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: 4 Mar 2020
Panel types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
20 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOthernucleotide-repeat-expansion, currently-ngs-unreportable
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypeN/A
Green
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
2p15p16.1 region (includes BCL11A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
17q21.3 recurrent region (includes KANSL1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypetreatable
Green
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypeN/A
Green
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypecnv, gene-therapy-trial
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A