POC1A

POC1 centriolar protein A
OMIM: 614783, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green POC1A in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.250	1 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 1.4851	1 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 1.434	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813
Green POC1A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.780	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894
Green POC1A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.444	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen NHS GMS Victorian Clinical Genetics Services Phenotypes Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894
Green POC1A in Monogenic Diabetes Level 2: Endocrine disorders Version 0.224 Component of the following Super Panels: Metabolic Disorders Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894
Green POC1A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	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 1.576	1 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 2.17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813