Hereditary neuropathy
Gene: CTDP1
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.
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
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.
only 1 recessive intronic roma founder mutation knownCreated: 9 Dec 2015, 4:47 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Complex phenotypeCreated: 9 Dec 2015, 8:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Complex phenotypeCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source Expert Review Green was added to CTDP1. Rating Changed from Red List (low evidence) to Green List (high evidence)
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
Source NHS GMS was added to CTDP1.
Source South West GLH was added to CTDP1.
Phenotypes for CTDP1 were set to Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for CTDP1 was changed to BIALLELIC, autosomal or pseudoautosomal
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.
This gene has been classified as Red List (Low Evidence).
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.
Model of inheritance for gene CTDP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene CTDP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene CTDP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene CTDP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CTDP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene CTDP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CTDP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
CTDP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory