Genomics England
GMS Panels
Panels
Genes and Entities

RNF220

ring finger protein 220
OMIM: 616136
PanelMode of inheritanceDetails
3 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, HP:0001251
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.39
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sensorineural hearing impairment, HP:0000407
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, MONDO:0019046, Abnormal corpus callosum morphology, HP:0001273