Genomics England
GMS Panels
Panels
Genes and Entities

CRNKL1

crooked neck pre-mRNA splicing factor 1
OMIM: 610952
PanelMode of inheritanceDetails
4 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 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436, complex neurodevelopmental disorder, MONDO:0100038
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436, complex neurodevelopmental disorder, MONDO:0100038
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436, complex neurodevelopmental disorder, MONDO:0100038
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436, complex neurodevelopmental disorder, MONDO:0100038