Genomics England
GMS Panels
Panels
Genes and Entities

INPP4A

inositol polyphosphate-4-phosphatase type I A
OMIM: 600916
PanelMode of inheritanceDetails
7 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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder, MONDO:0700092, Cerebellar hypoplasia, HP:0001321
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder, MONDO:0700092
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder, MONDO:0700092, epilepsy, MONDO:0005027
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder, MONDO:0700092, microcephaly, MONDO:0001149