Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Hyperphosphatasia with mental retardation syndrome 1, MIM:239300 and Hirschsprung disease
Tags
|
Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Hyperphosphatasia with mental retardation syndrome 1 239300
- (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.57
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Hyperphosphatasia with mental retardation syndrome 1 239300
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
- Hyperphosphatasia with mental retardation syndrome 1 239300
- (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
|
Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
- Hyperphosphatasia with mental retardation syndrome 1 239300
- (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
|
Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- HYPERPHOSPHATASIA WITH MENTAL RETARDATION
|
Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- HYPERPHOSPHATASIA WITH MENTAL RETARDATION 239300
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.109
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
- HPMRS1
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Hyperphosphatasia with mental retardation syndrome 1, 239300
- Hyperphosphatasia with Mental Retardation Syndrome
- HYPERPHOSPHATASIA WITH MENTAL RETARDATION (HPMR)
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hyperphosphatasia with mental retardation syndrome 1, 239300
|