CTDP1

CTD phosphatase subunit 1
OMIM: 604927, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Amber CTDP1 in Vici Syndrome and other autophagy disorders

Level 3: Autophagy disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.2

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 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.8
Latest signed off version: v4.0 (22 Mar 2023)

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 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0 (22 Mar 2023)

review Not set
Sources
  • Expert Review Red
  • Expert list
Amber CTDP1 in Fetal anomalies


Version 3.136
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME
Green CTDP1 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

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 1.476

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    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


    Version 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Congenital cataracts, facial dysmorphism, and neuropathy, 604168
    Amber CTDP1 in Hereditary neuropathy or pain disorder


    Version 3.83
    Latest signed off version: v3.24 (15 May 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • South West GLH
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • NHS GMS
    • NHS GMS
    • South West GLH
    Phenotypes
    • Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)
    Green CTDP1 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital cataracts, facial dysmorphism, and neuropathy, 604168