Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.66
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Expert Review Green
- NHS GMS
Phenotypes
- Microcephaly, short stature, and impaired glucose metabolism 2, 616817
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Version 2.50
Latest signed off version: v2.2
(25 Feb 2020)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817
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Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.315
Latest signed off version: v2.2
(2 Mar 2020)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
- Other
Phenotypes
- Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817
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Version 2.78
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- Severe microcephaly, short stature and intellectual disability
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Literature
Phenotypes
- Microcephaly, short stature, and impaired glucose metabolism 2, 616817
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Version 1.127
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Microcephaly, short stature, and impaired glucose metabolism 2, 616817
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