Genomics England
GMS Panels
Panels
Genes and Entities

CTDP1

CTD phosphatase subunit 1
OMIM: 604927
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME 604168
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.163
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168, congenital cataracts-facial dysmorphism-neuropathy syndrome, MONDO:0011402
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital cataracts, facial dysmorphism, and neuropathy, 604168, CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME (CCFDN)