Genomics England

PGAP3

post-GPI attachment to proteins 3

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyperphosphatasia with impaired intellectual development syndrome 4, OMIM:615716
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyperphosphatasia with mental retardation syndrome 4 615716
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 615716
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyperphosphatasia with mental retardation syndrome 4