Genomics England

Relevant disorders: R46

Signed off date: 13 Mar 2025

Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off

5 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	COL25A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF21A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYF5	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PHOX2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBB3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A