Genomics England

Paediatric disorders - additional genes (Version: )

This panel is a component of a whole genome sequencing super panel and is only requestable via the superpanel.

Signed off date: 30 Oct 2024

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

50 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	ACE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACTC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACTG2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACVR2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ADAMTS19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGTR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANOS1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ASCC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CFAP53	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CFC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHRNA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTU2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXI3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXL2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FOXP4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	GATA3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GDF1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GREB1L	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	HYAL2	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	IARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IER3IP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITGA8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRIG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYH7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYOCD	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NADSYN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHLRC2	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NOTCH3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	OTUD5	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PAPPA2	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PIGQ	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLVAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLXND1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	REN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RINT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIX2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked, structural-variant
Green	SOX11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	STN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAB2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX18	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMEM260	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOR1AIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TSPYL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WBP11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked

Paediatric disorders - additional genes (Version: 6.05.04.03.02.01.1)

Paediatric disorders - additional genes (Version: )