C16orf62

chromosome 16 open reading frame 62
Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber C16orf62 in Chondrodysplasia punctata Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.7	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ritscher-Schinzel syndrome 3, OMIM:619135 Tags new-gene-name gene-checked
Amber C16orf62 in Limb disorders Level 2: Musculoskeletal Version 8.6 Latest signed off version: v8.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ritscher-Schinzel syndrome 3, OMIM:619135 Tags new-gene-name gene-checked
Amber C16orf62 in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.52	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ritscher-Schinzel syndrome 3, OMIM:619135 Tags new-gene-name gene-checked
Amber C16orf62 in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.87	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ritscher-Schinzel syndrome 3, OMIM:619135 Tags new-gene-name gene-checked
Amber C16orf62 in Skeletal dysplasia Level 2: Musculoskeletal Version 9.9 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ritscher-Schinzel syndrome 3, OMIM:619135 Tags new-gene-name gene-checked
Green C16orf62 in Fetal anomalies Level 2: Fetal (including NIPD) Version 7.7 Latest signed off version: v7.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ritscher-Schinzel syndrome 3, OMIM:619135 Tags new-gene-name gene-checked
Amber C16orf62 in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.57	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ritscher-Schinzel syndrome 3, OMIM:619135 Tags new-gene-name gene-checked
Amber C16orf62 in Intellectual disability Level 2: Developmental disorders Version 10.17 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ritscher-Schinzel syndrome 3, OMIM:619135 Tags new-gene-name gene-checked
Amber C16orf62 in Structural eye disease Level 2: Ophthalmology Version 5.5 Latest signed off version: v5.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ritscher-Schinzel syndrome 3, OMIM:619135 Tags new-gene-name gene-checked