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Hereditary neuropathy NOT PMP22 copy number

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

6 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype (dysmorphic, cataract) - founder mutation in Roma populations, intronic
Created: 6 Dec 2019, 3:36 p.m. | Last Modified: 6 Dec 2019, 3:36 p.m.
Panel Version: 0.44
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 3:35 p.m. | Last Modified: 6 Dec 2019, 3:35 p.m.
Panel Version: 0.44
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

Well characterised founder intronic mutation. Bristol currently don't cover this intronic region on our NGS panel but have Sanger primers designed to target it, using these we have identified one homozygous patient who had congenital demyelinating neuropathy. PMID:24690360 - 10 CCFDN children living in the Czech Republic. All patients are children of different ages, all of Gypsy origin born in the Czech Republic. Molecular genetic testing for the founder CTDP1 gene mutation was performed. All patients are homozygous for the c.863 + 389C>T mutation in the CTDP1 gene; PMID:16194727 - Demonstrated the presence of the homozygous IVS6+389C>T mutation in the CTDP1 gene in a family with congenital cataracts facial dysmorphism neuropathy. PMID: 14517542 - original report of this variant in an endogamous group of Vlax Roma.
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)

Publications

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Multiple publications showing a founder variant to be associated with Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in Roma populations. As this is a single founder variant, this gene should be red as examining loss-of-function variants would not be suitable.
Created: 10 May 2016, 1:41 p.m.

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

only 1 recessive intronic roma founder mutation known
Created: 9 Dec 2015, 4:47 p.m.

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

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Complex phenotype
Created: 9 Dec 2015, 8:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Complex phenotype
Created: 8 Dec 2015, 3:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • South West GLH
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
  • NHS GMS
  • NHS GMS
  • South West GLH
Phenotypes
  • Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)
OMIM
604927
Clinvar variants
Variants in CTDP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CTDP1 was added gene: CTDP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTDP1 were set to 16194727; 24690360; 14517542 Phenotypes for gene: CTDP1 were set to Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)