Genomics England
GMS Panels
Panels
Genes and Entities

SSBP1

single stranded DNA binding protein 1
OMIM: 600439
PanelMode of inheritanceDetails
3 panels
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Optic atrophy 13 with retinal and foveal abnormalities OMIM:165510
Green
in Retinal disorders
R-numbers: R32
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510