Genomics England

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

Relevant disorders: Regional overgrowth disorders, R110

Signed off date: 24 Feb 2020

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

8 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AKT1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	mosaicism
Green	AKT3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	mosaicism
Green	CCND2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDKN1C	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	PIK3CA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	mosaicism
Green	PIK3R2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTEN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RASA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A