EXOSC3

exosome component 3
OMIM: 606489
PanelMode of inheritanceDetails
8 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 1B 614678
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar Hypoplasia, Pontocerebellar hypoplasia, type 1B, 614678, Pontocerebellar Hypoplasia type 1B
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PONTOCEREBELLAR HYPOPLASIA TYPE 1
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 1B, 614678
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 1B, 614678, Pontocerebellar hypoplasia, type 1B, 614678
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PONTOCEREBELLAR HYPOPLASIA TYPE 1
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.30
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 1B 614678