POC1A

POC1 centriolar protein A
OMIM: 614783, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red POC1A in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813

No list POC1A in Monogenic diabetes


Version 2.3
Signed off v.2.2 on 25 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

Green POC1A in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.6
Signed off v.2.2 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
  • Expert list
Phenotypes
  • MCPH
  • primary microcephaly
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
  • Microcephaly in adulthood
  • primordial dwarfism
  • SOFT syndrome

Green POC1A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.7
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
    • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813

    Green POC1A in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
    • PRIMORDIAL DWARFISM

    Red POC1A in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.6
    Signed off v.2.2 on 13 Feb 2020

    review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813

    Green POC1A in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PRIMORDIAL DWARFISM 615272
    • SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 614813

    Red POC1A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.73
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
    • SOFT syndrome

    Red POC1A in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.125

    review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813

    Green POC1A in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813