Genomics England
GMS Panels
Panels
Genes and Entities

MFSD8

major facilitator superfamily domain containing 8
OMIM: 611124
PanelMode of inheritanceDetails
9 panels
Green
in Ataxia and cerebellar anomalies - childhood onset
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies, childhood onset
Signed-off version 9.22
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 7 OMIM:610951, neuronal ceroid lipofuscinosis 7 MONDO:0012588
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS 610951
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 7 610951
Green
in Hereditary ataxia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 7 OMIM:610951, neuronal ceroid lipofuscinosis 7 MONDO:0012588
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 7 61095
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.10
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 3.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 7 OMIM:610951, neuronal ceroid lipofuscinosis 7 MONDO:0012588
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 7, 610951, Macular dystrophy with central cone involvement, 616170, Eye Disorders