POC1A

POC1 centriolar protein A
OMIM: 614783, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 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 2.1

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 1.74

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 1.203

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 0.346

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 2.0

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

Green POC1A in DDG2P


Version 1.148

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 2.1098

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 1.121

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