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Hereditary Neuropathy v1.186 PRPH Lucy Spencer Mode of inheritance for gene: PRPH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v1.185 PRPH Lucy Spencer Phenotypes for gene: PRPH were changed from {Amyotrophic lateral sclerosis, susceptibility to} MIM#105400; Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related to Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related
Hereditary Neuropathy v1.184 Lucy Spencer Copied gene PRPH from panel Mendeliome
Hereditary Neuropathy v1.184 PRPH Lucy Spencer gene: PRPH was added
gene: PRPH was added to Hereditary Neuropathy. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRPH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PRPH were set to 20363051; 15322088; 15446584; 30992453; 32638105
Phenotypes for gene: PRPH were set to {Amyotrophic lateral sclerosis, susceptibility to} MIM#105400; Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related
Hereditary Neuropathy v1.183 TDP1 Zornitza Stark Publications for gene: TDP1 were set to 31182267; 12244316
Hereditary Neuropathy v1.182 TDP1 Zornitza Stark commented on gene: TDP1: Additional family reported in PMID 39576382 with different homozygous missense, c.1432C>T (p.His478Tyr). The affected individual had severe hypotonia, ataxia, distal axonal neuropathy, seizures at 9‑10 months, kyphoscoliosis, hearing/vision loss and moderate cognitive impairment. No other supportive data.
Hereditary Neuropathy v1.182 TDP1 Zornitza Stark edited their review of gene: TDP1: Changed publications: 31182267, 12244316, 39576382
Hereditary Neuropathy v1.182 PMP22 Zornitza Stark Marked gene: PMP22 as ready
Hereditary Neuropathy v1.182 PMP22 Zornitza Stark Gene: pmp22 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.182 PMP22 Zornitza Stark Phenotypes for gene: PMP22 were changed from Charcot Marie Tooth disease, type 1A, 118220; Roussy Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1E, 118300; Dejerine Sottas disease, 145900; HMSN to Charcot-Marie-Tooth disease, type 1A, MIM# 118220; Charcot-Marie-Tooth disease, type 1E, MIM# 118300; Dejerine-Sottas disease, MIM# 145900; Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800
Hereditary Neuropathy v1.181 PMP22 Zornitza Stark Publications for gene: PMP22 were set to
Hereditary Neuropathy v1.180 PMP22 Zornitza Stark Mode of inheritance for gene: PMP22 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v1.179 PMP22 Zornitza Stark edited their review of gene: PMP22: Added comment: Addition of studies to support GREEN AR GDA with PMP22. The reported affected individuals present with infantile/early-onset CMT/ Dejerine‑Sottas disease (which is now known as CMT type 3).

AD GDA (GREEN)
Classified as Definitive ClinGen CMT GCEP in association with Charcot-Marie-Tooth disease type 1A - https://search.clinicalgenome.org/CCID:005837

