Motor Neurone Disease (Version 1.27)

Description

This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.

Genes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.

The original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.

Panel Activity

19 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Sue White (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Lauren Rogers (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Sarah Leigh (Genomics England)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Crystle Lee (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Lucy Spencer (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

78 Entities

78 reviewed, 42 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 78 Entitiess
Green Green List (high evidence)	ALS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100 MONDO: MONDO:0008780) Tags
Green Green List (high evidence)	ANXA11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Amytrophic lateral sclerosis 23 MIM#617839 Tags
Green Green List (high evidence)	ASCC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807 MIM#616867) Tags
Green Green List (high evidence)	ATL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 3A, autosomal dominant MIM#182600 Tags
Green Green List (high evidence)	BSCL2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Silver spastic paraplegia syndrome MIM#270685 Neuropathy, distal hereditary motor, type VA MIM#600794 Tags
Green Green List (high evidence)	CHCHD10	3 reviews 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Royal Melbourne Hospital Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CHMP2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795, MONDO:0010936) Tags
Green Green List (high evidence)	DCTN1	2 reviews 2 green	Unknown	Sources Expert Review Amber Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Royal Melbourne Hospital Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	DNAJB2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881) Tags
Green Green List (high evidence)	FTDALS STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags
Green Green List (high evidence)	FUS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (MIM#608030) Tags
Green Green List (high evidence)	GBE1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyglucosan body disease, adult form MIM#263570 Tags
Green Green List (high evidence)	GRN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923 Tags
Green Green List (high evidence)	HEXA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes GM2-gangliosidosis, several forms or Tay-Sachs disease MIM#272800 Tags
Green Green List (high evidence)	HEXB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms MIM#268800 Tags
Green Green List (high evidence)	HNRNPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 20 MIM#615426 Tags
Green Green List (high evidence)	KIF5A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes {Amyotrophic lateral sclerosis, susceptibility to, 25} MIM#617921 Tags
Green Green List (high evidence)	LRP12-ALS_CGG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Amyotrophic lateral sclerosis MONDO:0004976 Amyotrophic lateral sclerosis 28, MIM# 620452 Tags
Green Green List (high evidence)	MATR3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Royal Melbourne Hospital Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NEK1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892 Tags
Green Green List (high evidence)	OPTN	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435) Tags
Green Green List (high evidence)	PFN1	3 reviews 2 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	REEP1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 31, autosomal dominant MIM#610250 Tags
Green Green List (high evidence)	SBMA STR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Spinal and bulbar muscular atrophy of Kennedy MIM#313200 Tags STR
Green Green List (high evidence)	SCA2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 2 MIM#183090 Tags
Green Green List (high evidence)	SETX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433) Tags
Green Green List (high evidence)	SIGMAR1	3 reviews 2 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SLC52A2	2 reviews 2 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SLC52A3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amytrophic Lateral Sclerosis (ALS) Brown-Vialetto-van Laere syndrome 1 (MIM# 211530) Tags
Green Green List (high evidence)	SMN1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy-1, MIM# 253300 Tags
Green Green List (high evidence)	SOD1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 1 (105400 AD, AR) Spastic tetraplegia and axial hypotonia, progressive (618598 AR) Tags treatable
Green Green List (high evidence)	SPART	1 review 1 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SPAST	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Tags
Green Green List (high evidence)	SPG11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 5, juvenile, MIM# 602099 Tags
Green Green List (high evidence)	SPG7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 7, autosomal recessive MIM#607259 Tags
Green Green List (high evidence)	SPTLC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes juvenile amyotrophic lateral sclerosis MONDO:0017593 Tags
Green Green List (high evidence)	TARDBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 10, with or without FTD Frontotemporal lobar degeneration, TARDBP-related (MIM#612069 MONDO: 0012790) Tags
Green Green List (high evidence)	TBK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 4 (MIM#616439 MONDO:0011223) Tags
Green Green List (high evidence)	TUBA4A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208 Tags
Green Green List (high evidence)	UBQLN2	1 review 1 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 Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis type 15 (MONDO:0010459 MIM#300857) Tags
Green Green List (high evidence)	VAPB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980) Amyotrophic lateral sclerosis 8 Tags founder
Green Green List (high evidence)	VCP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ALS) (MIM#613954) Tags
Amber Amber List (moderate evidence)	ANG	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753 MIM#611895) Tags
Amber Amber List (moderate evidence)	CCNF	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141 Tags
Amber Amber List (moderate evidence)	CYLD	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132 Tags
Amber Amber List (moderate evidence)	DNAJC7	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes amyotrophic lateral sclerosis Tags
Amber Amber List (moderate evidence)	ERBB4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 19 MIM#615515 Tags
Amber Amber List (moderate evidence)	FIG4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945 MIM#612577) Tags
Amber Amber List (moderate evidence)	GLT8D1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Amyotrophic lateral sclerosis Tags
Amber Amber List (moderate evidence)	HNRNPA2B1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Phenotypes amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber Amber List (moderate evidence)	LGALSL	1 review	Unknown	Sources ClinGen Expert Review Amber Phenotypes amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber Amber List (moderate evidence)	PRPH	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Tags
Amber Amber List (moderate evidence)	RNF13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Literature Phenotypes Amyotrophic lateral sclerosis Tags
Amber Amber List (moderate evidence)	SQSTM1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0014640 Tags
Amber Amber List (moderate evidence)	SS18L1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes amyotrophic lateral sclerosis (MONDO:0004976) Tags
Amber Amber List (moderate evidence)	TAF15	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Amyotrophic lateral sclerosis Tags
Amber Amber List (moderate evidence)	TIA1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133 Tags
Amber Amber List (moderate evidence)	UBQLN4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Amyotrophic lateral sclerosis Tags
Amber Amber List (moderate evidence)	VRK1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia Distal hereditary motor neuropathy dHMN/dSMA Tags
Red Red List (low evidence)	AIFM1	2 reviews 1 green 1 red	Unknown	Sources Expert list Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ARPP21	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Phenotypes amyotrophic lateral sclerosis MONDO:0004976 Tags
Red Red List (low evidence)	ASAH1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 Tags
Red Red List (low evidence)	ATP7A	3 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, distal, X-linked 3, 300489 Tags
Red Red List (low evidence)	BICD2	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 Tags
Red Red List (low evidence)	DAO	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Amyotrophic Lateral Sclerosis Tags
Red Red List (low evidence)	DYNC1H1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600 Tags
Red Red List (low evidence)	ERLIN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Amyotrophic lateral sclerosis Tags
Red Red List (low evidence)	EWSR1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Amyotrophic lateral sclerosis Tags
Red Red List (low evidence)	EXOSC8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1C, MIM# 616081 Tags
Red Red List (low evidence)	GNE	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis Tags
Red Red List (low evidence)	IGHMBP2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neuronopathy, distal hereditary motor, type VI 604320 Tags
Red Red List (low evidence)	LAS1L	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes congenital lethal motor neuron disease Tags
Red Red List (low evidence)	NEFH	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes amyotrophic lateral sclerosis MONDO:0004976 Tags
Red Red List (low evidence)	PLEKHG5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 Tags
Red Red List (low evidence)	SLC52A1	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Riboflavin deficiency, MIM#615026 Tags
Red Red List (low evidence)	TRIP4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 Tags
Red Red List (low evidence)	TRPV4	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, distal, congenital nonprogressive, 600175 Tags
Red Red List (low evidence)	UBA1	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830 Tags

Major version comments

2023-08-21 06:49 Bryony Thompson (Royal Melbourne Hospital) promoted panel to 1.0
All genes reviewed on the panel

Motor Neurone Disease (Version 1.27)

19 reviewers

78 Entities

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