POC1A

POC1 centriolar protein A
OMIM: 614783, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red POC1A in Insulin resistance (including lipodystrophy) Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
Green POC1A in Lipodystrophy - childhood onset Level 2: Endocrinology Version 4.67 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, OMIM:614813 Insulin resistance, HP:0000855
No list POC1A in Monogenic diabetes Level 2: Endocrinology Version 3.8 Latest signed off version: v3.0 (30 Apr 2025)	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 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	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 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) 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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
Green POC1A in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) 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 1.180	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813