PCYT1A

phosphate cytidylyltransferase 1, choline, alpha
OMIM: 123695, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber PCYT1A in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.17	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 1.1891	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 0.285	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 Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
Green PCYT1A in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	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 0.109	review	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 1.255	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 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)