Genomics England
GMS Panels
Panels
Genes and Entities

MFF

mitochondrial fission factor
OMIM: 614785
PanelMode of inheritanceDetails
6 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086, Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086