Genomics England

Paediatric motor neuronopathies (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: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off

20 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AR_CAG STR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	STR
Green	ASAH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BICD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHCHD10	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYNC1H1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EXOSC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGHMBP2	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ISCA-37404-Loss 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37408-Loss 2p15p16.1 region (includes BCL11A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37420-Loss 17q21.3 recurrent region (includes KANSL1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37429-Loss 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37478-Loss 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC52A2	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	treatable
Green	SLC52A3	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SMN1	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	cnv, gene-therapy-trial
Green	SPG11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPV4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UBA1	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	VRK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Paediatric motor neuronopathies (Version: 3.83.73.63.32.01.30)

Paediatric motor neuronopathies (Version: )