Genomics England
GMS Panels
Panels
Genes and Entities

POC1A

POC1 centriolar protein A
OMIM: 614783
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PRIMORDIAL DWARFISM 615272, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 614813
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME, PRIMORDIAL DWARFISM
Green
in Severe insulin resistance and lipodystrophy syndromes
R-numbers: R158
Signed-off version 4.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, OMIM:614813, Insulin resistance, HP:0000855
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCPH, primary microcephaly, Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813, Microcephaly in adulthood, primordial dwarfism, SOFT syndrome
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813, Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813