C16orf62

chromosome 16 open reading frame 62
Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber C16orf62 in Chondrodysplasia punctata Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 3C/Ritscher-Schinzel-like syndrome Tags new-gene-name
Amber C16orf62 in Limb disorders Version 4.19 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 3C/Ritscher-Schinzel-like syndrome Tags new-gene-name
Amber C16orf62 in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.47	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 3C/Ritscher-Schinzel-like syndrome Tags new-gene-name
Amber C16orf62 in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.73	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 3C/Ritscher-Schinzel-like syndrome Tags new-gene-name
Amber C16orf62 in Skeletal dysplasia 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 Expert Review Amber Literature Phenotypes 3C/Ritscher-Schinzel-like syndrome Tags new-gene-name
Amber C16orf62 in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.51	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 3C/Ritscher-Schinzel-like syndrome Tags new-gene-name
Amber C16orf62 in Intellectual disability - microarray and sequencing 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 Expert Review Amber Literature Phenotypes 3C/Ritscher-Schinzel-like syndrome Tags new-gene-name
Amber C16orf62 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 3C/Ritscher-Schinzel-like syndrome Tags new-gene-name