| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary neuropathy v1.353 | CTDP1 |
Louise Daugherty Source Expert Review Green was added to CTDP1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.352 | CTDP1 | Louise Daugherty edited their review of gene: CTDP1: Added comment: 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.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.63 | CTDP1 | Louise Daugherty reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.60 | CTDP1 |
Louise Daugherty 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.58 | CTDP1 | Natalie Forrester reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24690360, 16194727, 14517542; Phenotypes: Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.57 | CTDP1 | Louise Daugherty Source NHS GMS was added to CTDP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.56 | CTDP1 | Louise Daugherty Source South West GLH was added to CTDP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||