Genomics England

INPP4A

inositol polyphosphate-4-phosphatase type I A

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, OMIM:621354, neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MONDO:0980699
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	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 Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes neurodevelopmental disorder, MONDO:0700092, epilepsy, MONDO:0005027, Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, OMIM:621354, neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MONDO:0980699
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, OMIM:621354, neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MONDO:0980699
Green in Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes neurodevelopmental disorder, MONDO:0700092, Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, OMIM:621354, neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MONDO:0980699
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, OMIM:621354, neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MONDO:0980699, neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071
Green in Severe microcephaly R-numbers: R88 Signed-off version 9.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes neurodevelopmental disorder, MONDO:0700092, microcephaly, MONDO:0001149, Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, OMIM:621354, neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MONDO:0980699