Genomics England

Relevant disorders: Alport syndrome, Familial haematuria, R194

Signed off date: 30 Oct 2024

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off

5 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	COL4A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A3	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	COL4A4	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	COL4A5	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	N/A
Green	MYH9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A