Genomics England
GMS Panels
Panels
Genes and Entities

PCYT1A

phosphate cytidylyltransferase 1, choline, alpha
OMIM: 123695
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY 608940
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940
Green
in Severe insulin resistance and lipodystrophy syndromes
R-numbers: R158
Signed-off version 4.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylometaphyseal dysplasia with cone-rod dystrophy, OMIM:608940, congenital generalized lipodystrophy, MONDO:0006536, Insulin resistance, HP:0000855
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylometaphyseal dysplasia with cone-rod dystrophy 608940, Spondylometaphyseal dysplasia with cone-rod dystrophy 608940