PCYT1A:Ensemblv90

phosphate cytidylyltransferase 1, choline, alpha
OMIM: 123695, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Amber PCYT1A in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.28	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Lipodystrophy, congenital generalized, type 5, MIM# 620680
Green PCYT1A in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940 Lipodystrophy, congenital generalized, type 5, MIM# 620680
Green PCYT1A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.365	1 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 Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
Green PCYT1A in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.235 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940
Green PCYT1A 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 Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
Red PCYT1A in Fetal anomalies Version 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940
Green PCYT1A in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940
Amber PCYT1A in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Phenotypes Lipodystrophy, congenital generalized, type 5, MIM# 620680
Green PCYT1A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services NHS GMS Radboud University Medical Center, Nijmegen Expert list Expert Review Green Expert Review Green Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
Green PCYT1A in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources RetNet Expert Review Green Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940
Green PCYT1A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
Green PCYT1A in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940