PIGV

phosphatidylinositol glycan anchor biosynthesis class V
OMIM: 610274
PanelMode of inheritanceDetails
7 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HPMRS1
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphosphatasia with mental retardation syndrome 1 239300, (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPERPHOSPHATASIA WITH MENTAL RETARDATION 239300
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPERPHOSPHATASIA WITH MENTAL RETARDATION
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation), Hyperphosphatasia with mental retardation syndrome 1 239300, (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphosphatasia with mental retardation syndrome 1, 239300, Hyperphosphatasia with Mental Retardation Syndrome, HYPERPHOSPHATASIA WITH MENTAL RETARDATION (HPMR)
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphosphatasia with mental retardation syndrome 1 239300