Classified as Definitive by ClinGen CMT GCEp in association with hereditary neuropathy with liability to pressure palsies - https://search.clinicalgenome.org/CCID:008314; Changed publications: 32412171, 31777123, 32719652; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v1.178 Bryony Thompson Copied gene YARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.178 YARS Bryony Thompson gene: YARS was added
gene: YARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: YARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YARS were set to 16429158; 24354524; 31587308; 26725087
Phenotypes for gene: YARS were set to Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323; MONDO:0012012
Hereditary Neuropathy v1.177 Bryony Thompson Copied gene WNK1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.177 WNK1 Bryony Thompson gene: WNK1 was added
gene: WNK1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNK1 were set to 15060842; 15911806; 15455397; 16534117
Phenotypes for gene: WNK1 were set to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300; MONDO:0024309
Hereditary Neuropathy v1.176 Bryony Thompson Copied gene VWA1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.176 VWA1 Bryony Thompson gene: VWA1 was added
gene: VWA1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VWA1 were set to 33459760; 33693694; 33559681
Phenotypes for gene: VWA1 were set to Hereditary motor neuropathy
Hereditary Neuropathy v1.175 Bryony Thompson Copied gene VRK1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.175 VRK1 Bryony Thompson gene: VRK1 was added
gene: VRK1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VRK1 were set to 31560180; 32242460; 31178479; 31837156; 30847374
Phenotypes for gene: VRK1 were set to Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Hereditary Neuropathy v1.174 Bryony Thompson Copied gene VCP from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.174 VCP Bryony Thompson gene: VCP was added
gene: VCP was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCP were set to 25125609; 25878907; 32165109
Phenotypes for gene: VCP were set to Charcot-Marie-Tooth disease, type 2Y, MIM# 616687
Mode of pathogenicity for gene: VCP was set to Other
Hereditary Neuropathy v1.173 Bryony Thompson Copied gene VAPB from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.173 VAPB Bryony Thompson gene: VAPB was added
gene: VAPB was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VAPB were set to 15372378; 32162544; 28993872; 28173107; 26566915
Phenotypes for gene: VAPB were set to Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA; Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980
Hereditary Neuropathy v1.172 Bryony Thompson Copied gene UBA1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.172 UBA1 Bryony Thompson gene: UBA1 was added
gene: UBA1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: UBA1 were set to 18179898; 32181232; 31932168; 29034082; 27699224; 26028276; 23518311
Phenotypes for gene: UBA1 were set to dHMN/dSMA; Spinal muscular atrophy, X-linked 2, MIM# 301830
Hereditary Neuropathy v1.171 Bryony Thompson Copied gene TRPV4 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.171 TRPV4 Bryony Thompson gene: TRPV4 was added
gene: TRPV4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPV4 were set to HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175
Hereditary Neuropathy v1.171 Bryony Thompson Copied gene TRIM2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.171 TRIM2 Bryony Thompson gene: TRIM2 was added
gene: TRIM2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TRIM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM2 were set to 23562820; 25893792; 18687884; 32815244; 32205255; 25893792
Phenotypes for gene: TRIM2 were set to Charcot-Marie-Tooth disease, type 2R, MIM# 615490; MONDO:0014208; HMSN
Hereditary Neuropathy v1.170 Bryony Thompson Added reviews for gene TFG from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.169 Bryony Thompson Copied gene TFG from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.169 TFG Bryony Thompson gene: TFG was added
gene: TFG was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TFG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TFG were set to 25098539; 23553329; 22883144; 31449671; 31111683
Phenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484
Hereditary Neuropathy v1.168 Bryony Thompson Copied gene SYT2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.168 SYT2 Bryony Thompson gene: SYT2 was added
gene: SYT2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SYT2 were set to 25192047; 30533528; 26519543
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic; HMSN
Hereditary Neuropathy v1.167 Bryony Thompson Copied gene SPTLC2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.167 SPTLC2 Bryony Thompson gene: SPTLC2 was added
gene: SPTLC2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC2 were set to 20920666; 23658386; 31509666; 30866134
Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC, 613640; MONDO:0013337; HSAN/SFN
Hereditary Neuropathy v1.167 Bryony Thompson Copied gene SPTLC1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.167 SPTLC1 Bryony Thompson gene: SPTLC1 was added
gene: SPTLC1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC1 were set to 11242114; 11242106; 15037712; 26681808
Phenotypes for gene: SPTLC1 were set to Juvenile amyotrophic lateral sclerosis-27, MIM#620285; HSAN/SFN; Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IA, 162400
Hereditary Neuropathy v1.166 Bryony Thompson Copied gene SPTAN1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.166 SPTAN1 Bryony Thompson gene: SPTAN1 was added
gene: SPTAN1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTAN1 were set to 33578420; 31332438
Phenotypes for gene: SPTAN1 were set to Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528
Penetrance for gene: SPTAN1 were set to Incomplete
Hereditary Neuropathy v1.165 Bryony Thompson Copied gene SPG11 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.165 SPG11 Bryony Thompson gene: SPG11 was added
gene: SPG11 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 26556829; 33581793
Phenotypes for gene: SPG11 were set to HMSN; Hereditary Neuropathies; axonal Charcot-Marie-Tooth disease type 2X; MONDO:0014726
Hereditary Neuropathy v1.165 Bryony Thompson Copied gene SORD from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.165 SORD Bryony Thompson gene: SORD was added
gene: SORD was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SORD were set to 32367058
Phenotypes for gene: SORD were set to isolated hereditary neuropathy; Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912
Hereditary Neuropathy v1.164 Bryony Thompson Copied gene SMN1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.164 SMN1 Bryony Thompson gene: SMN1 was added
gene: SMN1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
SV/CNV tags were added to gene: SMN1.
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, MIM# 253300; Spinal muscular atrophy-2, MIM# 253550; Spinal muscular atrophy-3, MIM# 253400; Spinal muscular atrophy-4, MIM# 271150
Hereditary Neuropathy v1.163 Bryony Thompson Copied gene SLC5A7 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.163 SLC5A7 Bryony Thompson gene: SLC5A7 was added
gene: SLC5A7 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC5A7 were set to 23141292; 15173594; 29782645; 29582019
Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024
Hereditary Neuropathy v1.162 Bryony Thompson Copied gene SIGMAR1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.162 SIGMAR1 Bryony Thompson gene: SIGMAR1 was added
gene: SIGMAR1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIGMAR1 were set to 31511340
Phenotypes for gene: SIGMAR1 were set to ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA; Distal hereditary motor neuropathy of Jerash type (HMNJ)
Hereditary Neuropathy v1.161 Bryony Thompson Copied gene SH3TC2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.161 SH3TC2 Bryony Thompson gene: SH3TC2 was added
gene: SH3TC2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SH3TC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SH3TC2 were set to 19744956; 20220177; 19744956; 20028792
Phenotypes for gene: SH3TC2 were set to HMSN; Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353
Hereditary Neuropathy v1.160 Bryony Thompson Copied gene SEPT9 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.160 SEPT9 Bryony Thompson gene: SEPT9 was added
gene: SEPT9 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
SV/CNV, 5'UTR, founder, new gene name tags were added to gene: SEPT9.
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEPT9 were set to 16186812; 19451530; 19939853; 19139049
Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, MIM# 162100; HMSN
Hereditary Neuropathy v1.159 Bryony Thompson Copied gene SCO2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.159 SCO2 Bryony Thompson gene: SCO2 was added
gene: SCO2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO2 were set to 29351582; 31844624; 35112411
Phenotypes for gene: SCO2 were set to autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850
Hereditary Neuropathy v1.158 Bryony Thompson Copied gene SCN9A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.158 SCN9A Bryony Thompson gene: SCN9A was added
gene: SCN9A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Erythermalgia, primary, MIM# 133020; Insensitivity to pain, congenital, MIM# 243000; Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000; Paroxysmal extreme pain disorder, MIM# 167400; Small fiber neuropathy,MIM# 133020
Hereditary Neuropathy v1.157 Bryony Thompson Copied gene SCN11A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.157 SCN11A Bryony Thompson gene: SCN11A was added
gene: SCN11A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN11A were set to 24036948; 25118027; 30395542; 33884296; 32831372; 30046661
Phenotypes for gene: SCN11A were set to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; MONDO:0014244
Hereditary Neuropathy v1.156 Bryony Thompson Copied gene SCN10A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.156 SCN10A Bryony Thompson gene: SCN10A was added
gene: SCN10A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN10A were set to 23115331; 33775738; 30731422; 30554136
Phenotypes for gene: SCN10A were set to HSAN/SFN; Episodic pain syndrome, familial, 2, 615551
Hereditary Neuropathy v1.155 Bryony Thompson Copied gene SBF2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.155 SBF2 Bryony Thompson gene: SBF2 was added
gene: SBF2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SBF2 were set to 12554688; 15477569; 12687498; 15304601; 31772832; 31070812
Phenotypes for gene: SBF2 were set to HMSN; Charcot Marie Tooth disease, type 4B2, MIM#604563
Hereditary Neuropathy v1.154 Bryony Thompson Copied gene SARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.154 SARS Bryony Thompson gene: SARS was added
gene: SARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature,Expert Review Green,Literature
Mode of inheritance for gene: SARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SARS were set to 36088542
Phenotypes for gene: SARS were set to Genetic peripheral neuropathy MONDO#0020127, SARS1-related
Hereditary Neuropathy v1.153 Bryony Thompson Copied gene RTN2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.153 RTN2 Bryony Thompson gene: RTN2 was added
gene: RTN2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RTN2 were set to 38527963
Phenotypes for gene: RTN2 were set to Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854
Hereditary Neuropathy v1.152 Bryony Thompson Copied gene RETREG1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.152 RETREG1 Bryony Thompson gene: RETREG1 was added
gene: RETREG1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RETREG1 were set to 19838196; 24327336; 31737055; 31596031
Phenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN/SFN
Hereditary Neuropathy v1.151 Bryony Thompson Copied gene REEP1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.151 REEP1 Bryony Thompson gene: REEP1 was added
gene: REEP1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: REEP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: REEP1 were set to 27066569; 31872057; 22703882; 29124833
Phenotypes for gene: REEP1 were set to Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250
Mode of pathogenicity for gene: REEP1 was set to Other
Hereditary Neuropathy v1.150 Bryony Thompson Copied gene RCC1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.150 RCC1 Bryony Thompson gene: RCC1 was added
gene: RCC1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RCC1 were set to 40683276
Phenotypes for gene: RCC1 were set to Infection-induced acute-onset axonal neuropathy, MIM# 621333
Hereditary Neuropathy v1.149 Bryony Thompson Copied gene RAB7A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.149 RAB7A Bryony Thompson gene: RAB7A was added
gene: RAB7A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB7A were set to 12545426; 17060578; 32326241; 29130394; 25614874
Phenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease, type 2B, MIM# 600882; MONDO:0010949
Hereditary Neuropathy v1.148 Bryony Thompson Copied gene PRX from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.148 PRX Bryony Thompson gene: PRX was added
gene: PRX was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRX were set to 11133365; 11157804; 15197604; 21079185; 22847150; 10839370; 32460404; 31523542; 31426691
Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease type 4 MONDO:0018995
Hereditary Neuropathy v1.147 Bryony Thompson Copied gene PRPS1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.147 PRPS1 Bryony Thompson gene: PRPS1 was added
gene: PRPS1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PRPS1 were set to 17701900; 24285972; 25491489; 25182139
Phenotypes for gene: PRPS1 were set to Charcot Marie Tooth disease, X linked recessive, 5, 311070; HMSN
Hereditary Neuropathy v1.146 Bryony Thompson Copied gene PRDM12 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.146 PRDM12 Bryony Thompson gene: PRDM12 was added
gene: PRDM12 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM12 were set to 26005867; 33789102; 33010785; 32828702
Phenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662; HSAN/SFN
Hereditary Neuropathy v1.145 Bryony Thompson Copied gene PMP22 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.145 PMP22 Bryony Thompson gene: PMP22 was added
gene: PMP22 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
SV/CNV tags were added to gene: PMP22.
Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PMP22 were set to Charcot Marie Tooth disease, type 1A, 118220; Roussy Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1E, 118300; Dejerine Sottas disease, 145900; HMSN
Hereditary Neuropathy v1.144 Bryony Thompson Copied gene PLEKHG5 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.144 PLEKHG5 Bryony Thompson gene: PLEKHG5 was added
gene: PLEKHG5 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHG5 were set to 17564964; 23777631; 23844677; 33492783; 33275839; 33220101; 23777631
Phenotypes for gene: PLEKHG5 were set to hereditary peripheral neuropathy MONDO:0020127, PLEKHG5-related
Hereditary Neuropathy v1.143 Bryony Thompson Copied gene PDK3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.143 PDK3 Bryony Thompson gene: PDK3 was added
gene: PDK3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PDK3 were set to 23297365; 26801680; 27388934; 28902413
Phenotypes for gene: PDK3 were set to Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905; HMSN
Hereditary Neuropathy v1.142 Bryony Thompson Copied gene NGF from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.142 NGF Bryony Thompson gene: NGF was added
gene: NGF was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NGF were set to 14976160; 20978020; 33884296; 32693191; 31685654; 30296891
Phenotypes for gene: NGF were set to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; MONDO:0012092
Hereditary Neuropathy v1.141 Bryony Thompson Copied gene NEFL from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.141 NEFL Bryony Thompson gene: NEFL was added
gene: NEFL was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NEFL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NEFL were set to 10841809; 12393795; 14733962; 24887401; 25877835; 20039262; 12566280; 29191368; 28902413
Phenotypes for gene: NEFL were set to Charcot Marie Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, dominant intermediate G, 617882; HMSN; Charcot Marie Tooth disease, type 1F, 607734
Hereditary Neuropathy v1.140 Bryony Thompson Copied gene NEFH from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.140 NEFH Bryony Thompson gene: NEFH was added
gene: NEFH was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NEFH were set to 30992180; 27040688; 28709447
Phenotypes for gene: NEFH were set to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924; HMSN
Hereditary Neuropathy v1.139 Bryony Thompson Copied gene NDRG1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.139 NDRG1 Bryony Thompson gene: NDRG1 was added
gene: NDRG1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
founder tags were added to gene: NDRG1.
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDRG1 were set to 10831399; 24136616; 33334662; 29724652; 29174527; 28776325
Phenotypes for gene: NDRG1 were set to HMSN; Charcot Marie Tooth disease, type 4D, 601455; MONDO:0011085
Hereditary Neuropathy v1.138 Bryony Thompson Copied gene MTMR2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.138 MTMR2 Bryony Thompson gene: MTMR2 was added
gene: MTMR2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTMR2 were set to 10802647; 16249189; 33653949; 32586600; 32488727; 31680794
Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382; HMSN; MONDO:0011066
Hereditary Neuropathy v1.137 Bryony Thompson Copied gene MPZ from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.137 MPZ Bryony Thompson gene: MPZ was added
gene: MPZ was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MPZ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MPZ were set to 19293842
Phenotypes for gene: MPZ were set to Charcot Marie Tooth disease, dominant intermediate D, 60779; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677; HMSN
Hereditary Neuropathy v1.136 Bryony Thompson Copied gene MPV17 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.136 MPV17 Bryony Thompson gene: MPV17 was added
gene: MPV17 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPV17 were set to 22508010; 26437932; 30298599
Phenotypes for gene: MPV17 were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Hereditary Neuropathy v1.135 Bryony Thompson Copied gene MME from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.135 MME Bryony Thompson gene: MME was added
gene: MME was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital,Royal Melbourne Hospital,GeneReviews
Mode of inheritance for gene: MME was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MME were set to 26991897; 27588448; 33144514; 31429185
Phenotypes for gene: MME were set to Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017; MONDO:0014866
Hereditary Neuropathy v1.134 Bryony Thompson Copied gene MFN2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.134 MFN2 Bryony Thompson gene: MFN2 was added
gene: MFN2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to 15064763; 15549395; 16437557; 20008656
Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2A 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Hereditary motor and sensory neuropathy VIA, MIM# 601152
Hereditary Neuropathy v1.133 Bryony Thompson Copied gene LRSAM1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.133 LRSAM1 Bryony Thompson gene: LRSAM1 was added
gene: LRSAM1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LRSAM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LRSAM1 were set to 20865121; 22012984; 22781092; 27686364; 33568173; 33414056; 30996334
Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; MONDO:0013753; HMSN
Hereditary Neuropathy v1.132 Bryony Thompson Copied gene WARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.132 WARS Bryony Thompson gene: WARS was added
gene: WARS was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature,Royal Melbourne Hospital
Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WARS were set to 28369220; 31321409; 31069783
Phenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX, MIM#617721
Hereditary Neuropathy v1.131 Bryony Thompson Copied gene UBA5 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.131 UBA5 Bryony Thompson gene: UBA5 was added
gene: UBA5 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBA5 were set to 32179706; 26872069
Phenotypes for gene: UBA5 were set to Hypomyelinating neuropathy
Hereditary Neuropathy v1.130 RBM7 Bryony Thompson edited their review of gene: RBM7: Changed rating: RED
Hereditary Neuropathy v1.130 RBM7 Bryony Thompson Classified gene: RBM7 as Red List (low evidence)
Hereditary Neuropathy v1.130 RBM7 Bryony Thompson Gene: rbm7 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v1.129 Bryony Thompson Copied gene RBM7 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.129 RBM7 Bryony Thompson gene: RBM7 was added
gene: RBM7 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: RBM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM7 were set to 27193168
Phenotypes for gene: RBM7 were set to SMA-like spinal motor neuropathy; dHMN/dSMA
Hereditary Neuropathy v1.128 PMP2 Bryony Thompson Classified gene: PMP2 as Green List (high evidence)
Hereditary Neuropathy v1.128 PMP2 Bryony Thompson Gene: pmp2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.127 Bryony Thompson Copied gene PMP2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.127 PMP2 Bryony Thompson gene: PMP2 was added
gene: PMP2 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: PMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMP2 were set to 26257172; 26828946; 27009151
Phenotypes for gene: PMP2 were set to HMSN; Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
Mode of pathogenicity for gene: PMP2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary Neuropathy v1.126 Bryony Thompson Copied gene PCK2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.126 PCK2 Bryony Thompson gene: PCK2 was added
gene: PCK2 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PCK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCK2 were set to 36845668
Phenotypes for gene: PCK2 were set to Peripheral neuropathy (MONDO#0005244), PCK2-related
Hereditary Neuropathy v1.125 Bryony Thompson Copied gene NAGLU from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.125 NAGLU Bryony Thompson gene: NAGLU was added
gene: NAGLU was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Amber,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: NAGLU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NAGLU were set to ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; HSAN/SFN
Hereditary Neuropathy v1.124 Bryony Thompson Copied gene MYO9B from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.124 MYO9B Bryony Thompson gene: MYO9B was added
gene: MYO9B was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MYO9B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO9B were set to PMID: 36260368; 40382695
Phenotypes for gene: MYO9B were set to Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related
Hereditary Neuropathy v1.123 Bryony Thompson Copied gene LMNA from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.123 LMNA Bryony Thompson gene: LMNA was added
gene: LMNA was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMNA were set to 11799477; 28902413
Phenotypes for gene: LMNA were set to Charcot-Marie-Tooth disease, type 2B1 , MIM#605588
Hereditary Neuropathy v1.122 Bryony Thompson Copied gene LITAF from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.122 LITAF Bryony Thompson gene: LITAF was added
gene: LITAF was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LITAF were set to 12525712; 19541485; 23359569; 32665875; 28211240
Phenotypes for gene: LITAF were set to Charcot-Marie-Tooth disease, type 1C, MIM# 601098; MONDO:0010995
Hereditary Neuropathy v1.121 Bryony Thompson Copied Region ISCA-37436-Loss from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.121 ISCA-37436-Loss Bryony Thompson Region: ISCA-37436-Loss was added
Region: ISCA-37436-Loss was added to Hereditary Neuropathy. Sources: Expert list,Expert Review Green,Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37436-Loss.
Mode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Loss were set to PMID: 32356557; 31118906; 24726093
Phenotypes for Region: ISCA-37436-Loss were set to Neuropathy, recurrent, with pressure palsies, MIM# 162500
Hereditary Neuropathy v1.120 Bryony Thompson Copied Region ISCA-37436-Gain from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.120 ISCA-37436-Gain Bryony Thompson Region: ISCA-37436-Gain was added
Region: ISCA-37436-Gain was added to Hereditary Neuropathy. Sources: Expert list,Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Gain were set to PMID: 32648354
Phenotypes for Region: ISCA-37436-Gain were set to Charcot-Marie-Tooth disease type 1A, MIM#118220
Hereditary Neuropathy v1.119 Bryony Thompson Copied STR VWA1_HMNMYO_GCGCGGAGCG from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.119 VWA1_HMNMYO_GCGCGGAGCG Bryony Thompson STR: VWA1_HMNMYO_GCGCGGAGCG was added
STR: VWA1_HMNMYO_GCGCGGAGCG was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green,Expert Review Green,Literature
paediatric-onset tags were added to STR: VWA1_HMNMYO_GCGCGGAGCG.
Mode of inheritance for STR: VWA1_HMNMYO_GCGCGGAGCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: VWA1_HMNMYO_GCGCGGAGCG were set to 33559681; 33459760
Phenotypes for STR: VWA1_HMNMYO_GCGCGGAGCG were set to Neuropathy, hereditary motor, with myopathic features MIM#619216
Hereditary Neuropathy v1.118 Bryony Thompson Copied STR PRDM12_HSAN8_GCC from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.118 PRDM12_HSAN8_GCC Bryony Thompson STR: PRDM12_HSAN8_GCC was added
STR: PRDM12_HSAN8_GCC was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green,Expert Review Green,Literature
paediatric-onset tags were added to STR: PRDM12_HSAN8_GCC.
Mode of inheritance for STR: PRDM12_HSAN8_GCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: PRDM12_HSAN8_GCC were set to 26005867
Phenotypes for STR: PRDM12_HSAN8_GCC were set to Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488
Hereditary Neuropathy v1.117 Bryony Thompson Copied gene TRPA1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.117 TRPA1 Bryony Thompson gene: TRPA1 was added
gene: TRPA1 was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPA1 were set to 20547126
Phenotypes for gene: TRPA1 were set to Episodic pain syndrome, familial, 1; HSAN/SFN
Hereditary Neuropathy v1.116 Bryony Thompson Copied gene SH3BP4 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.116 SH3BP4 Bryony Thompson gene: SH3BP4 was added
gene: SH3BP4 was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: SH3BP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SH3BP4 were set to 24627108
Phenotypes for gene: SH3BP4 were set to HMSN
Hereditary Neuropathy v1.115 Bryony Thompson Copied gene NRG1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.115 NRG1 Bryony Thompson gene: NRG1 was added
gene: NRG1 was added to Hereditary Neuropathy. Sources: Expert Review Red,Expert Review,Expert list
Mode of inheritance for gene: NRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRG1 were set to 35485770
Phenotypes for gene: NRG1 were set to Peripheral neuropathy MONDO:0005244
Hereditary Neuropathy v1.114 Bryony Thompson Copied gene NAMPT from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.114 NAMPT Bryony Thompson gene: NAMPT was added
gene: NAMPT was added to Hereditary Neuropathy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NAMPT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAMPT were set to 41004591
Phenotypes for gene: NAMPT were set to hereditary motor and sensory neuropathy MONDO:0015358
Hereditary Neuropathy v1.114 Bryony Thompson Copied gene MED25 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.114 MED25 Bryony Thompson gene: MED25 was added
gene: MED25 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Red,Expert list,Victorian Clinical Genetics Services
disputed tags were added to gene: MED25.
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 19290556; 30039206
Phenotypes for gene: MED25 were set to Charcot-Marie-Tooth disease, type 2B2 MIM#605589
Hereditary Neuropathy v1.113 Bryony Thompson Copied gene MARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.113 MARS Bryony Thompson gene: MARS was added
gene: MARS was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARS were set to 23729695; 24354524; 29655802
Phenotypes for gene: MARS were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Hereditary Neuropathy v1.112 Bryony Thompson Copied gene LAS1L from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.112 LAS1L Bryony Thompson gene: LAS1L was added
gene: LAS1L was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Red,Expert Review
Mode of inheritance for gene: LAS1L was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: LAS1L were set to 24647030
Phenotypes for gene: LAS1L were set to congenital lethal motor neuron disease
Hereditary Neuropathy v1.111 Bryony Thompson Copied gene KLHL13 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.111 KLHL13 Bryony Thompson gene: KLHL13 was added
gene: KLHL13 was added to Hereditary Neuropathy. Sources: Expert Review Red,Expert Review,Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KLHL13 were set to 24627108
Phenotypes for gene: KLHL13 were set to HMSN
Hereditary Neuropathy v1.110 Bryony Thompson Copied gene KIF5A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.110 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5A were set to 30057544; 29892902; 28902413; 26403765; 25695920; 25008398
Phenotypes for gene: KIF5A were set to Hereditary Neuropathies; HMSN
Hereditary Neuropathy v1.109 Bryony Thompson Copied gene KIF1B from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.109 KIF1B Bryony Thompson gene: KIF1B was added
gene: KIF1B was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF1B were set to 11389829; 30126838; 25802885
Phenotypes for gene: KIF1B were set to Charcot Marie Tooth disease, type 2A1, 118210; HMSN
Hereditary Neuropathy v1.108 Bryony Thompson Copied gene IQGAP3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.108 IQGAP3 Bryony Thompson gene: IQGAP3 was added
gene: IQGAP3 was added to Hereditary Neuropathy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: IQGAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IQGAP3 were set to 32341455
Phenotypes for gene: IQGAP3 were set to Hereditary neuropathy
Hereditary Neuropathy v1.107 Bryony Thompson Copied gene KIF1A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.107 KIF1A Bryony Thompson gene: KIF1A was added
gene: KIF1A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to 21820098; 28708278
Phenotypes for gene: KIF1A were set to HSAN/SFN; Neuropathy, hereditary sensory, type IIC, 614213
Hereditary Neuropathy v1.106 Bryony Thompson Copied gene JAG1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.106 JAG1 Bryony Thompson gene: JAG1 was added
gene: JAG1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 32065591; 25707699
Phenotypes for gene: JAG1 were set to Peripheral neuropathy
Hereditary Neuropathy v1.105 Bryony Thompson Copied gene ITPR3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.105 ITPR3 Bryony Thompson gene: ITPR3 was added
gene: ITPR3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ITPR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITPR3 were set to 32949214; 24627108; 36302985; 39270020; 39560673
Phenotypes for gene: ITPR3 were set to Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111; Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254
Mode of pathogenicity for gene: ITPR3 was set to Other
Hereditary Neuropathy v1.104 Bryony Thompson Copied gene INF2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.104 INF2 Bryony Thompson gene: INF2 was added
gene: INF2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: INF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: INF2 were set to 22187985; 30680856; 25943269
Phenotypes for gene: INF2 were set to Charcot Marie Tooth disease, dominant intermediate E, 614455; HMSN
Hereditary Neuropathy v1.103 Bryony Thompson Copied gene IGHMBP2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.103 IGHMBP2 Bryony Thompson gene: IGHMBP2 was added
gene: IGHMBP2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGHMBP2 were set to 25439726
Phenotypes for gene: IGHMBP2 were set to HMSN, dHMN/dSMA; Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320
Hereditary Neuropathy v1.102 Bryony Thompson Copied gene HSPB8 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.102 HSPB8 Bryony Thompson gene: HSPB8 was added
gene: HSPB8 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPB8 were set to 15122253; 15565283; 29029362; 28780615; 28144995; 26718575
Phenotypes for gene: HSPB8 were set to HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIA, 158590; Charcot Marie Tooth disease, axonal, type 2L, 608673
Hereditary Neuropathy v1.101 Bryony Thompson Copied gene HSPB3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.101 HSPB3 Bryony Thompson gene: HSPB3 was added
gene: HSPB3 was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPB3 were set to 20142617; 27549087
Phenotypes for gene: HSPB3 were set to HMSN, dHMN/dSMA; ?Neuronopathy, distal hereditary motor, type IIC, 613376
Hereditary Neuropathy v1.100 Bryony Thompson Copied gene HSPB1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.100 HSPB1 Bryony Thompson gene: HSPB1 was added
gene: HSPB1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HSPB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HSPB1 were set to 21785432; 15122254; 18832141; 32639100; 32334137; 33943041; 35328016
Phenotypes for gene: HSPB1 were set to Charcot-Marie-Tooth disease axonal type 2F MONDO:0011687
Hereditary Neuropathy v1.99 Bryony Thompson Copied gene HK1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.99 HK1 Bryony Thompson gene: HK1 was added
gene: HK1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
5'UTR, founder tags were added to gene: HK1.
Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HK1 were set to 19536174; 26822750
Phenotypes for gene: HK1 were set to HMSN; Neuropathy, hereditary motor and sensory, Russe type, 605285
Hereditary Neuropathy v1.98 Bryony Thompson Copied gene HINT1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.98 HINT1 Bryony Thompson gene: HINT1 was added
gene: HINT1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HINT1 were set to 22961002; 33663550; 33404983; 31848916
Phenotypes for gene: HINT1 were set to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646; HMSN, dHMN/dSMA
Hereditary Neuropathy v1.97 Bryony Thompson Copied gene HARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.97 HARS Bryony Thompson gene: HARS was added
gene: HARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
new gene name tags were added to gene: HARS.
Mode of inheritance for gene: HARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HARS were set to 26072516
Phenotypes for gene: HARS were set to Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625; MONDO:0014711; HMSN
Hereditary Neuropathy v1.96 Bryony Thompson Copied gene GNB4 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.96 GNB4 Bryony Thompson gene: GNB4 was added
gene: GNB4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB4 were set to 23434117; 28642160; 27908631
Phenotypes for gene: GNB4 were set to Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185; MONDO:0014074; HMSN
Hereditary Neuropathy v1.95 Bryony Thompson Copied gene GJB1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.95 GJB1 Bryony Thompson gene: GJB1 was added
gene: GJB1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GJB1 were set to 8266101; 17100997; 17353473
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; MONDO:0010549; HMSN
Hereditary Neuropathy v1.94 Bryony Thompson Copied gene GDAP1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.94 GDAP1 Bryony Thompson gene: GDAP1 was added
gene: GDAP1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDAP1 were set to 16172208; 21753178; 21365284; 20232219; 11743580
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340; Charcot-Marie-Tooth disease, type 4A, MIM# 214400
Hereditary Neuropathy v1.93 Bryony Thompson Copied gene GBF1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.93 GBF1 Bryony Thompson gene: GBF1 was added
gene: GBF1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: GBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GBF1 were set to 32937143
Phenotypes for gene: GBF1 were set to Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Axonal Neuropathy
Hereditary Neuropathy v1.92 Bryony Thompson Copied gene GARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.92 GARS Bryony Thompson gene: GARS was added
gene: GARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
new gene name tags were added to gene: GARS.
Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GARS were set to 17101916; 22462675; 31985473; 32181591; 12690580; 25168514; 26503042; 29648643; 16982418
Phenotypes for gene: GARS were set to HMSN, dHMN/dSMA; Spinal muscular atrophy, infantile, James type, MIM# 619042; Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472
Hereditary Neuropathy v1.91 Bryony Thompson Copied gene FIG4 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.91 FIG4 Bryony Thompson gene: FIG4 was added
gene: FIG4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 17572665; 21705420; 24878229
Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J, MIM# 611228; MONDO:0012640; HMSN
Hereditary Neuropathy v1.90 Bryony Thompson Copied gene FICD from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.90 FICD Bryony Thompson gene: FICD was added
gene: FICD was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FICD were set to 36136088
Phenotypes for gene: FICD were set to Spastic paraplegia 92, autosomal recessive, MIM# 620911
Hereditary Neuropathy v1.89 Bryony Thompson Copied gene FGD4 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.89 FGD4 Bryony Thompson gene: FGD4 was added
gene: FGD4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGD4 were set to 17564959; 31152969; 28847448; 28543957
Phenotypes for gene: FGD4 were set to Charcot Marie Tooth disease, type 4H, 609311; MONDO:0012250; HMSN
Hereditary Neuropathy v1.88 Bryony Thompson Copied gene FBXO38 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.88 FBXO38 Bryony Thompson gene: FBXO38 was added
gene: FBXO38 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: FBXO38 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBXO38 were set to Neuronopathy, distal hereditary motor, type IID, 615575; dHMN/dSMA
Hereditary Neuropathy v1.87 Bryony Thompson Copied gene FBLN5 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.87 FBLN5 Bryony Thompson gene: FBLN5 was added
gene: FBLN5 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBLN5 were set to 32757322; 31945625; 23328402; 28332470
Phenotypes for gene: FBLN5 were set to HMSN; Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895
Hereditary Neuropathy v1.86 Bryony Thompson Copied gene ELP1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.86 ELP1 Bryony Thompson gene: ELP1 was added
gene: ELP1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELP1 were set to 11179008; 11179021; 17644305
Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900; Riley-Day syndrome MONDO:0009131; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN
Hereditary Neuropathy v1.85 Bryony Thompson Copied gene EGR2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.85 EGR2 Bryony Thompson gene: EGR2 was added
gene: EGR2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: EGR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EGR2 were set to 11523566; 31852952
Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth disease, type 1D 607678 AD; Dejerine-Sottas disease 145900 AD, AR; Hypomyelinating neuropathy, congenital, 1 605253 AD, AR
Mode of pathogenicity for gene: EGR2 was set to Other
Hereditary Neuropathy v1.84 Bryony Thompson Copied gene DYNC1H1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.84 DYNC1H1 Bryony Thompson gene: DYNC1H1 was added
gene: DYNC1H1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1H1 were set to 21820100; 32788638; 27549087
Phenotypes for gene: DYNC1H1 were set to Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228
Hereditary Neuropathy v1.83 Bryony Thompson Copied gene DST from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.83 DST Bryony Thompson gene: DST was added
gene: DST was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital,Literature
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DST were set to 22522446; 30371979; 28468842
Phenotypes for gene: DST were set to Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653; MONDO:0013839; HSAN/SFN
Hereditary Neuropathy v1.82 Bryony Thompson Copied gene DRP2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.82 DRP2 Bryony Thompson gene: DRP2 was added
gene: DRP2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DRP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DRP2 were set to 22764250; 26227883; 31217940
Phenotypes for gene: DRP2 were set to Charcot Marie Tooth, intermediate X-linked; HMSN
Hereditary Neuropathy v1.81 Bryony Thompson Copied gene DNMT1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.81 DNMT1 Bryony Thompson gene: DNMT1 was added
gene: DNMT1 was added to Hereditary Neuropathy. Sources: Literature,ClinGen,Expert Review Green
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNMT1 were set to 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424
Phenotypes for gene: DNMT1 were set to Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584
Hereditary Neuropathy v1.80 Bryony Thompson Copied gene DNM2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.80 DNM2 Bryony Thompson gene: DNM2 was added
gene: DNM2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM2 were set to 15731758; 17636067; 33459893; 31628461
Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674
Hereditary Neuropathy v1.79 Bryony Thompson Copied gene DNAJB2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.79 DNAJB2 Bryony Thompson gene: DNAJB2 was added
gene: DNAJB2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB2 were set to 22522442; 25274842; 33369814; 22522442
Phenotypes for gene: DNAJB2 were set to Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)
Hereditary Neuropathy v1.78 Bryony Thompson Copied gene DHX9 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.78 DHX9 Bryony Thompson gene: DHX9 was added
gene: DHX9 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX9 were set to 37467750
Phenotypes for gene: DHX9 were set to Charcot-Marie-Tooth disease, MONDO:0015626, DHX9-related
Hereditary Neuropathy v1.77 Bryony Thompson Copied gene DHTKD1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.77 DHTKD1 Bryony Thompson gene: DHTKD1 was added
gene: DHTKD1 was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green,Expert Review Amber,NHS GMS
Mode of inheritance for gene: DHTKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHTKD1 were set to 23141294, 29661920, 28902413
Phenotypes for gene: DHTKD1 were set to Charcot-Marie-Tooth disease axonal type 2Q MONDO:0014012
Hereditary Neuropathy v1.76 Bryony Thompson Copied gene DGAT2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.76 DGAT2 Bryony Thompson gene: DGAT2 was added
gene: DGAT2 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Expert Review Amber,Expert Review,Royal Melbourne Hospital
Mode of inheritance for gene: DGAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DGAT2 were set to 26786738
Phenotypes for gene: DGAT2 were set to Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related
Hereditary Neuropathy v1.75 Bryony Thompson Copied gene DCTN1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.75 DCTN1 Bryony Thompson gene: DCTN1 was added
gene: DCTN1 was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DCTN1 were set to 12627231; 15326253; 33443672; 32023010; 27573046
Phenotypes for gene: DCTN1 were set to Neuronopathy, distal hereditary motor, type 7B, MONDO:0011879
Hereditary Neuropathy v1.74 Bryony Thompson Copied gene COX6A1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.74 COX6A1 Bryony Thompson gene: COX6A1 was added
gene: COX6A1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX6A1 were set to 25152455; 26302975; 25152455
Phenotypes for gene: COX6A1 were set to Charcot Marie Tooth disease, recessive intermediate D, 616039; MONDO:0014467; HMSN
Hereditary Neuropathy v1.73 Bryony Thompson Copied gene COX20 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.73 COX20 Bryony Thompson gene: COX20 was added
gene: COX20 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX20 were set to PMID: 33751098
Phenotypes for gene: COX20 were set to sensory neuronopathy; sensory neuron disease; ganglionopathy
Hereditary Neuropathy v1.72 Bryony Thompson Copied gene CHCHD10 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.72 CHCHD10 Bryony Thompson gene: CHCHD10 was added
gene: CHCHD10 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
founder tags were added to gene: CHCHD10.
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD10 were set to 22535186; 27066538
Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type: 615048; CMT2; dHMN/dSMA
Hereditary Neuropathy v1.71 Bryony Thompson Copied gene CADM3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.71 CADM3 Bryony Thompson gene: CADM3 was added
gene: CADM3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CADM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CADM3 were set to 33889941; 38074074
Phenotypes for gene: CADM3 were set to Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519
Penetrance for gene: CADM3 were set to unknown
Hereditary Neuropathy v1.70 Bryony Thompson Copied gene C1orf194 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.70 C1orf194 Bryony Thompson gene: C1orf194 was added
gene: C1orf194 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature,Literature
Mode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C1orf194 were set to 31199454; 32592472
Phenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth disease, intermediate or demyelinating
Hereditary Neuropathy v1.69 Bryony Thompson Copied gene BSCL2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.69 BSCL2 Bryony Thompson gene: BSCL2 was added
gene: BSCL2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BSCL2 were set to 14981520; 15732094
Phenotypes for gene: BSCL2 were set to Neuropathy, distal hereditary motor, type VC, MIM# 619112
Hereditary Neuropathy v1.68 Bryony Thompson Copied gene BICD2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.68 BICD2 Bryony Thompson gene: BICD2 was added
gene: BICD2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICD2 were set to 23664116; 23664119; 23664120; 27751653; 28635954; 30054298; 29528393
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; dHMN/dSMA
Hereditary Neuropathy v1.67 Bryony Thompson Copied gene BANF1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.67 BANF1 Bryony Thompson gene: BANF1 was added
gene: BANF1 was added to Hereditary Neuropathy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: BANF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BANF1 were set to 36980188
Phenotypes for gene: BANF1 were set to Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related
Hereditary Neuropathy v1.66 Bryony Thompson Copied gene ATP7A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.66 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,NHS GMS,Royal Melbourne Hospital
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 20170900; 33137485; 31969342; 31558336
Phenotypes for gene: ATP7A were set to Spinal muscular atrophy, distal, X-linked 3, MIM# 300489; dHMN/dSMA
Hereditary Neuropathy v1.65 Bryony Thompson Copied gene ATP1A1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.65 ATP1A1 Bryony Thompson gene: ATP1A1 was added
gene: ATP1A1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A1 were set to 29499166
Phenotypes for gene: ATP1A1 were set to Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036; MONDO:0054833
Hereditary Neuropathy v1.64 Bryony Thompson Copied gene ATL3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.64 ATL3 Bryony Thompson gene: ATL3 was added
gene: ATL3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATL3 were set to 24459106; 30666337; 30339187; 24736309
Phenotypes for gene: ATL3 were set to Hereditary sensory neuropathy type IF; HSAN/SFN
Hereditary Neuropathy v1.63 Bryony Thompson Copied gene ATL1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.63 ATL1 Bryony Thompson gene: ATL1 was added
gene: ATL1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATL1 were set to 21194679; 24604904; 22340599
Phenotypes for gene: ATL1 were set to HSAN/SFN; Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381
Hereditary Neuropathy v1.62 Bryony Thompson Copied gene ARPC3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.62 ARPC3 Bryony Thompson gene: ARPC3 was added
gene: ARPC3 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ARPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARPC3 were set to 36928819; 26166300; 40011789
Phenotypes for gene: ARPC3 were set to Charcot-Marie-Tooth disease MONDO:0015626
Hereditary Neuropathy v1.61 Bryony Thompson Copied gene ARHGEF10 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.61 ARHGEF10 Bryony Thompson gene: ARHGEF10 was added
gene: ARHGEF10 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ARHGEF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGEF10 were set to 14508709; 21719701; 25025039; 25275565; 25091364
Phenotypes for gene: ARHGEF10 were set to ?Slowed nerve conduction velocity, AD, 608236; HMSN
Hereditary Neuropathy v1.60 Bryony Thompson Copied gene ARHGAP19 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.60 ARHGAP19 Bryony Thompson gene: ARHGAP19 was added
gene: ARHGAP19 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature,Literature
Mode of inheritance for gene: ARHGAP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGAP19 were set to 41086021
Phenotypes for gene: ARHGAP19 were set to Charcot-Marie-Tooth disease, axonal, type 2KK, MIM# 621466
Hereditary Neuropathy v1.58 Bryony Thompson Panel name changed from Hereditary Neuropathy - complex to Hereditary Neuropathy
Hereditary Neuropathy v1.57 Bryony Thompson Copied gene AARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.57 AARS Bryony Thompson gene: AARS was added
gene: AARS was added to Hereditary Neuropathy - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AARS were set to 20045102; 22009580; 22206013; 30373780; 26032230
Phenotypes for gene: AARS were set to Charcot Marie Tooth disease, axonal, type 2N, 613287; HMSN, dHMN/dSMA
Hereditary Neuropathy v1.56 COX18 Zornitza Stark Phenotypes for gene: COX18 were changed from Mitochondrial disease (MONDO:0044970), COX18-related to Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487; Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488
Hereditary Neuropathy v1.55 COX18 Zornitza Stark edited their review of gene: COX18: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487, Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488
Hereditary Neuropathy v1.55 DARS2 Zornitza Stark Phenotypes for gene: DARS2 were changed from Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings to Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485
Hereditary Neuropathy v1.54 DARS2 Zornitza Stark Publications for gene: DARS2 were set to
Hereditary Neuropathy v1.53 DARS2 Zornitza Stark reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40814755; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v1.53 SOD1 Zornitza Stark Classified gene: SOD1 as Green List (high evidence)
Hereditary Neuropathy v1.53 SOD1 Zornitza Stark Gene: sod1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.52 SOD1 Zornitza Stark gene: SOD1 was added
gene: SOD1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOD1 were set to 39932579
Phenotypes for gene: SOD1 were set to Hereditary peripheral neuropathy, MONDO:0020127, SOD1-related
Review for gene: SOD1 was set to GREEN
Added comment: Multiple individuals reported with adult-onset, length-dependent, motor-dominant axonal neuropathy
Sources: Literature
Hereditary Neuropathy v1.51 TRMT1L Zornitza Stark Marked gene: TRMT1L as ready
Hereditary Neuropathy v1.51 TRMT1L Zornitza Stark Gene: trmt1l has been classified as Red List (Low Evidence).
Hereditary Neuropathy v1.51 Zornitza Stark Copied gene TRMT1L from panel Mendeliome
Hereditary Neuropathy v1.51 TRMT1L Zornitza Stark gene: TRMT1L was added
gene: TRMT1L was added to Hereditary Neuropathy - complex. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TRMT1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1L were set to 39786990
Phenotypes for gene: TRMT1L were set to Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related
Hereditary Neuropathy v1.50 DNAJA3 Zornitza Stark Marked gene: DNAJA3 as ready
Hereditary Neuropathy v1.50 DNAJA3 Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v1.50 Zornitza Stark Copied gene DNAJA3 from panel Mendeliome
Hereditary Neuropathy v1.50 DNAJA3 Zornitza Stark gene: DNAJA3 was added
gene: DNAJA3 was added to Hereditary Neuropathy - complex. Sources: Expert Review Amber,Literature,Literature
Mode of inheritance for gene: DNAJA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJA3 were set to 34750646; 30770860; 41354729
Phenotypes for gene: DNAJA3 were set to Mitochondrial disease, MONDO:0044970, DNAJA3-related
Hereditary Neuropathy v1.49 KIF21A Zornitza Stark Marked gene: KIF21A as ready
Hereditary Neuropathy v1.49 KIF21A Zornitza Stark Gene: kif21a has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.49 KIF21A Rylee Peters Classified gene: KIF21A as Green List (high evidence)
Hereditary Neuropathy v1.49 KIF21A Rylee Peters Gene: kif21a has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.48 KIF21A Rylee Peters gene: KIF21A was added
gene: KIF21A was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF21A were set to 37921537; 39643435; 41282472; 32141982; 24715754; 36494820; 22699964
Phenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700
Review for gene: KIF21A was set to GREEN
Added comment: Autosomal dominant congenital fibrosis of extraocular muscles (CFEOM) is well established. This autosomal dominant condition is also associated with a spectrum of severity as a more complex disorder has also been reported in the literature including brain MRI anomalies, ataxia, peripheral neuropathy, contractures, facial weakness, delayed speech/motor development; intellectual disability has been reported in only 2 individuals (PMIDs: 37921537, 39643435, 41282472, 32141982, 24715754, 36494820, 22699964).
Sources: Literature
Hereditary Neuropathy v1.47 MT-TF Zornitza Stark Marked gene: MT-TF as ready
Hereditary Neuropathy v1.47 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.47 Zornitza Stark Copied gene MT-TF from panel Mitochondrial disease
Hereditary Neuropathy v1.47 MT-TF Zornitza Stark gene: MT-TF was added
gene: MT-TF was added to Hereditary Neuropathy - complex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TF.
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Publications for gene: MT-TF were set to 14659412; 9771776; 16806928; 21060018; 31463198; 32419253; 34607911; 21424749; 15184630; 20142618; 28267784; 31722346; 35472031; 9636664; 21882289; 16769874; 21914246; 31009750; 18977334
Phenotypes for gene: MT-TF were set to Mitochondrial disease (MONDO:0044970), MT-TF-related
Hereditary Neuropathy v1.46 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Hereditary Neuropathy v1.46 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.46 Zornitza Stark Copied gene MT-TG from panel Mitochondrial disease
Hereditary Neuropathy v1.46 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Hereditary Neuropathy - complex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TG.
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Publications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480
Phenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related
Hereditary Neuropathy v1.45 MT-TC Zornitza Stark Marked gene: MT-TC as ready
Hereditary Neuropathy v1.45 MT-TC Zornitza Stark Gene: mt-tc has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v1.45 Zornitza Stark Copied gene MT-TC from panel Mitochondrial disease
Hereditary Neuropathy v1.45 MT-TC Zornitza Stark gene: MT-TC was added
gene: MT-TC was added to Hereditary Neuropathy - complex. Sources: Expert Review Amber,Expert list
mtDNA tags were added to gene: MT-TC.
Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL
Publications for gene: MT-TC were set to 8829635; 9185178; 17241783; 11453453; 16955414; 32169613; 36039763; 17724295; 35252560; 34433719; 30030363
Phenotypes for gene: MT-TC were set to Mitochondrial disease (MONDO:0044970), MT-TC-related
Hereditary Neuropathy v1.44 IFRD1 Lucy Spencer Phenotypes for gene: IFRD1 were changed from autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458); HMSN to Hereditary spastic paraplegia MONDO:0019064, IFRD1-related
Hereditary Neuropathy v1.43 MT-ND4 Zornitza Stark Marked gene: MT-ND4 as ready
Hereditary Neuropathy v1.43 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.43 Zornitza Stark Copied gene MT-ND4 from panel Mitochondrial disease
Hereditary Neuropathy v1.43 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to Hereditary Neuropathy - complex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND4.
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Publications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231
Phenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related
Hereditary Neuropathy v1.42 MT-CO2 Zornitza Stark Marked gene: MT-CO2 as ready
Hereditary Neuropathy v1.42 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.42 Zornitza Stark Copied gene MT-CO2 from panel Mitochondrial disease
Hereditary Neuropathy v1.42 MT-CO2 Zornitza Stark gene: MT-CO2 was added
gene: MT-CO2 was added to Hereditary Neuropathy - complex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CO2.
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Publications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519
Phenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related
Hereditary Neuropathy v1.41 MT-ATP8 Zornitza Stark Marked gene: MT-ATP8 as ready
Hereditary Neuropathy v1.41 MT-ATP8 Zornitza Stark Gene: mt-atp8 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v1.41 Zornitza Stark Copied gene MT-ATP8 from panel Mitochondrial disease
Hereditary Neuropathy v1.41 MT-ATP8 Zornitza Stark gene: MT-ATP8 was added
gene: MT-ATP8 was added to Hereditary Neuropathy - complex. Sources: Expert Review Amber,Expert list
mtDNA tags were added to gene: MT-ATP8.
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL
Publications for gene: MT-ATP8 were set to 24153443; 20207608; 32858252; 33340416; 32858252; 19759059; 22919063
Phenotypes for gene: MT-ATP8 were set to Mitochondrial disease MONDO:0044970, MT-ATP8 related
Hereditary Neuropathy v1.40 CASP8 Zornitza Stark Marked gene: CASP8 as ready
Hereditary Neuropathy v1.40 CASP8 Zornitza Stark Gene: casp8 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.40 CASP8 Zornitza Stark Classified gene: CASP8 as Green List (high evidence)
Hereditary Neuropathy v1.40 CASP8 Zornitza Stark Gene: casp8 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.39 CASP8 Zornitza Stark gene: CASP8 was added
gene: CASP8 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: CASP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP8 were set to 41026346
Phenotypes for gene: CASP8 were set to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Review for gene: CASP8 was set to GREEN
Added comment: 7 individuals from 5 families reported with ALPS. All had the same homozygous missense variant, p.Arg265Trp. Some known to be distantly related. CIDP was a common manifestation.

