Paediatric motor neuronopathies (Version 3.6)

The latest signed off version for the GMS is v3.3. The current version, shown here, may differ from the signed-off version.

Description

This panel is a component of super panels 'Neuromuscular disorders' (panel id 465) and 'Hypotonic infant' (panel id 490); it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

Panel Activity

11 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

Group: Other
Workplace: Other
Dragana Josifova (Guy's and St. Thomas' NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Arianna Tucci (Genomics England Curator)

Group: Other
Workplace: Other
Pinki Munot (Consultant )

Group: Other NHS organisation
Workplace: NHS clinical service
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

46 Entities

46 reviewed, 20 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 46 Entitiess
Green Green List (high evidence)	AR_CAG STR	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature NHS GMS Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags STR
Green Green List (high evidence)	ASAH1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950 Tags
Green Green List (high evidence)	BICD2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290 Tags
Green Green List (high evidence)	CHCHD10	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, Jokela type, OMIM:615048 Tags
Green Green List (high evidence)	DYNC1H1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600 Tags
Green Green List (high evidence)	EXOSC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678 Tags
Green Green List (high evidence)	IGHMBP2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Neuronopathy, distal hereditary motor, type VI, OMIM:604320 Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss ISCA-37404-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes microcephaly 105833 Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome Tags
Green Green List (high evidence)	2p15p16.1 region (includes BCL11A) Loss ISCA-37408-Loss Region	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies Tags
Green Green List (high evidence)	17q21.3 recurrent region (includes KANSL1) Loss ISCA-37420-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature Tags
Green Green List (high evidence)	4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37429-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Wolf-Hirschhorn syndrome, OMIM:194190 Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-37478-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes microcephaly Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome 105830 Tags
Green Green List (high evidence)	SLC52A2	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867 Hereditary sensory and autonomic neuropathy, MONDO:0015364 Tags treatable
Green Green List (high evidence)	SLC52A3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 Tags
Green Green List (high evidence)	SMN1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinal muscular atrophy 1, OMIM:253300 Spinal muscular atrophy 2, OMIM:253550 Spinal muscular atrophy 3, OMIM:253400 Spinal muscular atrophy 4, OMIM:271150 Tags cnv gene-therapy-trial
Green Green List (high evidence)	SPG11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099 Tags
Green Green List (high evidence)	TRIP4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866 Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209 Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806 Tags
Green Green List (high evidence)	TRPV4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Distal Congenital Nonprogressive Spinal Muscular Atrophy Brachyolmia type 3, OMIM:113500 Tags
Green Green List (high evidence)	UBA1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830 Tags
Green Green List (high evidence)	VRK1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pontocerebellar hypoplasia type 1A, OMIM:607596 Tags
Amber Amber List (moderate evidence)	ALS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Literature UKGTN Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Spastic paralysis, infantile onset ascending, OMIM:607225 Tags
Amber Amber List (moderate evidence)	ATP7A	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Menkes disease, OMIM:309400 Occipital horn syndrome, OMIM:304150 Spinal muscular atrophy, distal, X-linked 3, OMIM:300489 Tags
Amber Amber List (moderate evidence)	EXOSC8	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature UKGTN Phenotypes Pontocerebellar hypoplasia, type 1C, OMIM:616081 neuronopathy, distal hereditary motor, MONDO:0000075 Tags
Amber Amber List (moderate evidence)	HSPB1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Amber Phenotypes Neuropathy, distal hereditary motor, type IIB, OMIM:608634 Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595 Tags
Amber Amber List (moderate evidence)	HSPB8	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Amber Phenotypes Neuropathy, distal hereditary motor, type IIA, OMIM:158590 Tags
Amber Amber List (moderate evidence)	REEP1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes ?Neuronopathy, distal hereditary motor, type VB, OMIM:614751 Tags
Amber Amber List (moderate evidence)	SETX	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 Tags
Amber Amber List (moderate evidence)	VAPB	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980 Amyotrophic lateral sclerosis 8, OMIM:608627 Tags
Red Red List (low evidence)	AARS	4 reviews 2 red	Not set	Sources Expert Expert Review Red Tags new-gene-name
Red Red List (low evidence)	AR	7 reviews 2 green 1 red	Other	Sources Expert Review Red NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	BSCL2	2 reviews 1 green	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	DCTN1	1 review	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	DMPK	3 reviews 1 red	Other	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	DMPK_CTG STR	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red NHS GMS Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Red Red List (low evidence)	DNAJB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 Tags
Red Red List (low evidence)	FBXO38	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Neuronopathy, distal hereditary motor, type IID 615575 Tags
Red Red List (low evidence)	GARS	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Distal Spinal Muscular Atrophy Tags new-gene-name
Red Red List (low evidence)	HSPB3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Red Phenotypes ?Neuronopathy, distal hereditary motor, type IIC 613376 Tags
Red Red List (low evidence)	MEG3	2 reviews	Not set	Sources Expert Review Red Tags locus-type-rna-long-non-coding
Red Red List (low evidence)	PLEKHG5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Distal Spinal Muscular Atrophy Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 Tags
Red Red List (low evidence)	SIGMAR1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Radboud University Medical Center, Nijmegen Phenotypes ?Amyotrophic lateral sclerosis 16, juvenile 614373 Tags
Red Red List (low evidence)	SLC52A1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Tags
Red Red List (low evidence)	SLC5A7	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature UKGTN Phenotypes Neuronopathy, distal hereditary motor, type VIIA 158580 Tags
Red Red List (low evidence)	SNRPN	4 reviews 1 red	Other - please specifiy in evaluation comments	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Prader-Willi syndrome, OMIM:176270 Tags currently-ngs-unreportable
Red Red List (low evidence)	SYT2	2 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	UBQLN1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Brown-Vialetto-Van Laere syndrome/ atypical motor neurone disease Tags

Major version comments

2023-03-22 15:08 Eleanor Williams (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this

2022-11-30 14:09 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

Paediatric motor neuronopathies (Version 3.6)

11 reviewers

46 Entities

46 reviewed, 20 green

3 reviews

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2 reviews

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3 reviews

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3 reviews

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3 reviews

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3 reviews

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