Genomics England

Relevant disorders: R202

Signed off date: 22 Mar 2023

Panel types: GMS Rare Disease, GMS signed-off

20 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ANKS6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP164	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJB11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GATM	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments	N/A
Green	HNF1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	INVS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAPKBP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MT-TF	MITOCHONDRIAL	N/A	gene-checked
Green	MUC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	NPHP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	REN	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SEC61A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TMEM67	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC21B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UMOD	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	WDR19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPNPEP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A