GREEN but any variants apart from the founder variant should be treated with caution.
Sources: Literature
Hereditary Neuropathy v1.38 AGTPBP1 Chirag Patel Phenotypes for gene: AGTPBP1 were changed from Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 to Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650
Publications for gene AGTPBP1 were changed from 30420557, 28600779, 30976113, 38153683, 28325758 to 30420557, 28600779, 30976113, 38153683, 28325758
Hereditary Neuropathy v1.37 DGUOK Chirag Patel Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
Publications for gene DGUOK were changed from 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938 to 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938
Hereditary Neuropathy v1.36 DHH Chirag Patel Phenotypes for gene: DHH were changed from 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080 to 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766
Hereditary Neuropathy v1.35 DDHD1 Chirag Patel Source Royal Melbourne Hospital was removed from DDHD1.
Source ClinGen was added to DDHD1.
Phenotypes for gene: DDHD1 were changed from Spastic paraplegia, occasionally cerebellar eye signs and subclinical axonal neuropathy to Hereditary spastic paraplegia 28, MONDO:0012256
Publications for gene DDHD1 were changed from 15786464, 23176821, 24989667, 27216551, 26944165, 28818478, 29980238, 27999540, 33600578 to 15786464, 23176821, 24989667, 27216551, 26944165, 28818478, 29980238, 27999540, 33600578
Hereditary Neuropathy v1.34 DDHD1 Chirag Patel Classified gene: DDHD1 as Green List (high evidence)
Hereditary Neuropathy v1.34 DDHD1 Chirag Patel Gene: ddhd1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.33 DDHD1 Chirag Patel reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15786464, 23176821, 24989667, 27216551, 26944165, 28818478, 29980238, 27999540, 33600578; Phenotypes: Hereditary spastic paraplegia 28, MONDO:0012256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v1.33 TTC19 Zornitza Stark Marked gene: TTC19 as ready
Hereditary Neuropathy v1.33 TTC19 Zornitza Stark Gene: ttc19 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.33 TTC19 Zornitza Stark Classified gene: TTC19 as Green List (high evidence)
Hereditary Neuropathy v1.33 TTC19 Zornitza Stark Gene: ttc19 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.32 TTC19 Zornitza Stark gene: TTC19 was added
gene: TTC19 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC19 were set to 40946707; 37927170; 25652355
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, MIM#615157
Review for gene: TTC19 was set to GREEN
Added comment: Neuropathy reported in at least 3 individuals with this condition.
Sources: Expert list
Hereditary Neuropathy v1.31 COX18 Zornitza Stark Marked gene: COX18 as ready
Hereditary Neuropathy v1.31 COX18 Zornitza Stark Gene: cox18 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.31 COX18 Zornitza Stark Classified gene: COX18 as Green List (high evidence)
Hereditary Neuropathy v1.31 COX18 Zornitza Stark Gene: cox18 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.30 COX18 Zornitza Stark gene: COX18 was added
gene: COX18 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX18 were set to 37468577; 40830826
Phenotypes for gene: COX18 were set to Mitochondrial disease (MONDO:0044970), COX18-related
Review for gene: COX18 was set to GREEN
Added comment: PMID 40830826: Two sibs presenting with early onset progressive axonal sensory-motor peripheral neuropathy Family 1 (consanguineous) - two sibs affected with axonal CMT and homozygous c.435-6A>G - NFE AF - 0.001531% Family 2 - 4 sibs affected with axonal CMT and homozygous Leu72Arg - MID PopMax AF - 0.07120% Family 3 - two sibs with axonal CMT and compound het variants confirmed in trans - Ala110Pro; Arg297Pro Functional assay on c.435-6A>G showed stable but defective COX18 isoform - impairs CIV assembly and activity resulting in the reduction of mitochondrial membrane potential.

Note earlier case report with multi-system mitochondrial disease, hence placing in this panel.
Sources: Literature
Hereditary Neuropathy v1.29 NDC1 Zornitza Stark Phenotypes for gene: NDC1 were changed from triple-A syndrome MONDO:0009279 to Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328
Hereditary Neuropathy v1.28 NDC1 Zornitza Stark reviewed gene: NDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v1.28 NOTCH2NLC_NIID_GGC Bryony Thompson Gene: NOTCH2NL was changed to NOTCH2NLC.
Hereditary Neuropathy v1.27 ZFHX3_SCA4_GGC Bryony Thompson SCA4_ZFHX3_GGC was changed to ZFHX3_SCA4_GGC
Hereditary Neuropathy v1.26 NOTCH2NLC_NIID_GGC Bryony Thompson NIID was changed to NOTCH2NLC_NIID_GGC
Hereditary Neuropathy v1.25 FXN_FRDA_GAA Bryony Thompson Marked STR: FXN_FRDA_GAA as ready
Hereditary Neuropathy v1.25 FXN_FRDA_GAA Bryony Thompson Str: fxn_frda_gaa has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.25 FXN_FRDA_GAA Bryony Thompson Classified STR: FXN_FRDA_GAA as Green List (high evidence)
Hereditary Neuropathy v1.25 FXN_FRDA_GAA Bryony Thompson Str: fxn_frda_gaa has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.24 FXN_FRDA_GAA Bryony Thompson STR: FXN_FRDA_GAA was added
STR: FXN_FRDA_GAA was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: FXN_FRDA_GAA were set to 20301458; 8596916
Phenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300
Review for STR: FXN_FRDA_GAA was set to GREEN
STR: FXN_FRDA_GAA was marked as clinically relevant
STR: FXN_FRDA_GAA was marked as current diagnostic
Added comment: NM_000144.4:c.165+1340GAA[X]
Loss of function is the mechanism of disease
Normal: 5-33 repeats
Mutable normal (premutation): 34-65 repeats
Borderline: 44-66 repeats
Full-penetrance: ≥66 repeats
Sources: Expert list
Hereditary Neuropathy v1.23 CAPRIN1 Bryony Thompson Marked gene: CAPRIN1 as ready
Hereditary Neuropathy v1.23 CAPRIN1 Bryony Thompson Gene: caprin1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.23 CAPRIN1 Bryony Thompson Classified gene: CAPRIN1 as Green List (high evidence)
Hereditary Neuropathy v1.23 CAPRIN1 Bryony Thompson Gene: caprin1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.22 Bryony Thompson removed STR:CANVAS_ACAGG from the panel
Hereditary Neuropathy v1.21 RFC1_CANVAS_ANNGN Bryony Thompson Repeated Sequence for RFC1_CANVAS_ANNGN was changed from AAGGG to ANNGN.
Hereditary Neuropathy v1.20 RFC1_CANVAS_ANNGN Bryony Thompson Marked STR: RFC1_CANVAS_ANNGN as ready
Hereditary Neuropathy v1.20 RFC1_CANVAS_ANNGN Bryony Thompson Str: rfc1_canvas_anngn has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.20 RFC1_CANVAS_ANNGN Bryony Thompson CANVAS was changed to RFC1_CANVAS_ANNGN
Hereditary Neuropathy v1.19 BAG3 Chirag Patel edited their review of gene: BAG3: Added comment: PMID: 37907725
7 individuals from the one family with distal motor neuronopathy (mean age of onset ~46 years). They presented with slowly progressive and symmetric distal weakness and atrophy of lower limb muscles, absent Achilles reflexes, and neurogenic changes on muscle biopsies. There were no sensory abnormalities or signs of myofibrillar myopathy. WES with segregation analysis identified a novel heterozygous truncating variant in the gene BAG3 in all affected family members [c.1513_1514insGGAC (p.Val505GlyfsTer6)]. There was autosomal dominant inheritance with incomplete penetrance in women. Western blot analysis of muscle tissue from 2 individuals showed presence of a truncated BAG3 protein. Functional studies of the variant were not performed.

PMID: 31853710
2 individuals from a Chinese family with adult-onset and moderate CMT. Nerve conduction velocity studies and sural nerve biopsy revealed an axonal sensorimotor neuropathy. MRI showed fatty infiltration more severe in the soleus and deep posterior compartment muscles. WES identified a missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.

PMID: 30145633
1 individual with axonal sensory-motor polyneuropathy, myopathy (and raised CK levels), rigid spine syndrome, and respiratory dysfunction (but no cardiomyopathy). MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, and it was de novo in the individual. Functional studies of the variant were not performed.

PMID: 28754666
9 affected individuals from 2 large multigenerational families with CMT phenotype, but no evidence of a myopathy. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.; Changed publications: PMID: 37907725, 31853710, 30145633, 28754666
Hereditary Neuropathy v1.19 BAG3 Chirag Patel Deleted their comment
Hereditary Neuropathy v1.19 BAG3 Chirag Patel changed review comment from: PMID: 37907725
7 individuals from the one family with distal motor neuronopathy (mean age of onset ~46 years). They presented with slowly progressive and symmetric distal weakness and atrophy of lower limb muscles, absent Achilles reflexes, and neurogenic changes on muscle biopsies. There were no sensory abnormalities or signs of myofibrillar myopathy. WES with segregation analysis identified a novel heterozygous truncating variant in the gene BAG3 in all affected family members [c.1513_1514insGGAC (p.Val505GlyfsTer6)]. There was autosomal dominant inheritance with incomplete penetrance in women. Western blot analysis of muscle tissue from 2 individuals showed presence of a truncated BAG3 protein. Functional studies of the variant were not performed.

PMID: 31853710
2 individuals from a Chinese family with adult-onset and moderate CMT. Nerve conduction velocity studies and sural nerve biopsy revealed an axonal sensorimotor neuropathy. MRI showed fatty infiltration more severe in the soleus and deep posterior compartment muscles. WES identified a missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.

PMID: 30145633
1 individual with axonal sensory-motor polyneuropathy, myopathy (and raised CK levels), rigid spine syndrome, and respiratory dysfunction (but no cardiomyopathy). MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, and it was de novo in the individual. Functional studies of the variant were not performed.

PMID: 28754666
9 affected individuals from 2 large multigenerational families with CMT phenotype, but no evidence of a myopathy. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.; to: PMID: 37907725
7 individuals from the one family with distal motor neuronopathy (mean age of onset ~46 years). They presented with slowly progressive and symmetric distal weakness and atrophy of lower limb muscles, absent Achilles reflexes, and neurogenic changes on muscle biopsies. There were no sensory abnormalities or signs of myofibrillar myopathy. WES with segregation analysis identified a novel heterozygous truncating variant in the gene BAG3 in all affected family members [c.1513_1514insGGAC (p.Val505GlyfsTer6)]. There was autosomal dominant inheritance with incomplete penetrance in women. Western blot analysis of muscle tissue from 2 individuals showed presence of a truncated BAG3 protein. Functional studies of the variant were not performed.

PMID: 31853710
2 individuals from a Chinese family with adult-onset and moderate CMT. Nerve conduction velocity studies and sural nerve biopsy revealed an axonal sensorimotor neuropathy. MRI showed fatty infiltration more severe in the soleus and deep posterior compartment muscles. WES identified a missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.

PMID: 30145633
1 individual with axonal sensory-motor polyneuropathy, myopathy (and raised CK levels), rigid spine syndrome, and respiratory dysfunction (but no cardiomyopathy). MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, and it was de novo in the individual. Functional studies of the variant were not performed.

PMID: 28754666
9 affected individuals from 2 large multigenerational families with CMT phenotype, but no evidence of a myopathy. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.
Hereditary Neuropathy v1.19 BAG3 Chirag Patel reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37907725, PMID: 31853710; Phenotypes: Neuronopathy, distal hereditary motor, autosomal dominant MONDO:0015362, Charcot-Marie-Tooth disease type 2 MONDO: 0018993; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v1.19 CAPRIN1 Shekeeb Mohammad gene: CAPRIN1 was added
gene: CAPRIN1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAPRIN1 were set to 39878554
Phenotypes for gene: CAPRIN1 were set to Childhood Dementia; Myoclonus-Ataxia; Sensorimotor Neuropathy; cerebellar atrophy; cortical atrophy
Penetrance for gene: CAPRIN1 were set to unknown
Review for gene: CAPRIN1 was set to GREEN
gene: CAPRIN1 was marked as current diagnostic
Added comment: Sources: Literature
Hereditary Neuropathy v1.19 RFC1 Bryony Thompson Classified gene: RFC1 as Green List (high evidence)
Hereditary Neuropathy v1.19 RFC1 Bryony Thompson Gene: rfc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.18 RFC1 Bryony Thompson Publications for gene: RFC1 were set to 30926972
Hereditary Neuropathy v1.17 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14 (MIM#617575) to RENI syndrome (MIM#617575)
Hereditary Neuropathy v1.16 EMILIN1 Zornitza Stark edited their review of gene: EMILIN1: Added comment: PMID 38963291: additional variant reported in an individual with neuropathy; however limited supporting evidence.; Changed publications: 31978608, 26462740, 38963291
Hereditary Neuropathy v1.16 NDC1 Bryony Thompson Marked gene: NDC1 as ready
Hereditary Neuropathy v1.16 NDC1 Bryony Thompson Gene: ndc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.16 NDC1 Bryony Thompson Classified gene: NDC1 as Green List (high evidence)
Hereditary Neuropathy v1.16 NDC1 Bryony Thompson Gene: ndc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.15 NDC1 Bryony Thompson gene: NDC1 was added
gene: NDC1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: NDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDC1 were set to 39003500; 19782045
Phenotypes for gene: NDC1 were set to triple-A syndrome MONDO:0009279
Review for gene: NDC1 was set to GREEN
Added comment: 7 cases from 4 consanguineous families (3 different variants: 1 intronic variants that causes in-frame RNA splice impact, 2 missense) with a Triple-A-like syndrome (including ID and neuropathy). Supporting cellular localisation studies were conducted in patient cell lines with the splice variant. NDC1 is required to anchor ALADIN (encoded by AAAS, the gene that causes Triple-A syndrome) in the nuclear pore complex.
Sources: Literature
Hereditary Neuropathy v1.14 SLC25A19 Bryony Thompson Marked gene: SLC25A19 as ready
Hereditary Neuropathy v1.14 SLC25A19 Bryony Thompson Gene: slc25a19 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.14 SLC25A19 Bryony Thompson Classified gene: SLC25A19 as Green List (high evidence)
Hereditary Neuropathy v1.14 SLC25A19 Bryony Thompson Gene: slc25a19 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.13 SLC25A19 Bryony Thompson gene: SLC25A19 was added
gene: SLC25A19 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A19 were set to 20301539
Phenotypes for gene: SLC25A19 were set to Progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382
Review for gene: SLC25A19 was set to GREEN
gene: SLC25A19 was marked as current diagnostic
Added comment: Neuropathy is a feature of the condition
Sources: Literature
Hereditary Neuropathy v1.12 SCA4_ZFHX3_GGC Bryony Thompson Marked STR: SCA4_ZFHX3_GGC as ready
Hereditary Neuropathy v1.12 SCA4_ZFHX3_GGC Bryony Thompson Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.12 SCA4_ZFHX3_GGC Bryony Thompson Classified STR: SCA4_ZFHX3_GGC as Green List (high evidence)
Hereditary Neuropathy v1.12 SCA4_ZFHX3_GGC Bryony Thompson Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.11 SCA4_ZFHX3_GGC Bryony Thompson STR: SCA4_ZFHX3_GGC was added
STR: SCA4_ZFHX3_GGC was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for STR: SCA4_ZFHX3_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA4_ZFHX3_GGC were set to 38035881; 38197134
Phenotypes for STR: SCA4_ZFHX3_GGC were set to spinocerebellar ataxia type 4 MONDO:0010847
Review for STR: SCA4_ZFHX3_GGC was set to GREEN
STR: SCA4_ZFHX3_GGC was marked as clinically relevant
Added comment: PMID: 38035881 - repeat expansion is identified in 5 Swedish ataxia families that developed balance and gait disturbances at 15 to 60 years of age and had sensory neuropathy and slow saccades.
PMID: 38197134 - Poly-glycine GGC expansion in the last coding exon of ZFHX3 was identified in the original SCA4 Utah pedigree (Swedish origin) in the region of high linkage identified on 16q22. The expansion was also identified in an Iowa ataxia pedigree of Swedish ancestry. The expansion wasn’t identified in 11,258 exomes, 7,650 WGS probands without neurological phenotype, or 803 individuals with ataxia. Grch38 chr16:72787695–72787758
Normal allele <30 repeats, 21 repeats is the most common (derived from 33,094 individuals)
Undefined pathogenic 30-48 repeats
Definitive pathogenicity 48+ repeats
Sources: Literature
Hereditary Neuropathy v1.10 NARS Zornitza Stark changed review comment from: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).; to: Both MOIs assessed as MODERATE by ClinGen.
Hereditary Neuropathy v1.10 NARS Zornitza Stark commented on gene: NARS: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).
Hereditary Neuropathy v1.10 PLA2G16 Zornitza Stark Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573), PLA2G16-related to Lipodystrophy, familial partial, type 9, MIM# 620683
Hereditary Neuropathy v1.9 OPA3 Bryony Thompson Marked gene: OPA3 as ready
Hereditary Neuropathy v1.9 OPA3 Bryony Thompson Gene: opa3 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.9 OPA3 Bryony Thompson Classified gene: OPA3 as Green List (high evidence)
Hereditary Neuropathy v1.9 OPA3 Bryony Thompson Gene: opa3 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.8 OPA3 Bryony Thompson gene: OPA3 was added
gene: OPA3 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OPA3 were set to 31119193; 28050599
Phenotypes for gene: OPA3 were set to Optic atrophy 3 MONDO:0008133
Mode of pathogenicity for gene: OPA3 was set to Other
Review for gene: OPA3 was set to GREEN
gene: OPA3 was marked as current diagnostic
Added comment: Peripheral neuropathy has been reported in multiple individuals with ADOA associated with OPA3. Haploinsufficiency is not expected to be the mechanism of disease. Gain of function or dominant negative effect have been suggested mechanisms of disease.
PMID: 31119193 - 9 of the 12 affected individuals from 3 families with OPA3 missense (p.Met8Thr, & p.Gln105Glu) had a possible or confirmed peripheral neuropathy. Was presenting feature in a single case.
PMID: 28050599 - de novo c.235C>G p.(Leu79Val) identified in a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy.
Sources: Literature
Hereditary Neuropathy v1.7 PLA2G16 Zornitza Stark Marked gene: PLA2G16 as ready
Hereditary Neuropathy v1.7 PLA2G16 Zornitza Stark Added comment: Comment when marking as ready: HGNC name is PLAAT3
Hereditary Neuropathy v1.7 PLA2G16 Zornitza Stark Gene: pla2g16 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.7 PLA2G16 Zornitza Stark Tag new gene name tag was added to gene: PLA2G16.
Hereditary Neuropathy v1.7 PLA2G16 Zornitza Stark Marked gene: PLA2G16 as ready
Hereditary Neuropathy v1.7 PLA2G16 Zornitza Stark Gene: pla2g16 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.7 PLA2G16 Zornitza Stark Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573) to Lipodystrophy (MONDO:0006573), PLA2G16-related
Hereditary Neuropathy v1.6 PLA2G16 Zornitza Stark Mode of inheritance for gene: PLA2G16 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v1.5 PLA2G16 Zornitza Stark Classified gene: PLA2G16 as Green List (high evidence)
Hereditary Neuropathy v1.5 PLA2G16 Zornitza Stark Gene: pla2g16 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.4 PLA2G16 Lauren Rogers edited their review of gene: PLA2G16: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v1.4 PLA2G16 Lauren Rogers gene: PLA2G16 was added
gene: PLA2G16 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: PLA2G16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLA2G16 were set to PMID: 37919452
Phenotypes for gene: PLA2G16 were set to Lipodystrophy (MONDO:0006573)
Review for gene: PLA2G16 was set to GREEN
Added comment: 7 patients from 4 unrelated consanguineous families with homozygous loss of function PTC variants. Features: 4/7 metabolic features, 6/7 neurological/skeletal features, 3/7 Psychomotor retardation/intellectual disability, 5/7 demyelinating peripheral neuropathy.

