GT/TP identifiers for the NHSE Digital Genomic Test Service are temporarily visible in PanelApp but are not yet in use in Genomics England systems

C2orf69

chromosome 2 open reading frame 69
Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green C2orf69 in White matter disorders and cerebral calcification - childhood onset Level 2: Neurology Version 8.7 Latest signed off version: v8.6 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Combined oxidative phosphorylation deficiency 53, OMIM:619423 Tags gene-checked
Green C2orf69 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 9.92 Latest signed off version: v9.91 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 53, OMIM:619423 Tags gene-checked
Green C2orf69 in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Combined oxidative phosphorylation deficiency 53, OMIM:619423 Tags gene-checked
Green C2orf69 in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.18 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 53, OMIM:619423 combined oxidative phosphorylation deficiency 53, MONDO:0030378 Tags gene-checked
Green C2orf69 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.1 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 53, OMIM:619423 Tags gene-checked
Green C2orf69 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.57 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Combined oxidative phosphorylation deficiency 53, OMIM:619423 Tags gene-checked
Green C2orf69 in Intellectual disability Level 2: Developmental disorders Version 11.1 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Combined oxidative phosphorylation deficiency 53, OMIM:619423 Tags gene-checked
Green C2orf69 in Mitochondrial disorders Level 2: Mitochondrial Version 10.19 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 53, OMIM:619423 Tags gene-checked