Genes in panel

Hereditary neuropathy

Gene: CTDP1

Green List (high evidence)

CTDP1 (CTD phosphatase subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000060069
EnsemblGeneIds (GRCh37): ENSG00000060069
OMIM: 604927, Gene2Phenotype
CTDP1 is in 9 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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 Green
  • NHS GMS
  • South West GLH
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
Phenotypes
  • Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)
OMIM
604927
Clinvar variants
Variants in CTDP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CTDP1. Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) for gene: CTDP1 Publications for gene CTDP1 were changed from 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. to 14517542; 24690360; 16194727

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CTDP1.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to CTDP1.

10 May 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CTDP1 were set to Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)

10 May 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).

10 May 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CTDP1 was changed to BIALLELIC, autosomal or pseudoautosomal

10 May 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CTDP1 were set to 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.

10 May 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).

10 May 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CTDP1 were set to 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 - After clinical recognition of congenital cataracts facial dysmorphism neuropathy syndrome some years ago, we recently demonstrated the presence of the homozygous IVS6+389C>T mutation in the CTDP1 gene in this family.

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CTDP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CTDP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CTDP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CTDP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CTDP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CTDP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CTDP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CTDP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory