Genomics England
GMS Panels
Panels
Genes and Entities

MFSD8

major facilitator superfamily domain containing 8
OMIM: 611124
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS 610951
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 7 610951
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 7 61095
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 7 OMIM:610951, neuronal ceroid lipofuscinosis 7 MONDO:0012588
Green
in Neuronal ceroid lipofuscinosis
R-numbers: R231
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Green
in Retinal disorders
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 7, 610951, Macular dystrophy with central cone involvement, 616170, Eye Disorders