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Cataracts

Gene: CTDP1

Amber List (moderate evidence)

CTDP1 (CTD phosphatase subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000060069
EnsemblGeneIds (GRCh37): ENSG00000060069
OMIM: 604927, Gene2Phenotype
CTDP1 is in 10 panels

4 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the new review, this gene has been promoted to Amber and tagged with "for-review" for the next round of GMS panel reviews so the new rating can be considered.
Created: 21 Dec 2020, 10:29 a.m. | Last Modified: 21 Dec 2020, 10:29 a.m.
Panel Version: 2.52

Zornitza Stark (Australian Genomics)

I don't know

Although it is a founder variant, the number of families reported is large and the population is not geographically restricted, i.e. is present in the UK. The gene is Green on the neuropathy and ID panels.
Created: 7 Jul 2020, 9:41 a.m. | Last Modified: 7 Jul 2020, 9:42 a.m.
Panel Version: 2.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168

Publications

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

c.863+389 C>T is the only mutation described, in Rudari Vlax Roma population with congenital cataracts with facial dysmorphism and neuropathy (CCFDN)
Created: 2 Jun 2016, 1:20 p.m.

Phenotypes
Congenital cataracts, facial dysmorphism, and neuropathy, 604168

Publications

  • Varon et al (2003) Nature Genet. 35: 185-189

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

Ellen McDonagh (Genomics England Curator)

I don't know

Comment when marking as ready: Should remain red due to expert review.
Created: 2 Jun 2016, 1:38 p.m.
Not on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME.
Created: 29 Apr 2016, 10:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168, MONDO:0011402
Tags
founder-effect for-review
OMIM
604927
Clinvar variants
Variants in CTDP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ctdp1 has been classified as Amber List (Moderate Evidence).

21 Dec 2020, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: CTDP1.

16 Dec 2020, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag founder-effect tag was added to gene: CTDP1.

16 Dec 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CTDP1 were set to 14517542; 24690360; 14517542

16 Dec 2020, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CTDP1 were changed from Congenital cataracts, facial dysmorphism, and neuropathy, 604168 to Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168, MONDO:0011402

16 Dec 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CTDP1 were set to

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CTDP1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen