Genomics England
GMS Panels
Panels
Genes and Entities

CLP1

cleavage and polyadenylation factor I subunit 1
OMIM: 608757
PanelMode of inheritanceDetails
5 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 7.19
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 10 OMIM:615803, Pontocerebellar hypoplasia type 10 MONDO:0014349
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 10 OMIM:615803, Pontocerebellar hypoplasia type 10 MONDO:0014349
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 10, OMIM:615803, Pontocerebellar hypoplasia type 10, MONDO:0014349
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.163
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 10 OMIM:615803, Pontocerebellar hypoplasia type 10 MONDO:0014349
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 10 OMIM:615803, Pontocerebellar hypoplasia type 10 MONDO:0014349