C21orf2

chromosome 21 open reading frame 2
OMIM: 603191, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green C21orf2 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Jeune/Axial Spondylomethaphyseal dysplasia Axial Spondylometaphyseal Dysplasia 602271 Tags new-gene-name
Green C21orf2 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Expert list Phenotypes Spondylometaphyseal dysplasia, axial 602271 Axial Spondylometaphyseal Dysplasia 602271 Tags new-gene-name
Green C21orf2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Axial Spondylometaphyseal Dysplasia Tags new-gene-name
Green C21orf2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Axial Spondylometaphyseal Dysplasia Tags new-gene-name
Green C21orf2 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Retinal dystrophy with macular staphyloma, 617547 Tags new-gene-name
Green C21orf2 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Jeune asphyxiating thoracic dystrophy (JATD) Retinal dystrophy with macular staphyloma, 617547 Spondylometaphyseal dysplasia, axial, 602271 Jeune Syndrome Tags new-gene-name
Green C21orf2 in Ophthalmological ciliopathies Level 2: Ophthalmology Version 5.11 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Jeune asphyxiating thoracic dystrophy (JATD) Jeune Syndrome Spondylometaphyseal dysplasia, axial, 602271 Retinal dystrophy with macular staphyloma, 617547 Tags new-gene-name
Green C21orf2 in Skeletal ciliopathies Level 2: Musculoskeletal Version 6.5 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Jeune asphyxiating thoracic dystrophy (JATD) Jeune Syndrome Spondylometaphyseal dysplasia, axial, 602271 Retinal dystrophy with macular staphyloma, 617547 Tags new-gene-name
Red C21orf2 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH Expert Review Red London North GLH Tags new-gene-name