Genomics England
GMS Panels
Panels
Genes and Entities

PTDSS1

phosphatidylserine synthase 1
OMIM: 612792
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 151050
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lenz-Majewski hyperostotic dwarfism 151050