Null mouse and patient derived white adipose tissue showed enrichment of arachidonic acid-containing membrane phospholipids and a strong decrease in PPARγ. CRISPR–Cas9-mediated PLAAT3 inactivation in human adipose stem cells induced insulin resistance, altered adipocyte differentiation with decreased lipid droplet formation and reduced the expression of adipogenic and mature adipocyte markers, including PPARγ.
Sources: Literature
Hereditary Neuropathy v1.4 COQ7 Zornitza Stark Phenotypes for gene: COQ7 were changed from Distal hereditary motor neuropathy, COQ7-related (MONDO#0018894) to Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402
Hereditary Neuropathy v1.3 COQ7 Zornitza Stark reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v1.3 PPOX Zornitza Stark Phenotypes for gene: PPOX were changed from Porphyria variegata, MIM# 176200 to Porphyria variegata, MIM# 176200; Variegate porphyria, childhood-onset, MIM# 620483
Hereditary Neuropathy v1.2 PPOX Zornitza Stark Publications for gene: PPOX were set to
Hereditary Neuropathy v1.1 PPOX Zornitza Stark Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v1.0 PPOX Zornitza Stark edited their review of gene: PPOX: Added comment: Bi-allelic variants cause childhood onset disease.; Changed publications: 9811936, 11286631, 33159949; Changed phenotypes: Porphyria variegata, MIM# 176200, Variegate porphyria, childhood-onset, MIM# 620483; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v1.0 Bryony Thompson promoted panel to version 1.0
Hereditary Neuropathy v0.275 SPAST Bryony Thompson Marked gene: SPAST as ready
Hereditary Neuropathy v0.275 SPAST Bryony Thompson Gene: spast has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.275 SPAST Sangavi Sivagnanasundram changed review comment from: Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A.

PMID: 322442913; 22192498
3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed.; to: Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A.

PMID: 32242913; 22192498
3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed.
Hereditary Neuropathy v0.275 SPAST Sangavi Sivagnanasundram Deleted their comment
Hereditary Neuropathy v0.275 SPAST Sangavi Sivagnanasundram edited their review of gene: SPAST: Changed publications: 32242913, 22192498, 26374131, 20301339
Hereditary Neuropathy v0.275 HEXA Bryony Thompson Marked gene: HEXA as ready
Hereditary Neuropathy v0.275 HEXA Bryony Thompson Gene: hexa has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.275 PLA2G6 Sangavi Sivagnanasundram edited their review of gene: PLA2G6: Added comment: Established gene-disease associated with neuropathy as a clinical feature.

PMID: 25164370
9 individuals from 6 unrelated families with motor or sensory-motor neuropathy. All individuals were found to share the p.V691del variant which is a founder variant in the North African population.; Changed rating: GREEN; Changed publications: 25164370
Hereditary Neuropathy v0.275 PDHA1 Sangavi Sivagnanasundram edited their review of gene: PDHA1: Added comment: PMID: 33661577
Young boy from China with lethal neuropathy and the presence of a de novo mutation in PDHA1 (c.1167_1170del; p.Ser390LysfsTer33) that is clinically significant for Leigh Syndrome. PDCD is known a biochemical pathway in individuals with Leigh Syndrome.

PMID: 36693417
Multiple reported individual with sensory-motor polyneuropathy and a high serum lactate. One individual identified with a hemizygous mutation (p.Arg88Cys) causative of pyruvate dehydrogenase complex deficiency.; Changed rating: GREEN; Changed publications: 33661577, 36693417, 34138529; Changed phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM#312170
Hereditary Neuropathy v0.275 MTTP Sangavi Sivagnanasundram edited their review of gene: MTTP: Added comment: Reported in multiple individuals with progressive neuropathy due to the deficiency of fat-soluble vitamins (vitamins E, A, D, K). Neuropathy typically presents due to a lack of vitamin E in individuals.; Changed rating: GREEN; Changed publications: 10679949, 29540175
Hereditary Neuropathy v0.275 HEXA Bryony Thompson Publications for gene: HEXA were set to
Hereditary Neuropathy v0.274 ERCC8 Sangavi Sivagnanasundram edited their review of gene: ERCC8: Added comment: Established gene-disease association with progressive neuropathy a feature in individuals with Cockayne Syndrome.

PMID: 29422660
In vitro minigene assay was conducted to test the splice effect of c.173+1119G>C which showed the introduction of a premature termination codon at the end of exon resulting in loss of function of the ERCC8 protein.; Changed rating: GREEN; Changed publications: 25453614, 29422660, 4320535
Hereditary Neuropathy v0.274 ERCC6 Sangavi Sivagnanasundram edited their review of gene: ERCC6: Added comment: PMID: 25376329
Two siblings from a consanguineous family with bilateral peripheral neuropathy and a homozygous splice variant in ERCC6 (c.1992+3A>G).

PMID: 25453614
Progressive neuropathy has been identified in multiple individuals with Cockayne Syndrome.; Changed rating: GREEN; Changed publications: 25376329, 25453614
Hereditary Neuropathy v0.274 ASAH1 Sangavi Sivagnanasundram edited their review of gene: ASAH1: Added comment: PMID:27026573
Siblings from a consanguineous family with SMA phenotype and a homozygous mutation in ASAH1.

PMID: 22703880
5 individuals from 2 unrelated families with SMA and a homozygous mutation (Thr42Met) in ASAH1.

In vivo functional assay using Zebrafish model showed a loss in motor neuron axonal branching and increased apotheosis in the spinal cord suggesting that ASAH plays an integral role in motor-axonal branching and in the survival of spinal cord neurons.; Changed rating: GREEN; Changed publications: 27026573, 22703880; Changed phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy (MIM#159950)
Hereditary Neuropathy v0.274 SPAST Sangavi Sivagnanasundram edited their review of gene: SPAST: Added comment: Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A.

PMID: 322442913; 22192498
3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed.; Changed rating: GREEN; Changed publications: 322442913, 22192498, 26374131, 20301339
Hereditary Neuropathy v0.274 HEXA Sangavi Sivagnanasundram changed review comment from: HEXA is associated with the clinical phenotype known as Tay-Sachs disease.
Evidence of sensory neuropathy was present in two unrelated individuals with tay Sachs disease however genetic testing wasn’t conducted to confirm the presence of a HEXA genetic variant in either individual.; to: PMID: 3159334, 1838393: HEXA is associated with the clinical phenotype known as Tay-Sachs disease.
Evidence of sensory neuropathy was present in two unrelated individuals with tay Sachs disease however genetic testing wasn’t conducted to identify genetic pathogenesis.
Hereditary Neuropathy v0.274 HEXA Sangavi Sivagnanasundram edited their review of gene: HEXA: Added comment: Established gene disease associated with >3 unrelated individuals with neuropathy as a clinical feature.
Mutations in HEXA gene cause juvenile gm2 gangliosidosis (jGM2) and Tay Sachs is a well established form of jGM2.

