1. Genes and Genomic Entities
  2. POC1A

POC1A

POC1 centriolar protein A
OMIM: 614783, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Red POC1A in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.16

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
Amber POC1A in Lipodystrophy - childhood onset


Version 4.50
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert list
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, OMIM:614813
  • Insulin resistance, HP:0000855
Tags
  • Q3_23_promote_green
  • Q3_23_NHS_review
No list POC1A in Monogenic diabetes


Version 2.57
Latest signed off version: v2.2 (25 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
Tags
  • curated_removed
Green POC1A in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.68
Latest signed off version: v4.0 (22 Mar 2023)

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 4.57
Latest signed off version: v4.0 (22 Mar 2023)

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 3.157
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
    Green POC1A in DDG2P


    Version 3.87
    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
    • PRIMORDIAL DWARFISM 615272
    • SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 614813
    Red POC1A in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    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 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 1.171

    		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 1.184

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