CTDP1

CTD phosphatase subunit 1
OMIM: 604927, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber CTDP1 in Vici Syndrome and other autophagy disorders Level 3: Autophagy disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.3	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy syndrome Tags founder-effect
Amber CTDP1 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168, MONDO:0011402 Tags founder-effect
Red CTDP1 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Expert list
Amber CTDP1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168
Green CTDP1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME 604168
Green CTDP1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	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)
Green CTDP1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME (CCFDN)
Red CTDP1 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168
Green CTDP1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH UKGTN Emory Genetics Laboratory Expert list NHS GMS NHS GMS South West GLH Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168 congenital cataracts-facial dysmorphism-neuropathy syndrome, MONDO:0011402