Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
- young onset diabetes, short stature and microcephaly with intellectual disability
- failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
- Expert Review
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert Review
Phenotypes
- young onset diabetes, short stature and microcephaly with intellectual disability
- failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies
|
Version 2.58
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Microcephaly, short stature, and impaired glucose metabolism 1, OMIM:616033
|
Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.88
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Other
Phenotypes
- Microcephaly, short stature, and impaired glucose metabolism 1
- 616033
- MSSGM1
- primary microcephaly
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Microcephaly, short stature and impaired glucose metabolism, 616033
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Microcephaly, short stature, and impaired glucose metabolism 1
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Microcephaly, short stature and impaired glucose metabolism, 616033
|
Version 3.90
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
- INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68, OMIM:618302
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
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
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Microcephaly, short stature, and impaired glucose metabolism 1, 616033
- Young onset diabetes, short stature and microcephaly with intellectual disability
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Microcephaly, short stature, and impaired glucose metabolism 1, 616033
|