CLP1

cleavage and polyadenylation factor I subunit 1
OMIM: 608757
PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 10, OMIM:615803, Pontocerebellar hypoplasia type 10, MONDO:0014349
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 10 OMIM:615803, Pontocerebellar hypoplasia type 10 MONDO:0014349