PMID: 17015493
One individual with variant in HEXA and diagnosis of Tay Sachs

PMID: 18642377
Multiple individuals diagnosed with late onset tay-Sachs and identified to have axonal polyneuropathy in 8 individuals.; Changed rating: GREEN; Changed publications: 17015493, 18642377, 3159334, 1838393
Hereditary Neuropathy v0.274 IFRD1 Zornitza Stark Tag refuted tag was added to gene: IFRD1.
Hereditary Neuropathy v0.274 PEX12 Bryony Thompson Marked gene: PEX12 as ready
Hereditary Neuropathy v0.274 PEX12 Bryony Thompson Gene: pex12 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.274 PEX12 Bryony Thompson Publications for gene: PEX12 were set to 24627108
Hereditary Neuropathy v0.273 PEX12 Bryony Thompson Classified gene: PEX12 as Green List (high evidence)
Hereditary Neuropathy v0.273 PEX12 Bryony Thompson Gene: pex12 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.272 PEX12 Bryony Thompson Deleted their comment
Hereditary Neuropathy v0.272 PEX12 Bryony Thompson edited their review of gene: PEX12: Added comment: Neuropathy as a feature of the conditon in 45% (9/14) families with an Egyptian founder variant ((c.1047_1049del p.(Gln349del)) and also in an additional proband.; Changed rating: GREEN; Changed publications: 24627108, 33123925
Hereditary Neuropathy v0.272 NIPA1 Bryony Thompson Marked gene: NIPA1 as ready
Hereditary Neuropathy v0.272 NIPA1 Bryony Thompson Gene: nipa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.272 NIPA1 Bryony Thompson Classified gene: NIPA1 as Green List (high evidence)
Hereditary Neuropathy v0.272 NIPA1 Bryony Thompson Gene: nipa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.271 NIPA1 Bryony Thompson edited their review of gene: NIPA1: Added comment: Neuropathy is not a prominent feature of the complicated HSP sometimes reported associated with this gene. However, it has been reported in 6/110 (5.5%) of NIPA1-associated complicated HSP cases.; Changed rating: GREEN; Changed publications: 34863451
Hereditary Neuropathy v0.271 NIPA1 Bryony Thompson Deleted their comment
Hereditary Neuropathy v0.271 IFRD1 Bryony Thompson Marked gene: IFRD1 as ready
Hereditary Neuropathy v0.271 IFRD1 Bryony Thompson Gene: ifrd1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.271 DCAF8 Bryony Thompson Marked gene: DCAF8 as ready
Hereditary Neuropathy v0.271 DCAF8 Bryony Thompson Gene: dcaf8 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.271 DCAF8 Bryony Thompson Publications for gene: DCAF8 were set to
Hereditary Neuropathy v0.270 CCT5 Bryony Thompson Marked gene: CCT5 as ready
Hereditary Neuropathy v0.270 CCT5 Bryony Thompson Gene: cct5 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.270 CCT5 Bryony Thompson Publications for gene: CCT5 were set to
Hereditary Neuropathy v0.269 CCT5 Bryony Thompson edited their review of gene: CCT5: Added comment: Now two families reported with two different missense variants (Leu224Val and His147Arg).; Changed publications: 16399879, 25124038, 25345891, 33076433, 37237456
Hereditary Neuropathy v0.269 TYMP Bryony Thompson Marked gene: TYMP as ready
Hereditary Neuropathy v0.269 TYMP Bryony Thompson Gene: tymp has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.269 PMM2 Bryony Thompson Marked gene: PMM2 as ready
Hereditary Neuropathy v0.269 PMM2 Bryony Thompson Gene: pmm2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.269 PMM2 Bryony Thompson Publications for gene: PMM2 were set to
Hereditary Neuropathy v0.268 PRNP Bryony Thompson Marked gene: PRNP as ready
Hereditary Neuropathy v0.268 PRNP Bryony Thompson Gene: prnp has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.268 PRNP Bryony Thompson Phenotypes for gene: PRNP were changed from Prion diseases to Prion diseases; peripheral neuropathy; chronic diarrhea; dementia
Hereditary Neuropathy v0.267 PRNP Bryony Thompson Publications for gene: PRNP were set to
Hereditary Neuropathy v0.266 PRNP Bryony Thompson reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31953922, 31907995, 29928661, 27716661, 26926995, 24224623, 26768678; Phenotypes: peripheral neuropathy, chronic diarrhea, dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.266 PMM2 Sangavi Sivagnanasundram edited their review of gene: PMM2: Changed rating: GREEN
Hereditary Neuropathy v0.266 GLA Bryony Thompson Marked gene: GLA as ready
Hereditary Neuropathy v0.266 GLA Bryony Thompson Gene: gla has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.266 GLA Bryony Thompson Publications for gene: GLA were set to
Hereditary Neuropathy v0.265 EXOSC8 Bryony Thompson Deleted their review
Hereditary Neuropathy v0.265 EXOSC8 Bryony Thompson commented on gene: EXOSC8
Hereditary Neuropathy v0.265 EXOSC8 Bryony Thompson Deleted their review
Hereditary Neuropathy v0.265 DARS2 Bryony Thompson Marked gene: DARS2 as ready
Hereditary Neuropathy v0.265 DARS2 Bryony Thompson Gene: dars2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.265 SPAST Sangavi Sivagnanasundram reviewed gene: SPAST: Rating: RED; Mode of pathogenicity: None; Publications: 20301339; Phenotypes: Spastic paraplegia 4, autosomal dominant 182601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.265 PMM2 Sangavi Sivagnanasundram reviewed gene: PMM2: Rating: RED; Mode of pathogenicity: None; Publications: 20301507, 20301289; Phenotypes: Congenital disorder of glycosylation, type Ia (MIM#212065); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.265 HEXA Sangavi Sivagnanasundram reviewed gene: HEXA: Rating: RED; Mode of pathogenicity: None; Publications: 3159334, 1838393; Phenotypes: Tay-Sachs disease MIM#272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.265 ASAH1 Sangavi Sivagnanasundram reviewed gene: ASAH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Farber lipogranulomatosis (MIM#228000), Spinal muscular atrophy with progressive myoclonic epilepsy (MIM#159950); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.265 XK Zornitza Stark Marked gene: XK as ready
Hereditary Neuropathy v0.265 XK Zornitza Stark Gene: xk has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.265 XK Zornitza Stark Phenotypes for gene: XK were changed from McLeod syndrome with or without chronic granulomatous disease, 300842; acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy to McLeod syndrome with or without chronic granulomatous disease (MIM#300842)
Hereditary Neuropathy v0.264 XK Zornitza Stark Publications for gene: XK were set to
Hereditary Neuropathy v0.263 TWNK Zornitza Stark Marked gene: TWNK as ready
Hereditary Neuropathy v0.263 TWNK Zornitza Stark Gene: twnk has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.263 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from HMSN; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 to Perrault syndrome (MIM#616138); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286
Hereditary Neuropathy v0.262 TWNK Zornitza Stark Publications for gene: TWNK were set to 25254289; 25355836; 27650058; 28178980
Hereditary Neuropathy v0.261 TWNK Zornitza Stark Mode of inheritance for gene: TWNK was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.261 TWNK Zornitza Stark Mode of inheritance for gene: TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.260 TWNK Zornitza Stark reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 35011763; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.260 TWNK Zornitza Stark Publications for gene: TWNK were set to
Hereditary Neuropathy v0.259 TWNK Zornitza Stark Mode of inheritance for gene: TWNK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.258 TUBB3 Zornitza Stark Marked gene: TUBB3 as ready
Hereditary Neuropathy v0.258 TUBB3 Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.258 TUBB3 Zornitza Stark Phenotypes for gene: TUBB3 were changed from Fibrosis of extraocular muscles, congenital, 3A; HMSN to Fibrosis of extraocular muscles, congenital, 3A (MIM#600638); Neuropathy
Hereditary Neuropathy v0.257 TUBB3 Zornitza Stark Publications for gene: TUBB3 were set to
Hereditary Neuropathy v0.256 TUBB3 Zornitza Stark reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34652576; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A (MIM#600638), Neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.256 TTR Zornitza Stark Marked gene: TTR as ready
Hereditary Neuropathy v0.256 TTR Zornitza Stark Gene: ttr has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.256 TTR Zornitza Stark Phenotypes for gene: TTR were changed from Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN to Amyloidosis, hereditary, transthyretin-related MIM#105210; Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN
Hereditary Neuropathy v0.255 TTR Zornitza Stark Publications for gene: TTR were set to
Hereditary Neuropathy v0.254 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Hereditary Neuropathy v0.254 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.254 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791; MIM#612073); ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy
Hereditary Neuropathy v0.253 SUCLA2 Zornitza Stark Publications for gene: SUCLA2 were set to
Hereditary Neuropathy v0.252 SUCLA2 Zornitza Stark Classified gene: SUCLA2 as Amber List (moderate evidence)
Hereditary Neuropathy v0.252 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.251 SUCLA2 Zornitza Stark reviewed gene: SUCLA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35235001; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791, MIM#612073); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.251 SOX10 Zornitza Stark Marked gene: SOX10 as ready
Hereditary Neuropathy v0.251 SOX10 Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.251 SOX10 Zornitza Stark Phenotypes for gene: SOX10 were changed from PCWH syndrome, 609136; Waardenburg syndrome, type 4C, 613266; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; HMSN to PCWH Syndrome (MIM#609136; MONDO:0012198); Waardenburg syndrome, type 4C, 613266; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; HMSN
Hereditary Neuropathy v0.250 SOX10 Zornitza Stark Publications for gene: SOX10 were set to
Hereditary Neuropathy v0.249 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Hereditary Neuropathy v0.249 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.249 SNAP29 Zornitza Stark Phenotypes for gene: SNAP29 were changed from Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528); Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life
Hereditary Neuropathy v0.248 SNAP29 Zornitza Stark Publications for gene: SNAP29 were set to
Hereditary Neuropathy v0.247 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Hereditary Neuropathy v0.247 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.247 SLC52A3 Zornitza Stark Phenotypes for gene: SLC52A3 were changed from dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease to Brown-Vialetto-Van Laere syndrome 1 (MIM#211530); dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease
Hereditary Neuropathy v0.246 SLC52A3 Zornitza Stark Publications for gene: SLC52A3 were set to
Hereditary Neuropathy v0.245 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Hereditary Neuropathy v0.245 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.245 SLC52A2 Zornitza Stark Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2 to Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867)
Hereditary Neuropathy v0.244 SLC52A2 Zornitza Stark Publications for gene: SLC52A2 were set to
Hereditary Neuropathy v0.243 SCYL1 Zornitza Stark Marked gene: SCYL1 as ready
Hereditary Neuropathy v0.243 SCYL1 Zornitza Stark Gene: scyl1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.243 SCYL1 Zornitza Stark Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy to Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719); acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744); Spinocerebellar ataxia, autosomal recessive 21; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Hereditary Neuropathy v0.242 SCYL1 Zornitza Stark Publications for gene: SCYL1 were set to
Hereditary Neuropathy v0.241 SACS Zornitza Stark Marked gene: SACS as ready
Hereditary Neuropathy v0.241 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.241 SACS Zornitza Stark Phenotypes for gene: SACS were changed from Spastic ataxia Charlevoix-Saguenay type; HMSN to Charlevoix-Saguenay spastic ataxia (MONDO:0010041; MIM#270550)
Hereditary Neuropathy v0.240 SACS Zornitza Stark Publications for gene: SACS were set to
Hereditary Neuropathy v0.239 SACS Zornitza Stark Tag SV/CNV tag was added to gene: SACS.
Hereditary Neuropathy v0.239 PTRH2 Zornitza Stark Marked gene: PTRH2 as ready
Hereditary Neuropathy v0.239 PTRH2 Zornitza Stark Gene: ptrh2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.239 PTRH2 Zornitza Stark Phenotypes for gene: PTRH2 were changed from Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy to Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263); Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy
Hereditary Neuropathy v0.238 PTRH2 Zornitza Stark Publications for gene: PTRH2 were set to
Hereditary Neuropathy v0.237 XK Sangavi Sivagnanasundram reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11761473; Phenotypes: McLeod syndrome with or without chronic granulomatous disease (MIM#300842); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary Neuropathy v0.237 TWNK Sangavi Sivagnanasundram reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 25254289, 25355836, 27650058, 28178980; Phenotypes: Perrault syndrome (MIM#616138); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.237 TUBB3 Sangavi Sivagnanasundram reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 20074521; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A (MIM#600638); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy v0.237 TTR Sangavi Sivagnanasundram reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301373, 8071954, 19180884, 24101130; Phenotypes: Amyloidosis, hereditary, transthyretin-related MIM#105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.237 SUCLA2 Sangavi Sivagnanasundram reviewed gene: SUCLA2: Rating: RED; Mode of pathogenicity: None; Publications: 20301762; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791, MIM#612073); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.237 SOX10 Sangavi Sivagnanasundram reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 15004559; Phenotypes: PCWH Syndrome (MIM#609136, MONDO:0012198); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy v0.237 SNAP29 Sangavi Sivagnanasundram reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: None; Publications: 33977139; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.237 SLC52A3 Sangavi Sivagnanasundram reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20206331; Phenotypes: Brown-Vialetto-Van Laere syndrome 1 (MIM#211530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.237 SLC52A2 Sangavi Sivagnanasundram reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22740598, 24253200; Phenotypes: Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.237 SCYL1 Sangavi Sivagnanasundram reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26581903, 30531813; Phenotypes: Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719), acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744); Mode of inheritance: None
Hereditary Neuropathy v0.237 SACS Sangavi Sivagnanasundram reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301432, 20876471; Phenotypes: Charlevoix-Saguenay spastic ataxia (MONDO:0010041, MIM#270550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.237 PTRH2 Sangavi Sivagnanasundram reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25574476, 27129381, 28328138; Phenotypes: Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.237 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Hereditary Neuropathy v0.237 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.237 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy to Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273); Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy
Hereditary Neuropathy v0.236 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to
Hereditary Neuropathy v0.235 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Hereditary Neuropathy v0.235 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.235 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500; HMSN to Optic atrophy plus syndrome (MIM#125250)
Hereditary Neuropathy v0.234 OPA1 Zornitza Stark Publications for gene: OPA1 were set to
Hereditary Neuropathy v0.233 PDYN Zornitza Stark Marked gene: PDYN as ready
Hereditary Neuropathy v0.233 PDYN Zornitza Stark Gene: pdyn has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.233 PDYN Zornitza Stark Phenotypes for gene: PDYN were changed from Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23 to Spinocerebellar ataxia 23 (MIM#610245); Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23
Hereditary Neuropathy v0.232 PDYN Zornitza Stark Publications for gene: PDYN were set to
Hereditary Neuropathy v0.231 PDYN Zornitza Stark reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 23 (MIM#610245); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.231 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Hereditary Neuropathy v0.231 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.231 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Hereditary Neuropathy v0.230 PEX7 Zornitza Stark Classified gene: PEX7 as Red List (low evidence)
Hereditary Neuropathy v0.230 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.229 PHYH Zornitza Stark Marked gene: PHYH as ready
Hereditary Neuropathy v0.229 PHYH Zornitza Stark Gene: phyh has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.229 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from Refsum disease; Phytanic acid storage disease to Refsum Disease MIM#266500
Hereditary Neuropathy v0.228 PHYH Zornitza Stark Publications for gene: PHYH were set to
Hereditary Neuropathy v0.227 PHYH Zornitza Stark reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Refsum Disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.227 PLA2G6 Zornitza Stark Marked gene: PLA2G6 as ready
Hereditary Neuropathy v0.227 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.227 PLA2G6 Zornitza Stark Phenotypes for gene: PLA2G6 were changed from Infantile-onset, progressive neurodegeneration (tetraplegia, dementia, visual loss) and axonal sensory-motor neuropathy, globus pallidus iron deposition on MRI to Infantile neuroaxonal dystrophy 1 (MIM#256600); Neurodegeneration with brain iron accumulation 2B (MIM#610217)
Hereditary Neuropathy v0.226 PLA2G6 Zornitza Stark Publications for gene: PLA2G6 were set to
Hereditary Neuropathy v0.225 PLA2G6 Zornitza Stark reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29859652; Phenotypes: Infantile neuroaxonal dystrophy 1 (MIM#256600), Neurodegeneration with brain iron accumulation 2B (MIM#610217), Parkinson disease 14, autosomal recessive (MIM#612953); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.225 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Hereditary Neuropathy v0.225 PLP1 Zornitza Stark Gene: plp1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.225 PLP1 Zornitza Stark Phenotypes for gene: PLP1 were changed from Pelizaeus-Merzbacher disease; Infantile-onset, nystagmus, cognitive impairment, spasticity and ataxia, leukodystrophy on MRI, mild multifocal SNCV neuropathy seen with null mutations and more mild phenotype of mild spasticity and ataxia; HMSN to Pelizaeus-Merzbacher disease (MIM#312080)
Hereditary Neuropathy v0.224 PLP1 Zornitza Stark Publications for gene: PLP1 were set to
Hereditary Neuropathy v0.223 PLP1 Zornitza Stark Classified gene: PLP1 as Amber List (moderate evidence)
Hereditary Neuropathy v0.223 PLP1 Zornitza Stark Gene: plp1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.222 PNKP Zornitza Stark Marked gene: PNKP as ready
Hereditary Neuropathy v0.222 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.222 PNKP Zornitza Stark Phenotypes for gene: PNKP were changed from Ataxia-oculomotor apraxia 4, 616267; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; HMSN to Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589); Ataxia-oculomotor apraxia 4 (MIM#616267)
Hereditary Neuropathy v0.221 PNKP Zornitza Stark Publications for gene: PNKP were set to
Hereditary Neuropathy v0.220 PNPLA6 Zornitza Stark Marked gene: PNPLA6 as ready
Hereditary Neuropathy v0.220 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.220 PNPLA6 Zornitza Stark Phenotypes for gene: PNPLA6 were changed from progressive distal motor neuropathy beginning in early through late adolescence; Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia to Laurence-Moon Syndrome (LMS) MIM#245800; Spastic Paraplegia Type 39 MIM#612020
Hereditary Neuropathy v0.219 PNPLA6 Zornitza Stark Publications for gene: PNPLA6 were set to
Hereditary Neuropathy v0.218 PRNP Sangavi Sivagnanasundram changed review comment from: Neuropathy not an established feature of CAA - only one reported family.
PMID: 24224623
Multigenerational British family with symptoms of mixed neuropathy (predominantly sensory and autonomic) with a Y163X truncation mutation with the M129V polymorphism.; to: Neuropathy not an established feature of PRNP-related CAA - only one reported family.
PMID: 24224623
Multigenerational British family with symptoms of mixed neuropathy (predominantly sensory and autonomic) with a Y163X truncation mutation with the M129V polymorphism.
Hereditary Neuropathy v0.218 POLG Zornitza Stark Marked gene: POLG as ready
Hereditary Neuropathy v0.218 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.218 POLG Zornitza Stark Phenotypes for gene: POLG were changed from Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1; Cardiomyopathy; sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); HMSN to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
Hereditary Neuropathy v0.217 POLG Zornitza Stark Publications for gene: POLG were set to
Hereditary Neuropathy v0.216 PRNP Sangavi Sivagnanasundram reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: None; Publications: 24224623; Phenotypes: Inherited prion disease, Cerebral amyloid angiopathy, PRNP-related (MIM#137440); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy v0.216 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 POLG Sangavi Sivagnanasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301791; Phenotypes: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 PNPLA6 Sangavi Sivagnanasundram reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25299038, 18313024; Phenotypes: Laurence-Moon Syndrome (LMS) MIM#245800, Spastic Paraplegia Type 39 MIM#612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 PNKP Sangavi Sivagnanasundram reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30039206, 27066567, 25728773; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589), Ataxia-oculomotor apraxia 4 (MIM#616267); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 PLP1 Sangavi Sivagnanasundram reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301361, 11872612; Phenotypes: Pelizaeus-Merzbacher disease (MIM#312080); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy v0.215 PLA2G6 Sangavi Sivagnanasundram reviewed gene: PLA2G6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile neuroaxonal dystrophy 1 (MIM#256600), Neurodegeneration with brain iron accumulation 2B (MIM#610217), Parkinson disease 14, autosomal recessive (MIM#612953); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 PHYH Sangavi Sivagnanasundram reviewed gene: PHYH: Rating: AMBER; Mode of pathogenicity: None; Publications: 2433405, 20301527; Phenotypes: Adult Refsum Disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 PEX7 Sangavi Sivagnanasundram reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: 20301447, 12325024; Phenotypes: Peroxisome biogenesis disorder 9B (MIM#614879); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 PDYN Sangavi Sivagnanasundram reviewed gene: PDYN: Rating: AMBER; Mode of pathogenicity: None; Publications: 21035104; Phenotypes: Spinocerebellar ataxia 23 (MIM#610245); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy v0.215 OPA1 Sangavi Sivagnanasundram reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240368, 18065439, 20157015, 21112924; Phenotypes: Optic atrophy plus syndrome (MIM#125250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy v0.215 NGLY1 Sangavi Sivagnanasundram reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581936, 27388694, 29419975; Phenotypes: Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 SURF1 Sangavi Sivagnanasundram reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843204, 9837813; Phenotypes: Charcot-Marie-Tooth disease, type 4K (MIM#616684, MONDO:0014733); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 TECPR2 Sangavi Sivagnanasundram reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36137062, 26542466, 23176824; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay (HSAN) (MIM#615031); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 TYMP Sangavi Sivagnanasundram reviewed gene: TYMP: Rating: AMBER; Mode of pathogenicity: Other; Publications: 20301358, 14757860; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 MTTP Zornitza Stark Marked gene: MTTP as ready
Hereditary Neuropathy v0.215 MTTP Zornitza Stark Gene: mttp has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.215 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy to Abetalipoproteinemia (MIM#200100); Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy
Hereditary Neuropathy v0.214 MTTP Zornitza Stark Publications for gene: MTTP were set to
Hereditary Neuropathy v0.213 MTTP Zornitza Stark reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33994405; Phenotypes: Abetalipoproteinemia (MIM#200100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.213 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Hereditary Neuropathy v0.213 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.213 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Hereditary Neuropathy v0.212 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Hereditary Neuropathy v0.212 ATM Zornitza Stark Marked gene: ATM as ready
Hereditary Neuropathy v0.212 ATM Zornitza Stark Gene: atm has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.212 ATM Zornitza Stark Phenotypes for gene: ATM were changed from Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome to Ataxia-telangiectasia, MIM#208900; Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome
Hereditary Neuropathy v0.211 ATM Zornitza Stark Publications for gene: ATM were set to
Hereditary Neuropathy v0.210 ATM Zornitza Stark Classified gene: ATM as Amber List (moderate evidence)
Hereditary Neuropathy v0.210 ATM Zornitza Stark Gene: atm has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.209 ATM Zornitza Stark reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: None; Publications: 32259893; Phenotypes: Ataxia-telangiectasia, MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.209 AP1S1 Zornitza Stark Marked gene: AP1S1 as ready
Hereditary Neuropathy v0.209 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.209 AP1S1 Zornitza Stark Phenotypes for gene: AP1S1 were changed from Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma to MEDNIK Syndrome (MONDO:0012251, MIM#609313); Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Hereditary Neuropathy v0.208 AP1S1 Zornitza Stark Publications for gene: AP1S1 were set to
Hereditary Neuropathy v0.207 AP1S1 Zornitza Stark reviewed gene: AP1S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244301; Phenotypes: MEDNIK syndrome (MIM#609313); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.207 ABCA1 Zornitza Stark Marked gene: ABCA1 as ready
Hereditary Neuropathy v0.207 ABCA1 Zornitza Stark Gene: abca1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.207 ABCA1 Zornitza Stark Phenotypes for gene: ABCA1 were changed from HMSN; Tangier disease to Tangier Disease (MONDO:0008783; MIM#205400)
Hereditary Neuropathy v0.206 ABCA1 Zornitza Stark Publications for gene: ABCA1 were set to
Hereditary Neuropathy v0.205 ABCA1 Zornitza Stark changed review comment from: Neuropathy is a key feature of this metabolic disorder.; to: Neuropathy is a feature of this metabolic disorder. 54 individuals with neuropathy summarised in PMID 29582519.
Hereditary Neuropathy v0.205 ABCA1 Zornitza Stark edited their review of gene: ABCA1: Changed publications: 29582519
Hereditary Neuropathy v0.205 ABCA1 Zornitza Stark reviewed gene: ABCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tangier Disease (MONDO:0008783, MIM#205400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.205 MTTP Sangavi Sivagnanasundram reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: None; Publications: 30358967; Phenotypes: Abetalipoproteinemia (MIM#200100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.205 HEXB Sangavi Sivagnanasundram reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: 17251047, 14722612, 35420740; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms (MIM#268800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.205 GLA Sangavi Sivagnanasundram changed review comment from: Systemic disease manifesting a range of phenotypes including small-fibre neuropathy.
Neuropathy is not a specific feature of Fabry Disease however is shown to progress with age.; to: Systemic disease manifesting a range of phenotypes including small-fibre neuropathy.
Neuropathy is not a specific feature of Fabry Disease however is shown to progress with age.
Variants in GLA have been reported in individuals with neuropathy pain.
Hereditary Neuropathy v0.205 GLA Sangavi Sivagnanasundram reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: None; Publications: 19318041, 22497776; Phenotypes: Fabry Disease (MIM#301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary Neuropathy v0.205 C19orf12 Sangavi Sivagnanasundram reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21981780; Phenotypes: Neurodegeneration with brain iron accumulation 4 (NBIA) (MONDO:0013674); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.205 C12orf65 Sangavi Sivagnanasundram reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682, 23188110, 3479531, 24198383; Phenotypes: Spastic paraplegia 55 (MIM#615035); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.205 ATM Sangavi Sivagnanasundram reviewed gene: ATM: Rating: RED; Mode of pathogenicity: None; Publications: 20301790; Phenotypes: Ataxia-telangiectasia, MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.205 AP1S1 Sangavi Sivagnanasundram reviewed gene: AP1S1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23423674; Phenotypes: MEDNIK Syndrome (MONDO:0012251, MIM#609313); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.205 ABCA1 Sangavi Sivagnanasundram reviewed gene: ABCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 4165386, 31751110; Phenotypes: Tangier Disease (MONDO:0008783, MIM#205400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.205 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Hereditary Neuropathy v0.205 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.205 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase E1-alpha deficiency; HMSN to Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170
Hereditary Neuropathy v0.204 PDHA1 Zornitza Stark Publications for gene: PDHA1 were set to
Hereditary Neuropathy v0.203 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36693417, 33661577; Phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy v0.203 NTRK1 Zornitza Stark Marked gene: NTRK1 as ready
Hereditary Neuropathy v0.203 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.203 NTRK1 Zornitza Stark Phenotypes for gene: NTRK1 were changed from HSAN/SFN; Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis to hereditary sensory and autonomic neuropathy type 4 MONDO:0009746
Hereditary Neuropathy v0.202 NTRK1 Zornitza Stark Publications for gene: NTRK1 were set to
Hereditary Neuropathy v0.201 PDHA1 Sangavi Sivagnanasundram reviewed gene: PDHA1: Rating: RED; Mode of pathogenicity: None; Publications: 34138529; Phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy v0.201 NTRK1 Sangavi Sivagnanasundram reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301726, 11310631; Phenotypes: hereditary sensory and autonomic neuropathy type 4 MONDO:0009746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.201 MFF Zornitza Stark Marked gene: MFF as ready
Hereditary Neuropathy v0.201 MFF Zornitza Stark Gene: mff has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.201 MFF Zornitza Stark Phenotypes for gene: MFF were changed from Leigh-like syndrome, developmental delay, optic atrophy, seizures, sensory-motor neuropathy with SNCV, Leigh syndrome-like MRI brain (T2 high signal of basal ganglia and subthalamic nucleus) to Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MIM# 617086
Hereditary Neuropathy v0.200 MFF Zornitza Stark Publications for gene: MFF were set to
Hereditary Neuropathy v0.199 MFF Zornitza Stark Classified gene: MFF as Amber List (moderate evidence)
Hereditary Neuropathy v0.199 MFF Zornitza Stark Gene: mff has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.198 LYST Zornitza Stark Marked gene: LYST as ready
Hereditary Neuropathy v0.198 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.198 LYST Zornitza Stark Phenotypes for gene: LYST were changed from Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy; Chediak-Higashi syndrome, 214500 to Chediak-Higashi syndrome MIM#214500; MONDO:0008963
Hereditary Neuropathy v0.197 LYST Zornitza Stark Publications for gene: LYST were set to
Hereditary Neuropathy v0.196 KARS Zornitza Stark Marked gene: KARS as ready
Hereditary Neuropathy v0.196 KARS Zornitza Stark Gene: kars has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.196 KARS Zornitza Stark Phenotypes for gene: KARS were changed from HMSN; Charcot Marie Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 to Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641; MONDO:0013338)
Hereditary Neuropathy v0.195 KARS Zornitza Stark Publications for gene: KARS were set to
Hereditary Neuropathy v0.194 KARS Zornitza Stark Classified gene: KARS as Amber List (moderate evidence)
Hereditary Neuropathy v0.194 KARS Zornitza Stark Gene: kars has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.193 HMBS Zornitza Stark Marked gene: HMBS as ready
Hereditary Neuropathy v0.193 HMBS Zornitza Stark Gene: hmbs has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.193 HMBS Zornitza Stark Phenotypes for gene: HMBS were changed from Acute intermittent porphyria; dHMN/dSMA to Porphyria, acute intermittent MIM#176000; MONDO:0008294
Hereditary Neuropathy v0.192 HMBS Zornitza Stark Publications for gene: HMBS were set to
Hereditary Neuropathy v0.191 HMBS Zornitza Stark reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31205461; Phenotypes: Porphyria, acute intermittent MIM#176000, MONDO:0008294; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.191 HADHB Zornitza Stark Marked gene: HADHB as ready
Hereditary Neuropathy v0.191 HADHB Zornitza Stark Gene: hadhb has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.191 HADHB Zornitza Stark Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015; HMSN to Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300
Hereditary Neuropathy v0.190 HADHB Zornitza Stark Publications for gene: HADHB were set to
Hereditary Neuropathy v0.189 HADHB Zornitza Stark reviewed gene: HADHB: Rating: AMBER; Mode of pathogenicity: None; Publications: 37388542; Phenotypes: Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.189 HADHB Zornitza Stark Classified gene: HADHB as Amber List (moderate evidence)
Hereditary Neuropathy v0.189 HADHB Zornitza Stark Gene: hadhb has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.188 HADHA Zornitza Stark Marked gene: HADHA as ready
Hereditary Neuropathy v0.188 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.188 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency to LCHAD deficiency MIM#609016; Mitochondrial trifunctional protein deficiency MIM#609015
Hereditary Neuropathy v0.187 HADHA Zornitza Stark Publications for gene: HADHA were set to
Hereditary Neuropathy v0.186 GSN Zornitza Stark Marked gene: GSN as ready
Hereditary Neuropathy v0.186 GSN Zornitza Stark Gene: gsn has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.186 GSN Zornitza Stark Phenotypes for gene: GSN were changed from Amyloidosis, Finnish type; HMSN to Amyloidosis, Finnish type MIM#105120
Hereditary Neuropathy v0.185 GSN Zornitza Stark Publications for gene: GSN were set to
Hereditary Neuropathy v0.184 GSN Zornitza Stark Mode of inheritance for gene: GSN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary Neuropathy v0.183 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Hereditary Neuropathy v0.183 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.183 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI to Polyglucosan body disease, adult form MIM#263570; Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI
Hereditary Neuropathy v0.182 GBE1 Zornitza Stark Publications for gene: GBE1 were set to
Hereditary Neuropathy v0.181 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Hereditary Neuropathy v0.181 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.181 GBA2 Zornitza Stark Publications for gene: GBA2 were set to
Hereditary Neuropathy v0.180 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Hereditary Neuropathy v0.180 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.180 EXOSC3 Zornitza Stark Classified gene: EXOSC3 as Amber List (moderate evidence)
Hereditary Neuropathy v0.180 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.179 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Hereditary Neuropathy v0.179 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.179 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities to Cockayne syndrome, type A MIM#216400
Hereditary Neuropathy v0.178 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type A MIM#216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.178 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Hereditary Neuropathy v0.178 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.178 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities to Cockayne syndrome, type B MIM#133540
Hereditary Neuropathy v0.177 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to
Hereditary Neuropathy v0.176 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25453614; Phenotypes: Cockayne syndrome, type B MIM#133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.176 GALC Zornitza Stark Marked gene: GALC as ready
Hereditary Neuropathy v0.176 GALC Zornitza Stark Gene: galc has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.176 GALC Zornitza Stark Phenotypes for gene: GALC were changed from Galactosylceramide beta-galactosidase deficiency; HMSN to Krabbe Disease MIM#245200
Hereditary Neuropathy v0.175 GALC Zornitza Stark Publications for gene: GALC were set to
Hereditary Neuropathy v0.174 GALC Zornitza Stark Classified gene: GALC as Amber List (moderate evidence)
Hereditary Neuropathy v0.174 GALC Zornitza Stark Gene: galc has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.173 FAM126A Zornitza Stark Marked gene: FAM126A as ready
Hereditary Neuropathy v0.173 FAM126A Zornitza Stark Added comment: Comment when marking as ready: Peripheral and central involvement reported.
Hereditary Neuropathy v0.173 FAM126A Zornitza Stark Gene: fam126a has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.173 FAM126A Zornitza Stark Classified gene: FAM126A as Amber List (moderate evidence)
Hereditary Neuropathy v0.173 FAM126A Zornitza Stark Gene: fam126a has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.172 FAM126A Zornitza Stark Classified gene: FAM126A as Red List (low evidence)
Hereditary Neuropathy v0.172 FAM126A Zornitza Stark Gene: fam126a has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.171 ZFYVE26 Zornitza Stark Marked gene: ZFYVE26 as ready
Hereditary Neuropathy v0.171 ZFYVE26 Zornitza Stark Gene: zfyve26 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.171 ZFYVE26 Zornitza Stark Phenotypes for gene: ZFYVE26 were changed from HMSN; Spastic paraplegia 15 to Spastic paraplegia 15 MIM#270700
Hereditary Neuropathy v0.170 ZFYVE26 Zornitza Stark Publications for gene: ZFYVE26 were set to
Hereditary Neuropathy v0.169 MFF Sangavi Sivagnanasundram reviewed gene: MFF: Rating: RED; Mode of pathogenicity: None; Publications: 26783368; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MIM# 617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.169 LYST Sangavi Sivagnanasundram reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: 24521565, 15790783, 20301751; Phenotypes: Chediak-Higashi syndrome MIM#214500, MONDO:0008963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.169 KARS Sangavi Sivagnanasundram reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 20920668; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641, MONDO:0013338); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.169 HMBS Sangavi Sivagnanasundram reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301372, 8563760; Phenotypes: Porphyria, acute intermittent MIM#176000, MONDO:0008294; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy v0.169 HADHB Sangavi Sivagnanasundram reviewed gene: HADHB: Rating: RED; Mode of pathogenicity: None; Publications: 36063482, 24664533; Phenotypes: Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.169 HADHA Sangavi Sivagnanasundram reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: None; Publications: 8871579, 23868323, 33744096, 12838198, 36063482; Phenotypes: LCHAD deficiency MIM#609016, Mitochondrial trifunctional protein deficiency MIM#609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.169 GSN Sangavi Sivagnanasundram reviewed gene: GSN: Rating: AMBER; Mode of pathogenicity: None; Publications: 8684801, 228009, 3513049; Phenotypes: Amyloidosis, Finnish type MIM#105120; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary Neuropathy v0.169 GBE1 Sangavi Sivagnanasundram reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23034915, 1763891, 8494336, 20301758; Phenotypes: Polyglucosan body disease, adult form MIM#263570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.169 DNAJC3 Zornitza Stark Marked gene: DNAJC3 as ready
Hereditary Neuropathy v0.169 DNAJC3 Zornitza Stark Gene: dnajc3 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.169 DNAJC3 Zornitza Stark Phenotypes for gene: DNAJC3 were changed from Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus to Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192
Hereditary Neuropathy v0.168 DNAJC3 Zornitza Stark Publications for gene: DNAJC3 were set to 25466870
Hereditary Neuropathy v0.167 DDHD1 Zornitza Stark Marked gene: DDHD1 as ready
Hereditary Neuropathy v0.167 DDHD1 Zornitza Stark Gene: ddhd1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.167 DDHD1 Zornitza Stark Classified gene: DDHD1 as Amber List (moderate evidence)
Hereditary Neuropathy v0.167 DDHD1 Zornitza Stark Gene: ddhd1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.166 GBA2 Sangavi Sivagnanasundram reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682, 23332917, 29524657; Phenotypes: Spastic paraplegia 46 MIM#614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.166 EXOSC3 Sangavi Sivagnanasundram reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25144110, 22544365; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM#614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.166 ERCC6 Sangavi Sivagnanasundram edited their review of gene: ERCC6: Changed rating: RED
Hereditary Neuropathy v0.166 ERCC6 Sangavi Sivagnanasundram changed review comment from: Peripheral neuropathy with nerve conduction study confirmation is a minor criteria for suspected individuals with Cockayne Syndrome.

No reports of neuropathy as a phenotype in a confirmed diagnosis of Cockayne Syndrome.; to: No established gene-disease association

Peripheral neuropathy with nerve conduction study confirmation is a minor criteria for suspected individuals with Cockayne Syndrome.

No reports of neuropathy as a phenotype in a confirmed diagnosis of Cockayne Syndrome.
Hereditary Neuropathy v0.166 ERCC8 Sangavi Sivagnanasundram reviewed gene: ERCC8: Rating: RED; Mode of pathogenicity: None; Publications: 4320535; Phenotypes: Cockayne syndrome, type A MIM#216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.166 ERCC6 Sangavi Sivagnanasundram edited their review of gene: ERCC6: Changed rating: AMBER
Hereditary Neuropathy v0.166 ERCC6 Sangavi Sivagnanasundram reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: None; Publications: 20301516; Phenotypes: Cockayne syndrome, type B MIM#133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.166 GALC Sangavi Sivagnanasundram reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301416, 21070211; Phenotypes: Krabbe Disease MIM#245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.166 FAM126A Sangavi Sivagnanasundram reviewed gene: FAM126A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 5 MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.166 ZFYVE26 Sangavi Sivagnanasundram reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 17661097, 19438933; Phenotypes: Spastic paraplegia 15 MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.166 DNAJC3 Sangavi Sivagnanasundram reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466870, 32738013, 34654017; Phenotypes: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.166 DDHD1 Sangavi Sivagnanasundram reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23176821; Phenotypes: Spastic paraplegia 28, autosomal recessive, MIM# 609340, MONDO:0012256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.166 DARS2 Sangavi Sivagnanasundram reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20506600, 19592391, 33574740; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) (MIM#611105); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.166 CLP1 Sangavi Sivagnanasundram reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809, 24766810; Phenotypes: Pontocerebellar hypoplasia, type 10 (MIM#615803); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.166 ATAD3A Sangavi Sivagnanasundram changed review comment from: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.

Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A

PMID: 27640307
5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy.

Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic.
The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for both LoF and GoF.Therefore the mode of pathogenicity is suggestive of dominant negative.

AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.; to: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.

Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A

PMID: 27640307
5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy.

Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic. The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for both LoF and GoF.Therefore the mode of pathogenicity is suggestive of dominant negative.

AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.
Hereditary Neuropathy v0.166 ATAD3A Sangavi Sivagnanasundram changed review comment from: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.

Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A

PMID: 27640307
5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy.

Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic.
The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for bothe LoF and GoF.
Therefore the mode of pathogenicity is suggestive of dominant negative.

AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.; to: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.

Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A

PMID: 27640307
5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy.

Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic.
The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for both LoF and GoF.Therefore the mode of pathogenicity is suggestive of dominant negative.

AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.
Hereditary Neuropathy v0.166 ATAD3A Sangavi Sivagnanasundram reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27640307; Phenotypes: Harel-Yoon Syndrome (MIM#6173183); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.166 APTX Zornitza Stark Marked gene: APTX as ready
Hereditary Neuropathy v0.166 APTX Zornitza Stark Gene: aptx has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.166 APTX Zornitza Stark Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Hereditary Neuropathies to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MIM#208920)
Hereditary Neuropathy v0.165 APTX Zornitza Stark Publications for gene: APTX were set to
Hereditary Neuropathy v0.164 B4GALNT1 Zornitza Stark Marked gene: B4GALNT1 as ready
Hereditary Neuropathy v0.164 B4GALNT1 Zornitza Stark Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.164 B4GALNT1 Zornitza Stark Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy to Spastic paraplegia 26, autosomal recessive (MIM#609195; MONDO:0012213)
Hereditary Neuropathy v0.163 B4GALNT1 Zornitza Stark Publications for gene: B4GALNT1 were set to
Hereditary Neuropathy v0.162 B4GALNT1 Zornitza Stark Classified gene: B4GALNT1 as Amber List (moderate evidence)
Hereditary Neuropathy v0.162 B4GALNT1 Zornitza Stark Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.161 BAG3 Zornitza Stark Marked gene: BAG3 as ready
Hereditary Neuropathy v0.161 BAG3 Zornitza Stark Gene: bag3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.161 BAG3 Zornitza Stark Phenotypes for gene: BAG3 were changed from Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881; HMSN to Myopathy, myofibrillar, 6 (MIM#612954; MONDO:0013061)
Hereditary Neuropathy v0.160 BAG3 Zornitza Stark Publications for gene: BAG3 were set to
Hereditary Neuropathy v0.159 BAG3 Zornitza Stark Classified gene: BAG3 as Amber List (moderate evidence)
Hereditary Neuropathy v0.159 BAG3 Zornitza Stark Gene: bag3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.158 CNTNAP1 Zornitza Stark Marked gene: CNTNAP1 as ready
Hereditary Neuropathy v0.158 CNTNAP1 Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.158 CNTNAP1 Zornitza Stark Phenotypes for gene: CNTNAP1 were changed from Hypomyelinating neuropathy, congenital, 3, 618186 to Hypomyelinating neuropathy, congenital, 3 (MONDO:0017049; MIM#618186)
Hereditary Neuropathy v0.157 CNTNAP1 Zornitza Stark Publications for gene: CNTNAP1 were set to
Hereditary Neuropathy v0.156 COX10 Zornitza Stark Marked gene: COX10 as ready
Hereditary Neuropathy v0.156 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.156 COX10 Zornitza Stark Phenotypes for gene: COX10 were changed from Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; HMSN to Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046)
Hereditary Neuropathy v0.155 COX10 Zornitza Stark Publications for gene: COX10 were set to
Hereditary Neuropathy v0.154 COX10 Zornitza Stark Classified gene: COX10 as Amber List (moderate evidence)
Hereditary Neuropathy v0.154 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.153 CTDP1 Zornitza Stark Marked gene: CTDP1 as ready
Hereditary Neuropathy v0.153 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.153 CTDP1 Zornitza Stark Phenotypes for gene: CTDP1 were changed from Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN); HMSN to Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168)
Hereditary Neuropathy v0.152 CTDP1 Zornitza Stark Publications for gene: CTDP1 were set to
Hereditary Neuropathy v0.151 CTDP1 Zornitza Stark Tag deep intronic tag was added to gene: CTDP1.
Tag founder tag was added to gene: CTDP1.
Hereditary Neuropathy v0.151 CTDP1 Zornitza Stark reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.151 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Hereditary Neuropathy v0.151 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.151 CYP2U1 Zornitza Stark Phenotypes for gene: CYP2U1 were changed from Onset first decade, spastic paraplegia, rarely dystonia and cognitive impairment, subclinical sensory-motor axonal neuropathy to Spastic paraplegia 56, autosomal recessive, MIM#615030
Hereditary Neuropathy v0.150 CYP2U1 Zornitza Stark Publications for gene: CYP2U1 were set to
Hereditary Neuropathy v0.149 CYP2U1 Sangavi Sivagnanasundram reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.149 CTDP1 Sangavi Sivagnanasundram reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301787; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.149 COX10 Sangavi Sivagnanasundram reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 10767350; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.149 CNTNAP1 Sangavi Sivagnanasundram reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29511323, 27881385; Phenotypes: Hypomyelinating neuropathy, congenital, 3 (MONDO:0017049, MIM#618186); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.149 BAG3 Sangavi Sivagnanasundram reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: None; Publications: 19085932; Phenotypes: Myopathy, myofibrillar, 6 (MIM#612954, MONDO:0013061); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.149 B4GALNT1 Sangavi Sivagnanasundram edited their review of gene: B4GALNT1: Changed rating: AMBER
Hereditary Neuropathy v0.149 B4GALNT1 Sangavi Sivagnanasundram changed review comment from: Variable age of onset (typically during juvenile aged). Mutations in B4GALNT1 are known to be a rarer and more complicated form of SPG compared to other genes. (PMID: 20301682)

PMID: 23746551
5 unrelated families with gait abnormalities due to lower limb spasticity, hyperreflexia, extensor plantar responses, muscle weakness and atrophy, and mild to moderate intellectual disability.
All affected individuals in the families had homozygous mutations in B4GALNT1; to: Neuropathy is not a prominent feature in individuals

Variable age of onset (typically during juvenile aged). Mutations in B4GALNT1 are known to be a rarer and more complicated form of SPG compared to other genes. (PMID: 20301682)

PMID: 23746551
5 unrelated families with gait abnormalities due to lower limb spasticity, hyperreflexia, extensor plantar responses, muscle weakness and atrophy, and mild to moderate intellectual disability.
All affected individuals in the families had homozygous mutations in B4GALNT1
Hereditary Neuropathy v0.149 B4GALNT1 Sangavi Sivagnanasundram edited their review of gene: B4GALNT1: Changed rating: RED
Hereditary Neuropathy v0.149 B4GALNT1 Sangavi Sivagnanasundram reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682, 23746551; Phenotypes: Spastic paraplegia 26, autosomal recessive (MIM#609195, MONDO:0012213); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.149 APTX Sangavi Sivagnanasundram reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MIM#208920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.149 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Hereditary Neuropathy v0.149 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.149 ABCD1 Zornitza Stark Phenotypes for gene: ABCD1 were changed from Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance to Adrenomyeloneuropathy, adult (MIM#300100); Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance
Hereditary Neuropathy v0.148 ABCD1 Zornitza Stark Publications for gene: ABCD1 were set to
Hereditary Neuropathy v0.147 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Hereditary Neuropathy v0.147 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.147 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia to Spastic ataxia 5, autosomal recessive, MIM# 614487, MONDO:0013776; Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia
Hereditary Neuropathy v0.146 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to
Hereditary Neuropathy v0.145 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.144 AFG3L2 Zornitza Stark reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive, MIM# 614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.144 AMACR Zornitza Stark Marked gene: AMACR as ready
Hereditary Neuropathy v0.144 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.144 AMACR Zornitza Stark Phenotypes for gene: AMACR were changed from Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids to Alpha-methylacyl-CoA racemase deficiency (MIM#614307); Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids
Hereditary Neuropathy v0.143 AMACR Zornitza Stark Publications for gene: AMACR were set to
Hereditary Neuropathy v0.142 AMACR Sangavi Sivagnanasundram reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: None; Publications: 36108118, 10655068, 20821052, 18032455; Phenotypes: Alpha-methylacyl-CoA racemase deficiency (MIM#614307); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.142 AFG3L2 Sangavi Sivagnanasundram reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22022284, 25401298; Phenotypes: Spastic Ataxia 5 (MIM#614487, MONDO:0013776); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.142 ABCD1 Sangavi Sivagnanasundram reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301491; Phenotypes: Adrenomyeloneuropathy, adult (MIM#300100); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy v0.142 COQ7 Zornitza Stark Publications for gene: COQ7 were set to PMID: 36454683
Hereditary Neuropathy v0.141 COQ7 Zornitza Stark Classified gene: COQ7 as Green List (high evidence)
Hereditary Neuropathy v0.141 COQ7 Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.140 COQ7 Chern Lim reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36758993, 36759155; Phenotypes: Distal hereditary motor neuropathy (MONDO#0018894), COQ7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary Neuropathy v0.140 COQ7 Zornitza Stark Marked gene: COQ7 as ready
Hereditary Neuropathy v0.140 COQ7 Zornitza Stark Gene: coq7 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.140 COQ7 Elena Savva Classified gene: COQ7 as Amber List (moderate evidence)
Hereditary Neuropathy v0.140 COQ7 Elena Savva Gene: coq7 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.139 COQ7 Elena Savva gene: COQ7 was added
gene: COQ7 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to PMID: 36454683
Phenotypes for gene: COQ7 were set to Distal hereditary motor neuropathy, COQ7-related (MONDO#0018894)
Review for gene: COQ7 was set to AMBER
Added comment: PMID: 36454683 - 1 family (3 sibs) with a homozygous start-loss. Functional studies showed 85% loss of protein of the main isoform 1 (NM_016138) in patient fibroblasts and accumulation of protein substrate. Patients had a motor neuropathy
Sources: Literature
Hereditary Neuropathy v0.138 Zornitza Stark HPO terms changed from to Peripheral neuropathy, HP:0009830
List of related panels changed from to Peripheral neuropathy; HP:0009830
Hereditary Neuropathy v0.137 EMILIN1 Karina Sandoval changed review comment from: Bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, and transient osteopenia

4 families - Variants segregated in the all families, carriers
Fam 1. 2 affected, homozygous c.831dup consanguineous
Fam 2. 2 affected homozygous c.151del consanguineous
Fam 3. 1 affected chet
Fam 4. 1 affected homozygous c.1606C>T

Mouse models
All affected individuals presented with generalized arterial tortuosity and fractures; to: Bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, and transient osteopenia

4 families - Variants segregated in the all families, carriers
Fam 1. 2 affected, homozygous c.831dup consanguineous
Fam 2. 2 affected homozygous c.151del consanguineous
Fam 3. 1 affected chet
Fam 4. 1 affected homozygous c.1606C>T

Mouse models
All affected individuals presented with generalized arterial tortuosity and fractures
Hereditary Neuropathy v0.137 EMILIN1 Karina Sandoval reviewed gene: EMILIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36351433; Phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.137 EMILIN1 Zornitza Stark Phenotypes for gene: EMILIN1 were changed from Peripheral neuropathy; aortic aneurysm to Neuronopathy, distal hereditary motor, type X, MIM# 620080; Peripheral neuropathy; aortic aneurysm
Hereditary Neuropathy v0.136 EMILIN1 Zornitza Stark edited their review of gene: EMILIN1: Changed phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm
Hereditary Neuropathy v0.136 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Hereditary Neuropathy v0.136 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Intermediate CMT to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068
Hereditary Neuropathy v0.135 SLC12A6 Zornitza Stark edited their review of gene: SLC12A6: Changed phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MM# 218000, Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068
Hereditary Neuropathy v0.135 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Hereditary Neuropathy v0.135 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Hereditary Neuropathy v0.135 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Hereditary Neuropathy v0.135 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Hereditary Neuropathy v0.135 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Hereditary Neuropathy v0.135 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy to Metachromatic leukodystrophy, MIM# 250100; Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
Hereditary Neuropathy v0.134 ARSA Zornitza Stark reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.134 ARSA Zornitza Stark Marked gene: ARSA as ready
Hereditary Neuropathy v0.134 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.134 AGXT Zornitza Stark Tag clinical trial tag was added to gene: AGXT.
Hereditary Neuropathy v0.134 AGXT Zornitza Stark Tag treatable tag was added to gene: AGXT.
Hereditary Neuropathy v0.134 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Hereditary Neuropathy v0.134 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.134 UCHL1 Zornitza Stark Classified gene: UCHL1 as Green List (high evidence)
Hereditary Neuropathy v0.134 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.133 UCHL1 Zornitza Stark gene: UCHL1 was added
gene: UCHL1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: UCHL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UCHL1 were set to 35986737
Phenotypes for gene: UCHL1 were set to Neurodegenerative disease, MONDO:0005559, UCHL1-related
Review for gene: UCHL1 was set to GREEN
Added comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17).
Sources: Literature
Hereditary Neuropathy v0.132 MYH14 Zornitza Stark Marked gene: MYH14 as ready
Hereditary Neuropathy v0.132 MYH14 Zornitza Stark Gene: myh14 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.132 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; HMSN to Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369
Hereditary Neuropathy v0.131 MYH14 Zornitza Stark Publications for gene: MYH14 were set to
Hereditary Neuropathy v0.130 MYH14 Zornitza Stark reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.130 MYH14 Elena Savva edited their review of gene: MYH14: Added comment: PMID: 21480433 - 1 large Korean fam with peripheral neuropathy, myopathy, hoarseness, and hearing loss. Missense variant (p.R941L) found to segregate in all affecteds, but not all presented with hearing loss.

PMID: 35274842 - same authors as PMID: 21480433, report a second Korean family with a similar presentation to the first and the missense p.R941L.
- Reviews literature reporting an additional 2 families (American, Canadian) with this same p.R941L variant, who presented with distal HMN and hearing loss or CMT with hearing loss (PMID:31231018;27875632). These multigenerational families were Caucasian or not described, with no de novo evidence shown. Authors speculate recurrence due to the broad geographical location where families have been described.


Single recurring missense appears to be responsible for this phenotype; Changed rating: GREEN; Changed publications: PMID: 21480433, 35274842, 31231018, 27875632
Hereditary Neuropathy v0.130 MYH14 Elena Savva reviewed gene: MYH14: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21480433, 35274842; Phenotypes: ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy v0.130 RFC1 Zornitza Stark Mode of pathogenicity for gene: RFC1 was changed from None to Other
Hereditary Neuropathy v0.129 RFC1 Zornitza Stark Classified gene: RFC1 as Amber List (moderate evidence)
Hereditary Neuropathy v0.129 RFC1 Zornitza Stark Gene: rfc1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.128 RFC1 Ain Roesley reviewed gene: RFC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35883251; Phenotypes: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary Neuropathy v0.128 SLC5A6 Zornitza Stark Phenotypes for gene: SLC5A6 were changed from Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 to Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903
Hereditary Neuropathy v0.127 SLC5A6 Zornitza Stark edited their review of gene: SLC5A6: Changed phenotypes: Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903
Hereditary Neuropathy v0.127 GAN Zornitza Stark Marked gene: GAN as ready
Hereditary Neuropathy v0.127 GAN Zornitza Stark Gene: gan has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.127 GAN Zornitza Stark Phenotypes for gene: GAN were changed from HMSN; Giant axonal neuropathy-1 to Giant axonal neuropathy-1, MIM# 256850
Hereditary Neuropathy v0.126 GAN Zornitza Stark Publications for gene: GAN were set to
Hereditary Neuropathy v0.125 GAN Chirag Patel reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11062483; Phenotypes: Giant axonal neuropathy-1, MIM# 256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.125 ETFDH Bryony Thompson Marked gene: ETFDH as ready
Hereditary Neuropathy v0.125 ETFDH Bryony Thompson Gene: etfdh has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.125 ETFDH Bryony Thompson Classified gene: ETFDH as Green List (high evidence)
Hereditary Neuropathy v0.125 ETFDH Bryony Thompson Gene: etfdh has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.124 ETFDH Bryony Thompson gene: ETFDH was added
gene: ETFDH was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 32608139; 35309592; 26821934
Phenotypes for gene: ETFDH were set to Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; sensory neuropathy
Review for gene: ETFDH was set to GREEN
gene: ETFDH was marked as current diagnostic
Added comment: Sensory neuropathy can be a feature of the condition. >10 cases with biallelic variants has been reported with sensory neuropathy confirmed with nerve conduction studies.
Sources: Literature
Hereditary Neuropathy v0.123 TDP1 Zornitza Stark Tag founder tag was added to gene: TDP1.
Hereditary Neuropathy v0.123 TDP1 Zornitza Stark Marked gene: TDP1 as ready
Hereditary Neuropathy v0.123 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.123 TDP1 Zornitza Stark Phenotypes for gene: TDP1 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1; HMSN to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Hereditary Neuropathy v0.122 TDP1 Zornitza Stark Publications for gene: TDP1 were set to 31182267
Hereditary Neuropathy v0.121 TDP1 Zornitza Stark Classified gene: TDP1 as Amber List (moderate evidence)
Hereditary Neuropathy v0.121 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.120 TDP1 Zornitza Stark reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31182267, 12244316; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.120 POLR3B Zornitza Stark Phenotypes for gene: POLR3B were changed from Ataxia, spasticity, and demyelinating neuropathy to Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742
Hereditary Neuropathy v0.119 POLR3B Zornitza Stark edited their review of gene: POLR3B: Changed rating: GREEN; Changed phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.119 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Hereditary Neuropathy v0.119 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.119 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Hereditary Neuropathy v0.119 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.118 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 35013551
Phenotypes for gene: SLC5A6 were set to Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Review for gene: SLC5A6 was set to GREEN
Added comment: Multi-system potentially treatable disorder.

Five individuals from three families reported with motor neuropathies.
Sources: Literature
Hereditary Neuropathy v0.117 NIID Bryony Thompson Marked STR: NIID as ready
Hereditary Neuropathy v0.117 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.117 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Hereditary Neuropathy v0.117 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.116 NIID Bryony Thompson STR: NIID was added
STR: NIID was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668
Phenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866
Review for STR: NIID was set to GREEN
STR: NIID was marked as clinically relevant
Added comment: NM_001364012.2:c.-164GGC[X]
Expanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2.
Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease.
Normal repeat range: 4-40, 1 control had 61 repeats and may have been a presymptomatic carrier.
Intermediate range: 41-60 identified in Parkinson's disease
Pathogenic repeat range: >=60-520
Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals.
Sources: Literature
Hereditary Neuropathy v0.115 Bryony Thompson removed STR:NIID from the panel
Hereditary Neuropathy v0.114 NIID Bryony Thompson Marked STR: NIID as ready
Hereditary Neuropathy v0.114 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.114 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Hereditary Neuropathy v0.114 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.113 NIID Bryony Thompson STR: NIID was added
STR: NIID was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102
Phenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866
Review for STR: NIID was set to GREEN
STR: NIID was marked as clinically relevant
Added comment: NM_001364012.2:c.-164GGC[(66_517)] Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 7-60 Pathogenic repeat range: >=61-500 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals.
Sources: Literature
Hereditary Neuropathy v0.112 PSMC3 Zornitza Stark Marked gene: PSMC3 as ready
Hereditary Neuropathy v0.112 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.112 PSMC3 Zornitza Stark Classified gene: PSMC3 as Amber List (moderate evidence)
Hereditary Neuropathy v0.112 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.111 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC3 were set to 32500975
Phenotypes for gene: PSMC3 were set to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature
Hereditary Neuropathy v0.110 SBF1 Zornitza Stark Marked gene: SBF1 as ready
Hereditary Neuropathy v0.110 SBF1 Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.110 SBF1 Zornitza Stark Classified gene: SBF1 as Green List (high evidence)
Hereditary Neuropathy v0.110 SBF1 Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.109 SBF1 Zornitza Stark gene: SBF1 was added
gene: SBF1 was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SBF1 were set to 23749797; 23749797; 32444983; 30039846; 28005197
Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3 , MIM#615284; MONDO:0014117
Review for gene: SBF1 was set to GREEN
Added comment: At least 5 unrelated families reported. Some with isolated neuropathy and others with additional neurological and syndromic features, including DD/ID and congenital anomalies.
Sources: Expert Review
Hereditary Neuropathy v0.108 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Hereditary Neuropathy v0.107 SLC25A46 Zornitza Stark changed review comment from: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy.
Sources: Expert list; to: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.
Sources: Expert list
Hereditary Neuropathy v0.107 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303
Hereditary Neuropathy v0.107 PDXK Bryony Thompson Classified gene: PDXK as Green List (high evidence)
Hereditary Neuropathy v0.107 PDXK Bryony Thompson Added comment: Comment on list classification: Additional family identified
Hereditary Neuropathy v0.107 PDXK Bryony Thompson Gene: pdxk has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.106 PDXK Bryony Thompson Publications for gene: PDXK were set to 31187503
Hereditary Neuropathy v0.104 POLR3B Zornitza Stark Marked gene: POLR3B as ready
Hereditary Neuropathy v0.104 POLR3B Zornitza Stark Added comment: Comment when marking as ready: Note bi-allelic variants in this gene cause a leukodystrophy.
Hereditary Neuropathy v0.104 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.104 POLR3B Zornitza Stark Phenotypes for gene: POLR3B were changed from Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 to Ataxia, spasticity, and demyelinating neuropathy
Hereditary Neuropathy v0.103 POLR3B Zornitza Stark Mode of inheritance for gene: POLR3B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.102 POLR3B Zornitza Stark Classified gene: POLR3B as Green List (high evidence)
Hereditary Neuropathy v0.102 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.101 POLR3B Elena Savva gene: POLR3B was added
gene: POLR3B was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: POLR3B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLR3B were set to PMID: 33417887
Phenotypes for gene: POLR3B were set to Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381
Review for gene: POLR3B was set to GREEN
Added comment: PMID: 33417887: Six unrelated individuals with de novo missense variants.
Patients had ataxia, spasticity, variable intellectual disability and epilepsy, and predominantly demyelinating sensory motor peripheral neuropathy.
Protein modeling and proteomic analysis shows variants caused aberrant association of individual enzyme subunits rather than affecting overall enzyme assembly or stability.
Sources: Literature
Hereditary Neuropathy v0.101 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Hereditary Neuropathy v0.101 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.101 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Hereditary Neuropathy v0.101 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.100 MORC2 Zornitza Stark gene: MORC2 was added
gene: MORC2 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 32693025; 26497905; 26659848
Phenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
Review for gene: MORC2 was set to GREEN
Added comment: Reported in 5 families with isolated CMT. Recent cohort of 20 individuals with more complex neurodevelopmental phenotype comprising DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Features suggestive of neuropathy (weakness, hyporeflexia, abnormal EMG/NCS) were frequent but not the predominant complaint. EMG/NCS abnormalities were abnormal in 6 out of 10 subjects investigated in this cohort. Other findings included brain MRI abnormalities (12/18 - in 5/18 Leigh-like lesions), hearing loss (11/19) and pigmentary retinopathy in few (5).
Sources: Literature
Hereditary Neuropathy v0.99 NUDT2 Zornitza Stark Marked gene: NUDT2 as ready
Hereditary Neuropathy v0.99 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.99 NUDT2 Zornitza Stark Classified gene: NUDT2 as Green List (high evidence)
Hereditary Neuropathy v0.99 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.98 NUDT2 Zornitza Stark gene: NUDT2 was added
gene: NUDT2 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to 33058507; 27431290; 30059600; 33058507
Phenotypes for gene: NUDT2 were set to Muscular hypotonia; Global developmental delay; Intellectual disability; Polyneuropathy
Review for gene: NUDT2 was set to GREEN
Added comment: Eight families reported altogether, though some have same founder variant. Four had polyneuropathy as part of the phenotype.
Sources: Literature
Hereditary Neuropathy v0.97 SETX Zornitza Stark Marked gene: SETX as ready
Hereditary Neuropathy v0.97 SETX Zornitza Stark Gene: setx has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.97 SETX Zornitza Stark Phenotypes for gene: SETX were changed from dHMN/dSMA; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 to dHMN/dSMA; Amyotrophic lateral sclerosis 4, juvenile MIM# 602433; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary Neuropathy v0.96 SETX Zornitza Stark Publications for gene: SETX were set to
Hereditary Neuropathy v0.95 SETX Zornitza Stark Mode of inheritance for gene: SETX was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.94 SETX Zornitza Stark reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile MIM# 602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM# 606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.94 SETX Elena Savva reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23129421, 16644229, 30052327; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile MIM# 602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM# 606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.94 CANVAS_ACAGG Bryony Thompson Marked STR: CANVAS_ACAGG as ready
Hereditary Neuropathy v0.94 CANVAS_ACAGG Bryony Thompson Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.94 CANVAS_ACAGG Bryony Thompson Classified STR: CANVAS_ACAGG as Amber List (moderate evidence)
Hereditary Neuropathy v0.94 CANVAS_ACAGG Bryony Thompson Added comment: Comment on list classification: Used the pathogenic cut-off of 400 repeats from original CANVAS repeat
Hereditary Neuropathy v0.94 CANVAS_ACAGG Bryony Thompson Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.93 CANVAS_ACAGG Bryony Thompson STR: CANVAS_ACAGG was added
STR: CANVAS_ACAGG was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for STR: CANVAS_ACAGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CANVAS_ACAGG were set to 33103729
Phenotypes for STR: CANVAS_ACAGG were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; fasciculations; elevated serum creatine kinase levels; denervation
Review for STR: CANVAS_ACAGG was set to AMBER
Added comment: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified homozygous in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats.
Sources: Literature
Hereditary Neuropathy v0.92 NEMF Zornitza Stark Phenotypes for gene: NEMF were changed from Intellectual disability; neuropathy to Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099; Intellectual disability; neuropathy
Hereditary Neuropathy v0.91 NEMF Zornitza Stark edited their review of gene: NEMF: Changed phenotypes: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099, Intellectual disability, neuropathy
Hereditary Neuropathy v0.91 NARS Zornitza Stark Phenotypes for gene: NARS were changed from Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Hereditary Neuropathy v0.90 NARS Zornitza Stark edited their review of gene: NARS: Changed phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092, Abnormal muscle tone, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Ataxia, Abnormality of the face, Demyelinating peripheral neuropathy
Hereditary Neuropathy v0.90 RFC1 Bryony Thompson Classified gene: RFC1 as No list
Hereditary Neuropathy v0.90 RFC1 Bryony Thompson Added comment: Comment on list classification: STR is the only reported cause of condition. It is present under the STRs in this panel.
Hereditary Neuropathy v0.90 RFC1 Bryony Thompson Gene: rfc1 has been removed from the panel.
Hereditary Neuropathy v0.89 CANVAS Bryony Thompson Classified STR: CANVAS as Green List (high evidence)
Hereditary Neuropathy v0.89 CANVAS Bryony Thompson Str: canvas has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.88 CANVAS Bryony Thompson STR: CANVAS was added
STR: CANVAS was added to Hereditary Neuropathy - complex. Sources: Expert list
STR tags were added to STR: CANVAS.
Mode of inheritance for STR: CANVAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CANVAS were set to 30926972
Phenotypes for STR: CANVAS were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Review for STR: CANVAS was set to GREEN
STR: CANVAS was marked as clinically relevant
STR: CANVAS was marked as current diagnostic
Added comment: Simple tandem repeat (AAAAG)11 replaced with (AAGGG)n in intron 2 of RFC1. Loss of function is not the mechanism of disease.
Sources: Expert list
Hereditary Neuropathy v0.87 NEMF Zornitza Stark Mode of inheritance for gene: NEMF was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.86 NEMF Zornitza Stark changed review comment from: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration.
Sources: Literature; to: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration.

