Genomics England

Genes and Entities

Cutaneous photosensitivity with a likely genetic cause (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: R237

Signed off date: 30 Nov 2022

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

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12 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ALAD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALAS2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ANAPC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPOX	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FECH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GATA1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Q3_21_expert_review, Q3_21_rating
Green	HMBS	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q3_22_rating, Q3_22_expert_review
Green	PPOX	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RECQL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UROD	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UROS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UVSSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A