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

COL4A6

collagen type IV alpha 6 chain
OMIM: 303631, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red COL4A6 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.125	review	Not set	Sources Radboud University Medical Center, Nijmegen Expert Review Red Phenotypes diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4) diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4) (originally on Alport syndrome gene panel)
Amber COL4A6 in Monogenic hearing loss Level 2: Audiology Version 6.42 Latest signed off version: v6.34 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Expert Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Deafness, X-linked 6 , OMIM:300914 hearing loss, X-linked 6, MONDO:0010484 Tags Q3_26_promote_green
Red COL4A6 in Haematuria Level 2: Renal Version 2.20 Latest signed off version: v2.19 (12 Aug 2026) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	Not set	Sources NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4) diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4) (originally on Alport syndrome gene panel)
Red COL4A6 in Intellectual disability Level 2: Developmental disorders Version 11.17 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Expert Review Red Phenotypes ?Deafness, X-linked 6 300914