Single individual with de novo variant reported, postulated dominant negative effect. Evidence for mono allelic variants causing disease is limited.
Sources: Literature
Hereditary Neuropathy v0.86 NEMF Zornitza Stark edited their review of gene: NEMF: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.86 TRIP4 Zornitza Stark Marked gene: TRIP4 as ready
Hereditary Neuropathy v0.86 TRIP4 Zornitza Stark Gene: trip4 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.86 TRIP4 Zornitza Stark Phenotypes for gene: TRIP4 were changed from Spinal muscular atrophy with congenital bone fractures 1 to Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866
Hereditary Neuropathy v0.85 TRIP4 Zornitza Stark Publications for gene: TRIP4 were set to
Hereditary Neuropathy v0.84 TRIP4 Zornitza Stark reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924529; Phenotypes: Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.84 EXOSC9 Zornitza Stark Marked gene: EXOSC9 as ready
Hereditary Neuropathy v0.84 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.84 EXOSC9 Zornitza Stark Classified gene: EXOSC9 as Green List (high evidence)
Hereditary Neuropathy v0.84 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.83 EXOSC9 Zornitza Stark gene: EXOSC9 was added
gene: EXOSC9 was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC9 were set to 30690203; 29727687
Phenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D, MIM# 618065
Review for gene: EXOSC9 was set to GREEN
Added comment: Six unrelated families reported, p.Leu14Pro variant is recurrent, disorder combines cerebellar atrophy and spinal motoneuronopathy.
Sources: Expert Review
Hereditary Neuropathy v0.82 EXOSC8 Zornitza Stark Phenotypes for gene: EXOSC8 were changed from dHMN/dSMA; Pontocerebellar hypoplasia, type 1c to dHMN/dSMA; Pontocerebellar hypoplasia, type 1c, MIM# 616081
Hereditary Neuropathy v0.81 EXOSC8 Zornitza Stark Publications for gene: EXOSC8 were set to
Hereditary Neuropathy v0.80 EXOSC8 Zornitza Stark Classified gene: EXOSC8 as Green List (high evidence)
Hereditary Neuropathy v0.80 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.79 EXOSC8 Zornitza Stark Deleted their comment
Hereditary Neuropathy v0.79 EXOSC8 Zornitza Stark commented on gene: EXOSC8: Panel is both paediatric and adult, condition has an SMA component in addition to the PCH.
Hereditary Neuropathy v0.79 EXOSC8 Zornitza Stark reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM# 616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.79 NEMF Zornitza Stark Marked gene: NEMF as ready
Hereditary Neuropathy v0.79 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.79 NEMF Zornitza Stark Classified gene: NEMF as Green List (high evidence)
Hereditary Neuropathy v0.79 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.78 NEMF Zornitza Stark gene: NEMF was added
gene: NEMF was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: NEMF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEMF were set to 32934225
Phenotypes for gene: NEMF were set to Intellectual disability; neuropathy
Review for gene: NEMF was set to GREEN
Added comment: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration.
Sources: Literature
Hereditary Neuropathy v0.77 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Hereditary Neuropathy v0.77 ADPRHL2 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.
Hereditary Neuropathy v0.77 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.77 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Hereditary Neuropathy v0.77 NARS Zornitza Stark Marked gene: NARS as ready
Hereditary Neuropathy v0.77 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.77 NARS Zornitza Stark Classified gene: NARS as Green List (high evidence)
Hereditary Neuropathy v0.77 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.76 NARS Zornitza Stark gene: NARS was added
gene: NARS was added to Hereditary Neuropathy - complex. Sources: Literature
new gene name tags were added to gene: NARS.
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225
Phenotypes for gene: NARS were set to Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Review for gene: NARS was set to GREEN
Added comment: [Please note that HGNC Approved Gene Symbol for this gene is NARS1] Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families. Similar features were reported for AR/AD occurrences of the disorder and included microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features. NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported. Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all]. The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).
Sources: Literature
Hereditary Neuropathy v0.75 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Hereditary Neuropathy v0.75 ACOX1 Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.75 ACOX1 Zornitza Stark Classified gene: ACOX1 as Green List (high evidence)
Hereditary Neuropathy v0.75 ACOX1 Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.74 ACOX1 Zornitza Stark changed review comment from: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss.
Sources: Expert list; to: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Note that bi-allelic variants in this gene cause a peroxisomal disorder.
Sources: Expert list
Hereditary Neuropathy v0.74 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACOX1 were set to 32169171
Phenotypes for gene: ACOX1 were set to Mitchell syndrome, MIM# 618960
Review for gene: ACOX1 was set to GREEN
Added comment: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss.
Sources: Expert list
Hereditary Neuropathy v0.73 STUB1 Zornitza Stark Classified gene: STUB1 as Green List (high evidence)
Hereditary Neuropathy v0.73 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.72 STUB1 Zornitza Stark gene: STUB1 was added
gene: STUB1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STUB1 were set to 32342324; 32337344
Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768
Review for gene: STUB1 was set to GREEN
Added comment: PMID: 32342324 - Gene causes both AD and AR spinocerebellar ataxia. Reviews 17 families (31 patients, adolescent/childhood onset), all patients developed progressive cerebellar ataxia, associated with dysmetria and dysarthria, corticospinal signs (19/31), myoclonus (7/31) and generalized tonic– clonic seizures (4/31), peripheral nervous system involvement (4/12). PMID: 32337344 - 1 large family with adult-onset gait disturbance and cognitive decline. Neuropathy is a feature of the more severe, bi-allelic disorder.
Sources: Literature
Hereditary Neuropathy v0.71 SGPL1 Zornitza Stark Marked gene: SGPL1 as ready
Hereditary Neuropathy v0.71 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.71 SGPL1 Zornitza Stark Classified gene: SGPL1 as Amber List (moderate evidence)
Hereditary Neuropathy v0.71 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.70 Zornitza Stark removed gene:ATP6AP2 from the panel
Hereditary Neuropathy v0.69 SGPL1 Crystle Lee gene: SGPL1 was added
gene: SGPL1 was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 28077491; 28165339; 30274713; 28165343
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14 (MIM#617575)
Review for gene: SGPL1 was set to AMBER
Added comment: Peripheral neuropathy has been reported in patients however does not appear to be consistent feature.

PMID: 28077491: Reported as a cause of CMT in 2 sibs

PMID: 28165339: Reported 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects. Peripheral neuropathy (motor and sensory) reported in one family.

PMID: 30274713: Review article.
Sources: Expert Review
Hereditary Neuropathy v0.69 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Hereditary Neuropathy v0.69 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.69 ADPRHL2 Zornitza Stark Classified gene: ADPRHL2 as Green List (high evidence)
Hereditary Neuropathy v0.69 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.68 FDX2 Zornitza Stark Marked gene: FDX2 as ready
Hereditary Neuropathy v0.68 FDX2 Zornitza Stark Gene: fdx2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.68 FDX2 Zornitza Stark Classified gene: FDX2 as Amber List (moderate evidence)
Hereditary Neuropathy v0.68 FDX2 Zornitza Stark Gene: fdx2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.67 FDX2 Crystle Lee gene: FDX2 was added
gene: FDX2 was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDX2 were set to 30010796; 24281368; 28803783
Phenotypes for gene: FDX2 were set to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MIM#251900)
Review for gene: FDX2 was set to AMBER
Added comment: Gene previously known as FDX1L. Limited evidence (1 family) suporting neuropathy being a feature of the associated condition

PMID: 30010796: Reported same variant in 2 apparently unrelated Brazilian families. Axonal
sensori-motor polyneuropathy reported in 4 out of the 6 patients. OMIM notes that peripheral neuropathy has onset in the second decade.
Sources: Expert Review
Hereditary Neuropathy v0.67 ADPRHL2 Crystle Lee gene: ADPRHL2 was added
gene: ADPRHL2 was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADPRHL2 were set to 30100084; 30401461
Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170)
Review for gene: ADPRHL2 was set to GREEN
Added comment: Peripheral (sensori-)motor axonal neuropathy is a feature of this progressive neurodegenerative disorder. >5 families have been reported.
Sources: Expert Review
Hereditary Neuropathy v0.67 ATP6AP2 Elena Savva gene: ATP6AP2 was added
gene: ATP6AP2 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP2 were set to PMID: 30985297; 23595882
Phenotypes for gene: ATP6AP2 were set to ?Parkinsonism with spasticity, X-linked 300911
Review for gene: ATP6AP2 was set to GREEN
Added comment: PMID: 30985297 - 1 de novo male patient with postnatal neurodegeneration, seizures, mild face dysmorphism. Sequential MRI revealed decreasing gray and white matter volumes. Patient has a splice variant proven to cause alternative transcript expression. Supported by null mouse model.

PMID: 23595882 - 2 patients (1 family) with a synonymous variant proven to affect splicing. Patients have X-linked parkinsonian syndrome

