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Version 2.47
Latest signed off version: v2.0
(30 Nov 2022)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Expert list
Phenotypes
- Nevus comedonicus, somatic, OMIM:617025
Tags
- somatic
- Q3_23_promote_green
- Q3_23_NHS_review
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262
- Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660
- Lethal congenital contracture syndrome 10, OMIM:617022
- NEK9-related lethal skeletal dysplasia, MONDO:0014870
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Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- PAGE Additional Gene List
Phenotypes
- ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262
- Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660
- Lethal congenital contracture syndrome 10, OMIM:617022
- NEK9-related lethal skeletal dysplasia, MONDO:0014870
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