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 - 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
Ataxia, HP:0001251
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 6.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sensorineural hearing impairment, HP:0000407
Green
in White matter disorders and cerebral calcification - childhood onset
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, MONDO:0019046, Abnormal corpus callosum morphology, HP:0001273