POC1A

POC1 centriolar protein A
OMIM: 614783, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green POC1A in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813
Green POC1A in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813
Green POC1A in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813
Red POC1A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813
Green POC1A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Radboud University Medical Center, Nijmegen NHS GMS Victorian Clinical Genetics Services Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
Green POC1A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)
Green POC1A in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813
Green POC1A in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)