Phenotype
CTDP1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000060069
EnsemblGeneIds (GRCh37): ENSG00000060069
OMIM: 604927, Gene2Phenotype
CTDP1 is in 9 panels
2 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: Radboud, Emory and literature sources support the link between mutations in this gene and CCFDN. However, a known disease linked with a founder mutation in the Roma-Gypsy population, with no cases found in the literature describing a patient with another background.Created: 16 Jun 2017, 2:15 p.m.
Ellen McDonagh (Genomics England Curator)
Is a confirmed DD gene for congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN).Created: 29 Apr 2016, 7:38 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Congenital cataracts, facial dysmorphism, and neuropathy syndrome
- Tags
- OMIM
- 604927
- Clinvar variants
- Variants in CTDP1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 Jul 2017, Gel status: 2
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
16 Jun 2017, Gel status: 2
Set publications
Olivia Niblock (Genomics England Curator)Publications for CTDP1 were set to 26927810; 16939648; 24690360
16 Jun 2017, Gel status: 2
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
29 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CTDP1 was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature
29 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CTDP1 was created by ellenmcdonagh