Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
|
Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Yorkshire and North East GLH
- NHS GMS
- Expert list
Phenotypes
- Moyamoya disease, MONDO:0016820
- Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.17
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Literature
Phenotypes
- Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
- Insulin resistance, HP:0000855
|
Version 5.4
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review Green
- London South East RGC GSTT
- Viapath
Phenotypes
- Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
|
Version 4.52
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
- Insulin resistance, HP:0000855
|
Version 2.58
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Microcephalic osteodysplastic primordial dwarfism, type II
Tags
|
Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Other
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
- Microcephalic primordial dwarfism
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Disproportionate Short Stature
Tags
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
|
Version 3.95
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert list
Phenotypes
- Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0
(1 May 2024)
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
Phenotypes
- Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Microcephalic osteodysplastic primordial dwarfism, type II, 210720
|