Summary: 2 unrelated patients + animal models
Sources: Expert list
Hereditary Neuropathy v0.67 EMILIN1 Zornitza Stark Marked gene: EMILIN1 as ready
Hereditary Neuropathy v0.67 EMILIN1 Zornitza Stark Gene: emilin1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.67 EMILIN1 Zornitza Stark Classified gene: EMILIN1 as Amber List (moderate evidence)
Hereditary Neuropathy v0.67 EMILIN1 Zornitza Stark Gene: emilin1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.66 EMILIN1 Zornitza Stark gene: EMILIN1 was added
gene: EMILIN1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: EMILIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EMILIN1 were set to 31978608; 26462740
Phenotypes for gene: EMILIN1 were set to Peripheral neuropathy; aortic aneurysm
Review for gene: EMILIN1 was set to AMBER
Added comment: Missense mutations identified in two families. First family, proband presented with ascending and descending aortic aneurysms, bilateral lower leg and foot sensorimotor peripheral neuropathy, arthropathy, and increased skin elasticity. Variant segregated with disease in the affected proband, mother, and son. Second family, father and three affected children showed amyotrophy and weakness of the distal lower limbs, dating back to early childhood. Some functional studies performed in patient fibroblasts and zebrafish, however these were not conclusive as the two missense mutations are at different locations within the protein.
Sources: Literature
Hereditary Neuropathy v0.65 MCM3AP Zornitza Stark Marked gene: MCM3AP as ready
Hereditary Neuropathy v0.65 MCM3AP Zornitza Stark Gene: mcm3ap has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.65 MCM3AP Zornitza Stark Publications for gene: MCM3AP were set to
Hereditary Neuropathy v0.64 MCM3AP Zornitza Stark edited their review of gene: MCM3AP: Added comment: PMID: 32202298 - Woldegebriel et al 2020 - report a further two families, one in the Netherlands and one in Estonia, with probands with compound heterozygous variants in MCM3AP and a peripheral neuropathy with or without impaired intellectual development (MIM 618124) phenotype. The child from the Netherlands presented with severe hypotonia and intellectual disability. The two siblings from the Estonian family had severe generalized epilepsy and mild spastic diplegia. Functional studies using skin fibroblasts from these and other affected patients showed that disease variants result in depletion of GANP (encoded by MCM3AP) except when they alter critical residues in the Sac3 mRNA binding domain. GANP depletion was associated with more severe phenotypes compared with the Sac3 variants.; Changed publications: 24123876, 28633435, 28969388, 29982295, 32202298
Hereditary Neuropathy v0.64 KLC2 Bryony Thompson edited their review of gene: KLC2: Changed rating: GREEN
Hereditary Neuropathy v0.64 DCAF8 Bryony Thompson Classified gene: DCAF8 as Amber List (moderate evidence)
Hereditary Neuropathy v0.64 DCAF8 Bryony Thompson Gene: dcaf8 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.63 DCAF8 Bryony Thompson edited their review of gene: DCAF8: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.63 DCAF8 Bryony Thompson reviewed gene: DCAF8: Rating: AMBER; Mode of pathogenicity: None; Publications: 24500646; Phenotypes: Giant axonal neuropathy 2, autosomal dominant MIM#610100; Mode of inheritance: None
Hereditary Neuropathy v0.63 ARL6IP1 Bryony Thompson Marked gene: ARL6IP1 as ready
Hereditary Neuropathy v0.63 ARL6IP1 Bryony Thompson Gene: arl6ip1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.63 ARL6IP1 Bryony Thompson reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 31272422, 30980493, 28471035; Phenotypes: Spastic paraplegia 61, autosomal recessive MIM#615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.63 SLC12A6 Zornitza Stark Marked gene: SLC12A6 as ready
Hereditary Neuropathy v0.63 SLC12A6 Zornitza Stark Gene: slc12a6 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.63 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; HMSN to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Intermediate CMT
Hereditary Neuropathy v0.62 SLC12A6 Zornitza Stark Publications for gene: SLC12A6 were set to
Hereditary Neuropathy v0.61 SLC12A6 Zornitza Stark Mode of inheritance for gene: SLC12A6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.60 SLC12A6 Zornitza Stark reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MM# 218000, Intermediate CMT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.60 PDXK Zornitza Stark Marked gene: PDXK as ready
Hereditary Neuropathy v0.60 PDXK Zornitza Stark Gene: pdxk has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.60 PDXK Zornitza Stark Classified gene: PDXK as Amber List (moderate evidence)
Hereditary Neuropathy v0.60 PDXK Zornitza Stark Gene: pdxk has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.59 PDXK Zornitza Stark gene: PDXK was added
gene: PDXK was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: PDXK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDXK were set to 31187503
Phenotypes for gene: PDXK were set to Axonal polyneuropathy; optic atrophy
Review for gene: PDXK was set to AMBER
Added comment: 5 individuals from two unrelated families, cell-based functional assays. Response to pyridoxal 5'-phosphate supplementation.
Sources: Literature
Hereditary Neuropathy v0.58 KLC2 Zornitza Stark Marked gene: KLC2 as ready
Hereditary Neuropathy v0.58 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.58 KLC2 Zornitza Stark Classified gene: KLC2 as Green List (high evidence)
Hereditary Neuropathy v0.58 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.57 KLC2 Zornitza Stark reviewed gene: KLC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia, optic atrophy, and neuropathy MIM#609541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.57 DHH Zornitza Stark Marked gene: DHH as ready
Hereditary Neuropathy v0.57 DHH Zornitza Stark Gene: dhh has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.57 DHH Zornitza Stark Classified gene: DHH as Green List (high evidence)
Hereditary Neuropathy v0.57 DHH Zornitza Stark Gene: dhh has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.56 DHH Zornitza Stark gene: DHH was added
gene: DHH was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: DHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHH were set to 31018998; 29471294; 11017805
Phenotypes for gene: DHH were set to 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080
Review for gene: DHH was set to GREEN
Added comment: Neuropathy is part of the phenotype of this DSD.
Sources: Expert Review
Hereditary Neuropathy v0.55 CCT5 Bryony Thompson Classified gene: CCT5 as Amber List (moderate evidence)
Hereditary Neuropathy v0.55 CCT5 Bryony Thompson Gene: cct5 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.54 CCT5 Bryony Thompson edited their review of gene: CCT5: Changed rating: AMBER
Hereditary Neuropathy v0.54 CCT5 Bryony Thompson Classified gene: CCT5 as Red List (low evidence)
Hereditary Neuropathy v0.54 CCT5 Bryony Thompson Gene: cct5 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.53 CCT5 Bryony Thompson reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: None; Publications: 16399879, 25124038, 25345891; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.53 XRCC1 Bryony Thompson Classified gene: XRCC1 as Green List (high evidence)
Hereditary Neuropathy v0.53 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.52 XRCC1 Bryony Thompson gene: XRCC1 was added
gene: XRCC1 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 28002403; 29472272
Phenotypes for gene: XRCC1 were set to Spinocerebellar ataxia, autosomal recessive 26 MIM#617633
Review for gene: XRCC1 was set to GREEN
Added comment: Three South Asian cases (one with early adult onset and the other two with onset in childhood) reported with slowly progressive cerebellar ataxia accompanied by sensorimotor neuropathy. All with the recurrent splice variant (c.1293G>C, 2 homozygotes and a compound heterozygote). Mice with conditional deletion of the Xrcc1 gene in the brain showed cerebellar ataxia.
Sources: Expert list
Hereditary Neuropathy v0.51 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Hereditary Neuropathy v0.49 FLVCR1 Zornitza Stark Marked gene: FLVCR1 as ready
Hereditary Neuropathy v0.49 FLVCR1 Zornitza Stark Gene: flvcr1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.49 FLVCR1 Zornitza Stark Classified gene: FLVCR1 as Green List (high evidence)
Hereditary Neuropathy v0.49 FLVCR1 Zornitza Stark Gene: flvcr1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.48 FLVCR1 Zornitza Stark gene: FLVCR1 was added
gene: FLVCR1 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 21267618; 21070897
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, MIM# 609033
Review for gene: FLVCR1 was set to GREEN
gene: FLVCR1 was marked as current diagnostic
Added comment: Sources: Expert list
Hereditary Neuropathy v0.47 RFC1 Zornitza Stark Marked gene: RFC1 as ready
Hereditary Neuropathy v0.47 RFC1 Zornitza Stark Gene: rfc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.47 RFC1 Zornitza Stark Tag STR tag was added to gene: RFC1.
Hereditary Neuropathy v0.47 RFC1 Zornitza Stark Classified gene: RFC1 as Green List (high evidence)
Hereditary Neuropathy v0.47 RFC1 Zornitza Stark Gene: rfc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.46 RFC1 Zornitza Stark gene: RFC1 was added
gene: RFC1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFC1 were set to 30926972
Phenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575
Review for gene: RFC1 was set to GREEN
Added comment: 23 affected individuals from 11 families reported with biallelic AAGGG repeat expansion in intron 2. Expansion carrier frequency of 0.7% in Europeans.
Sources: Literature
Hereditary Neuropathy v0.45 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Hereditary Neuropathy v0.45 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.45 SLC25A46 Zornitza Stark Classified gene: SLC25A46 as Green List (high evidence)
Hereditary Neuropathy v0.45 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.44 SLC25A46 Zornitza Stark gene: SLC25A46 was added
gene: SLC25A46 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A46 were set to 26168012; 27543974
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
Review for gene: SLC25A46 was set to GREEN
Added comment: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy.
Sources: Expert list
Hereditary Neuropathy v0.43 PPOX Zornitza Stark Marked gene: PPOX as ready
Hereditary Neuropathy v0.43 PPOX Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.43 PPOX Zornitza Stark Classified gene: PPOX as Green List (high evidence)
Hereditary Neuropathy v0.43 PPOX Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.42 PPOX Zornitza Stark gene: PPOX was added
gene: PPOX was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPOX were set to Porphyria variegata, MIM# 176200
Review for gene: PPOX was set to GREEN
Added comment: Neuropathy is part of the phenotype.
Sources: NHS GMS
Hereditary Neuropathy v0.41 NAGA Zornitza Stark Marked gene: NAGA as ready
Hereditary Neuropathy v0.41 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.41 NAGA Zornitza Stark Classified gene: NAGA as Green List (high evidence)
Hereditary Neuropathy v0.41 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.40 NAGA Zornitza Stark gene: NAGA was added
gene: NAGA was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to Kanzaki disease, MIM#609242
Review for gene: NAGA was set to GREEN
Added comment: Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI.
Sources: NHS GMS
Hereditary Neuropathy v0.39 IARS2 Zornitza Stark Marked gene: IARS2 as ready
Hereditary Neuropathy v0.39 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.39 IARS2 Zornitza Stark Classified gene: IARS2 as Green List (high evidence)
Hereditary Neuropathy v0.39 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.38 IARS2 Zornitza Stark gene: IARS2 was added
gene: IARS2 was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to 28328135; 30419932; 25130867; 30041933
Phenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007
Review for gene: IARS2 was set to GREEN
Added comment: Sources: NHS GMS
Hereditary Neuropathy v0.37 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Hereditary Neuropathy v0.37 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.37 GJC2 Zornitza Stark Classified gene: GJC2 as Green List (high evidence)
Hereditary Neuropathy v0.37 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.36 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, MIM# 608804
Review for gene: GJC2 was set to GREEN
Added comment: Demyelinating neuropathy; axonal sensory neuropathy.
Sources: NHS GMS
Hereditary Neuropathy v0.35 FXN Zornitza Stark Marked gene: FXN as ready
Hereditary Neuropathy v0.35 FXN Zornitza Stark Gene: fxn has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.35 FXN Zornitza Stark Tag STR tag was added to gene: FXN.
Hereditary Neuropathy v0.35 FXN Zornitza Stark Classified gene: FXN as Green List (high evidence)
Hereditary Neuropathy v0.35 FXN Zornitza Stark Gene: fxn has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.34 FXN Zornitza Stark gene: FXN was added
gene: FXN was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia, MIM# 229300
Mode of pathogenicity for gene: FXN was set to Other
Review for gene: FXN was set to GREEN
Added comment: Peripheral sensory neuropathy is part of the phenotype. Note only ~2% of cases are due to SNVs, majority due to STRs.
Sources: NHS GMS
Hereditary Neuropathy v0.33 FAH Zornitza Stark Marked gene: FAH as ready
Hereditary Neuropathy v0.33 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.33 FAH Zornitza Stark Classified gene: FAH as Green List (high evidence)
Hereditary Neuropathy v0.33 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.32 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I, MIM# 276700
Review for gene: FAH was set to GREEN
Added comment: Episodic peripheral neuropathy.
Sources: NHS GMS
Hereditary Neuropathy v0.31 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Hereditary Neuropathy v0.31 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.31 DGUOK Zornitza Stark Classified gene: DGUOK as Green List (high evidence)
Hereditary Neuropathy v0.31 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.30 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
Review for gene: DGUOK was set to GREEN
Added comment: Sources: NHS GMS
Hereditary Neuropathy v0.29 CPOX Zornitza Stark Marked gene: CPOX as ready
Hereditary Neuropathy v0.29 CPOX Zornitza Stark Gene: cpox has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.29 CPOX Zornitza Stark Classified gene: CPOX as Green List (high evidence)
Hereditary Neuropathy v0.29 CPOX Zornitza Stark Gene: cpox has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.28 CPOX Zornitza Stark gene: CPOX was added
gene: CPOX was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CPOX were set to Coproporphyria, MIM#121300; Harderoporphyria, MIM#121300
Review for gene: CPOX was set to GREEN
Added comment: Acute intermittent porphyria-like phenotype, including neuropathy.
Sources: NHS GMS
Hereditary Neuropathy v0.27 CD59 Zornitza Stark Marked gene: CD59 as ready
Hereditary Neuropathy v0.27 CD59 Zornitza Stark Gene: cd59 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.27 CD59 Zornitza Stark Classified gene: CD59 as Green List (high evidence)
Hereditary Neuropathy v0.27 CD59 Zornitza Stark Gene: cd59 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.26 CD59 Zornitza Stark gene: CD59 was added
gene: CD59 was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD59 were set to 24382084; 23149847
Phenotypes for gene: CD59 were set to Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy 612300
Review for gene: CD59 was set to GREEN
Added comment: Infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia.
Sources: NHS GMS
Hereditary Neuropathy v0.25 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Hereditary Neuropathy v0.25 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.25 BCKDHB Zornitza Stark Classified gene: BCKDHB as Green List (high evidence)
Hereditary Neuropathy v0.25 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.24 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple Syrup Urine Disease, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropathy
Review for gene: BCKDHB was set to GREEN
Added comment: Sources: NHS GMS
Hereditary Neuropathy v0.23 APOA1 Zornitza Stark Marked gene: APOA1 as ready
Hereditary Neuropathy v0.23 APOA1 Zornitza Stark Gene: apoa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.23 APOA1 Zornitza Stark Classified gene: APOA1 as Green List (high evidence)
Hereditary Neuropathy v0.23 APOA1 Zornitza Stark Gene: apoa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.22 APOA1 Zornitza Stark gene: APOA1 was added
gene: APOA1 was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APOA1 were set to Amyloidosis, 3 or more types 105200; Renal failure, Axonal sensory-motor neuropathy, amyloid nephropathy
Review for gene: APOA1 was set to GREEN
Added comment: Neuropathy is a predominant feature, particularly of the Iowa type, associated with p.Gly26Arg
Sources: NHS GMS
Hereditary Neuropathy v0.21 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Hereditary Neuropathy v0.21 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.21 AIFM1 Zornitza Stark Publications for gene: AIFM1 were set to
Hereditary Neuropathy v0.20 AIFM1 Zornitza Stark reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 3856385, 22019070, 26173962, 25583628; Phenotypes: Combined oxidative phosphorylation deficiency 6, Cowchock syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy v0.20 AGXT Zornitza Stark Marked gene: AGXT as ready
Hereditary Neuropathy v0.20 AGXT Zornitza Stark Gene: agxt has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.20 AGXT Zornitza Stark Classified gene: AGXT as Green List (high evidence)
Hereditary Neuropathy v0.20 AGXT Zornitza Stark Gene: agxt has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.19 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, MIM#259900
Review for gene: AGXT was set to GREEN
Added comment: Multi-system oxalate deposition including leading to neuropathy.
Sources: NHS GMS
Hereditary Neuropathy v0.18 AGTPBP1 Zornitza Stark Marked gene: AGTPBP1 as ready
Hereditary Neuropathy v0.18 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.18 AGTPBP1 Zornitza Stark Classified gene: AGTPBP1 as Green List (high evidence)
Hereditary Neuropathy v0.18 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.17 AGTPBP1 Zornitza Stark gene: AGTPBP1 was added
gene: AGTPBP1 was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Review for gene: AGTPBP1 was set to GREEN
Added comment: Thirteen individuals with bi-allelic variants in this gene, neuropathy is a major feature.
Sources: NHS GMS
Hereditary Neuropathy v0.16 AAAS Zornitza Stark Marked gene: AAAS as ready
Hereditary Neuropathy v0.16 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.16 AAAS Zornitza Stark Phenotypes for gene: AAAS were changed from HMSN; Glucocorticoid deficiency with achalasia to HMSN; Glucocorticoid deficiency with achalasia; Achalasia-addisonianism-alacrimia syndrome, MIM# 231550
Hereditary Neuropathy v0.15 AAAS Zornitza Stark reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM# 231550; Mode of inheritance: None
Hereditary Neuropathy v0.14 Bryony Thompson Panel name changed from Hereditary Neuropathy - complex_RMH to Hereditary Neuropathy - complex
Panel types changed to Royal Melbourne Hospital; Rare Disease
Hereditary Neuropathy v0.13 PEX12 Bryony Thompson reviewed gene: PEX12: Rating: RED; Mode of pathogenicity: None; Publications: 24627108; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.13 NIPA1 Bryony Thompson reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: None; Publications: 21419568; Phenotypes: Spastic paraplegia 6, autosomal dominant MIM#600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.13 IFRD1 Bryony Thompson reviewed gene: IFRD1: Rating: RED; Mode of pathogenicity: None; Publications: 29362493, 19409521; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.13 GJB3 Bryony Thompson Marked gene: GJB3 as ready
Hereditary Neuropathy v0.13 GJB3 Bryony Thompson Gene: gjb3 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.13 GJB3 Bryony Thompson reviewed gene: GJB3: Rating: RED; Mode of pathogenicity: None; Publications: 11309368, 19755382, 16077902, 17142249, 12165562; Phenotypes: ; Mode of inheritance: None
Hereditary Neuropathy v0.13 AMPD2 Bryony Thompson Marked gene: AMPD2 as ready
Hereditary Neuropathy v0.13 AMPD2 Bryony Thompson Gene: ampd2 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.13 AMPD2 Bryony Thompson reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: None; Publications: 27066553; Phenotypes: ; Mode of inheritance: None
Hereditary Neuropathy v0.13 Bryony Thompson removed gene:RBM7 from the panel
Hereditary Neuropathy v0.12 PEX10 Bryony Thompson changed review comment from: Three unrelated families/cases reported with axonal motor neuropathy; to: Three unrelated families/cases reported with a complex phenotype including axonal motor neuropathy
Hereditary Neuropathy v0.12 PEX10 Bryony Thompson Marked gene: PEX10 as ready
Hereditary Neuropathy v0.12 PEX10 Bryony Thompson Gene: pex10 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.12 PEX10 Bryony Thompson Classified gene: PEX10 as Green List (high evidence)
Hereditary Neuropathy v0.12 PEX10 Bryony Thompson Gene: pex10 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.11 PEX10 Bryony Thompson reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 27230853, 20695019; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870, Peroxisome biogenesis disorder 6B MIM#614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.11 Bryony Thompson removed gene:PDK3 from the panel
Hereditary Neuropathy v0.10 ASCC1 Bryony Thompson Marked gene: ASCC1 as ready
Hereditary Neuropathy v0.10 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.10 ASCC1 Bryony Thompson Classified gene: ASCC1 as Green List (high evidence)
Hereditary Neuropathy v0.10 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.9 ASCC1 Bryony Thompson edited their review of gene: ASCC1: Added comment: >3 cases/families reported with a complex neuropathy phenotype. Onset of disease is prenatal and death occurs in the first days or months of life.; Changed rating: GREEN; Changed publications: 31880396, 30327447, 26924529; Changed phenotypes: Spinal muscular atrophy with congenital bone fractures 2 MIM#616867, dHMN/dSMA; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.9 DEGS1 Bryony Thompson Marked gene: DEGS1 as ready
Hereditary Neuropathy v0.9 DEGS1 Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.9 DEGS1 Bryony Thompson Classified gene: DEGS1 as Green List (high evidence)
Hereditary Neuropathy v0.9 DEGS1 Bryony Thompson Added comment: Comment on list classification: Complex phenotype including neuropathy
Hereditary Neuropathy v0.9 DEGS1 Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.8 DEGS1 Bryony Thompson Deleted their review
Hereditary Neuropathy v0.7 DEGS1 Bryony Thompson gene: DEGS1 was added
gene: DEGS1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert list
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: DEGS1 was set to GREEN
Added comment: Sources: Expert list
Hereditary Neuropathy v0.6 SPTBN4 Bryony Thompson Classified gene: SPTBN4 as Green List (high evidence)
Hereditary Neuropathy v0.6 SPTBN4 Bryony Thompson Gene: sptbn4 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.5 SPTBN4 Bryony Thompson gene: SPTBN4 was added
gene: SPTBN4 was added to Hereditary Neuropathy - complex_RMH. Sources: Literature
Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN4 were set to 28540413; 29861105
Phenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519
Review for gene: SPTBN4 was set to GREEN
Added comment: 6 families with a severe neurological syndrome that includes congenital hypotonia, intellectual disability, and motor axonal and auditory neuropathy
Sources: Literature
Hereditary Neuropathy v0.4 KLC2 Bryony Thompson gene: KLC2 was added
gene: KLC2 was added to Hereditary Neuropathy - complex_RMH. Sources: Literature
SV/CNV tags were added to gene: KLC2.
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC2 were set to 26385635
Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Review for gene: KLC2 was set to RED
Added comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. The deletion is not detected by whole-exome sequencing. Later onset of sensorimotor peripheral neuropathy is a feature of the condition.
Sources: Literature
Hereditary Neuropathy v0.3 EXOSC8 Bryony Thompson Marked gene: EXOSC8 as ready
Hereditary Neuropathy v0.3 EXOSC8 Bryony Thompson Gene: exosc8 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.3 EXOSC8 Bryony Thompson Classified gene: EXOSC8 as Red List (low evidence)
Hereditary Neuropathy v0.3 EXOSC8 Bryony Thompson Gene: exosc8 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.2 EXOSC8 Bryony Thompson reviewed gene: EXOSC8: Rating: RED; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.2 ASCC1 Bryony Thompson Marked gene: ASCC1 as ready
Hereditary Neuropathy v0.2 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.2 ASCC1 Bryony Thompson Publications for gene: ASCC1 were set to
Hereditary Neuropathy v0.1 ASCC1 Bryony Thompson Classified gene: ASCC1 as Red List (low evidence)
Hereditary Neuropathy v0.1 ASCC1 Bryony Thompson Added comment: Comment on list classification: Not relevant for testing in an adult hospital. Onset of disease is prenatal and death occurs in the first days or months of life.
Hereditary Neuropathy v0.1 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.0 ARSA Bryony Thompson gene: ARSA was added
gene: ARSA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
Hereditary Neuropathy v0.0 PMM2 Bryony Thompson gene: PMM2 was added
gene: PMM2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Neonatal-onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy
Hereditary Neuropathy v0.0 MFF Bryony Thompson gene: MFF was added
gene: MFF was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFF were set to Leigh-like syndrome, developmental delay, optic atrophy, seizures, sensory-motor neuropathy with SNCV, Leigh syndrome-like MRI brain (T2 high signal of basal ganglia and subthalamic nucleus)
Hereditary Neuropathy v0.0 ERCC8 Bryony Thompson gene: ERCC8 was added
gene: ERCC8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
Hereditary Neuropathy v0.0 ERCC6 Bryony Thompson gene: ERCC6 was added
gene: ERCC6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
Hereditary Neuropathy v0.0 AP1S1 Bryony Thompson gene: AP1S1 was added
gene: AP1S1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP1S1 were set to Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Hereditary Neuropathy v0.0 PTRH2 Bryony Thompson gene: PTRH2 was added
gene: PTRH2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy
Hereditary Neuropathy v0.0 AMPD2 Bryony Thompson gene: AMPD2 was added
gene: AMPD2 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to 27066553
Phenotypes for gene: AMPD2 were set to Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI
Hereditary Neuropathy v0.0 HEXB Bryony Thompson gene: HEXB was added
gene: HEXB was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described; Tay-Sachs disease
Hereditary Neuropathy v0.0 SUCLA2 Bryony Thompson gene: SUCLA2 was added
gene: SUCLA2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy
Hereditary Neuropathy v0.0 ATAD3A Bryony Thompson gene: ATAD3A was added
gene: ATAD3A was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATAD3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATAD3A were set to Global developmental delay, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy
Hereditary Neuropathy v0.0 NGLY1 Bryony Thompson gene: NGLY1 was added
gene: NGLY1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy
Hereditary Neuropathy v0.0 SNAP29 Bryony Thompson gene: SNAP29 was added
gene: SNAP29 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life
Hereditary Neuropathy v0.0 AMACR Bryony Thompson gene: AMACR was added
gene: AMACR was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMACR were set to Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids
Hereditary Neuropathy v0.0 ABCD1 Bryony Thompson gene: ABCD1 was added
gene: ABCD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCD1 were set to Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance
Hereditary Neuropathy v0.0 CYP7B1 Bryony Thompson gene: CYP7B1 was added
gene: CYP7B1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7B1 were set to Childhood to adult-onset spastic paraplegia and bladder dysfunction, periventricular white matter abnormalities on MRI, one patient described with SNCV
Hereditary Neuropathy v0.0 ALDH18A1 Bryony Thompson gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ALDH18A1 were set to Adolescent-onset and adult-onset spastic paraplegia, dysarthria and motor neuronopathy, cataracts, skeletal abnormalities
Hereditary Neuropathy v0.0 GBE1 Bryony Thompson gene: GBE1 was added
gene: GBE1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI
Hereditary Neuropathy v0.0 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AFG3L2 were set to Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia
Hereditary Neuropathy v0.0 CYP2U1 Bryony Thompson gene: CYP2U1 was added
gene: CYP2U1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Onset first decade, spastic paraplegia, rarely dystonia and cognitive impairment, subclinical sensory-motor axonal neuropathy
Hereditary Neuropathy v0.0 C19orf12 Bryony Thompson gene: C19orf12 was added
gene: C19orf12 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to Childhood-onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs
Hereditary Neuropathy v0.0 DDHD1 Bryony Thompson gene: DDHD1 was added
gene: DDHD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD1 were set to Spastic paraplegia, occasionally cerebellar eye signs and subclinical axonal neuropathy
Hereditary Neuropathy v0.0 B4GALNT1 Bryony Thompson gene: B4GALNT1 was added
gene: B4GALNT1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy
Hereditary Neuropathy v0.0 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to HMSN; Spastic paraplegia 15
Hereditary Neuropathy v0.0 DNAJC3 Bryony Thompson gene: DNAJC3 was added
gene: DNAJC3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC3 were set to 25466870
Phenotypes for gene: DNAJC3 were set to Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus
Hereditary Neuropathy v0.0 SCYL1 Bryony Thompson gene: SCYL1 was added
gene: SCYL1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Hereditary Neuropathy v0.0 PDYN Bryony Thompson gene: PDYN was added
gene: PDYN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDYN were set to Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23
Hereditary Neuropathy v0.0 PEX10 Bryony Thompson gene: PEX10 was added
gene: PEX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 27230853; 20695019
Phenotypes for gene: PEX10 were set to Failure to thrive, facial dimorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described
Hereditary Neuropathy v0.0 DARS2 Bryony Thompson gene: DARS2 was added
gene: DARS2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
Hereditary Neuropathy v0.0 TTPA Bryony Thompson gene: TTPA was added
gene: TTPA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with vitamin E deficiency; Early-onset ataxia and sensory axonal neuropathy similar to Friedreich’s ataxia, head titubation, normal fat absorption unlike abetalipoproteinemia, rarely retinitis pigmentosa
Hereditary Neuropathy v0.0 MTTP Bryony Thompson gene: MTTP was added
gene: MTTP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy
Hereditary Neuropathy v0.0 ATM Bryony Thompson gene: ATM was added
gene: ATM was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome
Hereditary Neuropathy v0.0 TRIP4 Bryony Thompson gene: TRIP4 was added
gene: TRIP4 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP4 were set to Spinal muscular atrophy with congenital bone fractures 1
Hereditary Neuropathy v0.0 TECPR2 Bryony Thompson gene: TECPR2 was added
gene: TECPR2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive; HSAN/SFN
Hereditary Neuropathy v0.0 TDP1 Bryony Thompson gene: TDP1 was added
gene: TDP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP1 were set to 31182267
Phenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1; HMSN
Hereditary Neuropathy v0.0 RBM7 Bryony Thompson gene: RBM7 was added
gene: RBM7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: RBM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM7 were set to 27193168
Phenotypes for gene: RBM7 were set to SMA-like phenotype; dHMN/dSMA
Hereditary Neuropathy v0.0 PLP1 Bryony Thompson gene: PLP1 was added
gene: PLP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease; Infantile-onset, nystagmus, cognitive impairment, spasticity and ataxia, leukodystrophy on MRI, mild multifocal SNCV neuropathy seen with null mutations and more mild phenotype of mild spasticity and ataxia; HMSN
Hereditary Neuropathy v0.0 PEX12 Bryony Thompson gene: PEX12 was added
gene: PEX12 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX12 were set to 24627108
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859; HMSN
Hereditary Neuropathy v0.0 NIPA1 Bryony Thompson gene: NIPA1 was added
gene: NIPA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NIPA1 were set to 21419568
Phenotypes for gene: NIPA1 were set to Spastic paraplegia 6
Hereditary Neuropathy v0.0 IFRD1 Bryony Thompson gene: IFRD1 was added
gene: IFRD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFRD1 were set to 29362493; 19409521
Phenotypes for gene: IFRD1 were set to autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458); HMSN
Hereditary Neuropathy v0.0 HMBS Bryony Thompson gene: HMBS was added
gene: HMBS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HMBS were set to Acute intermittent porphyria; dHMN/dSMA
Hereditary Neuropathy v0.0 HEXA Bryony Thompson gene: HEXA was added
gene: HEXA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described; Tay-Sachs disease
Hereditary Neuropathy v0.0 HADHA Bryony Thompson gene: HADHA was added
gene: HADHA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Hereditary Neuropathy v0.0 GSN Bryony Thompson gene: GSN was added
gene: GSN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GSN were set to Amyloidosis, Finnish type; HMSN
Hereditary Neuropathy v0.0 GALC Bryony Thompson gene: GALC was added
gene: GALC was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Galactosylceramide beta-galactosidase deficiency; HMSN
Hereditary Neuropathy v0.0 EXOSC8 Bryony Thompson gene: EXOSC8 was added
gene: EXOSC8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC8 were set to dHMN/dSMA; Pontocerebellar hypoplasia, type 1c
Hereditary Neuropathy v0.0 EXOSC3 Bryony Thompson gene: EXOSC3 was added
gene: EXOSC3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1b; dHMN/dSMA
Hereditary Neuropathy v0.0 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to HMSN; Cholestanol storage disease
Hereditary Neuropathy v0.0 COX10 Bryony Thompson gene: COX10 was added
gene: COX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; HMSN
Hereditary Neuropathy v0.0 CLP1 Bryony Thompson gene: CLP1 was added
gene: CLP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10; dHMN/dSMA
Hereditary Neuropathy v0.0 TWNK Bryony Thompson gene: TWNK was added
gene: TWNK was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TWNK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TWNK were set to HMSN; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Hereditary Neuropathy v0.0 ASCC1 Bryony Thompson gene: ASCC1 was added
gene: ASCC1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASCC1 were set to Spinal muscular atrophy with congenital bone fractures 2
Hereditary Neuropathy v0.0 ASAH1 Bryony Thompson gene: ASAH1 was added
gene: ASAH1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy; dHMN/dSMA
Hereditary Neuropathy v0.0 ARL6IP1 Bryony Thompson gene: ARL6IP1 was added
gene: ARL6IP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6IP1 were set to HSAN/SFN; Childhood-onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy
Hereditary Neuropathy v0.0 ABCA1 Bryony Thompson gene: ABCA1 was added
gene: ABCA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA1 were set to HMSN; Tangier disease
Hereditary Neuropathy v0.0 AAAS Bryony Thompson gene: AAAS was added
gene: AAAS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to HMSN; Glucocorticoid deficiency with achalasia
Hereditary Neuropathy v0.0 SURF1 Bryony Thompson gene: SURF1 was added
gene: SURF1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency, 256000; HMSN; Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV
Hereditary Neuropathy v0.0 SPAST Bryony Thompson gene: SPAST was added
gene: SPAST was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant; Spasticity; Hereditary Neuropathies
Hereditary Neuropathy v0.0 SOX10 Bryony Thompson gene: SOX10 was added
gene: SOX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX10 were set to PCWH syndrome, 609136; Waardenburg syndrome, type 4C, 613266; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; HMSN
Hereditary Neuropathy v0.0 SLC52A3 Bryony Thompson gene: SLC52A3 was added
gene: SLC52A3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease
Hereditary Neuropathy v0.0 SLC52A2 Bryony Thompson gene: SLC52A2 was added
gene: SLC52A2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2
Hereditary Neuropathy v0.0 PNPLA6 Bryony Thompson gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to progressive distal motor neuropathy beginning in early through late adolescence; Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia
Hereditary Neuropathy v0.0 PNKP Bryony Thompson gene: PNKP was added
gene: PNKP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Ataxia-oculomotor apraxia 4, 616267; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; HMSN
Hereditary Neuropathy v0.0 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Infantile-onset, progressive neurodegeneration (tetraplegia, dementia, visual loss) and axonal sensory-motor neuropathy, globus pallidus iron deposition on MRI
Hereditary Neuropathy v0.0 PDK3 Bryony Thompson gene: PDK3 was added
gene: PDK3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDK3 were set to ?Charcot Marie Tooth disease, X linked dominant, 6, 300905; HMSN
Hereditary Neuropathy v0.0 PDHA1 Bryony Thompson gene: PDHA1 was added
gene: PDHA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency; HMSN
Hereditary Neuropathy v0.0 NTRK1 Bryony Thompson gene: NTRK1 was added
gene: NTRK1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to HSAN/SFN; Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis
Hereditary Neuropathy v0.0 MYH14 Bryony Thompson gene: MYH14 was added
gene: MYH14 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; HMSN
Hereditary Neuropathy v0.0 MCM3AP Bryony Thompson gene: MCM3AP was added
gene: MCM3AP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
Hereditary Neuropathy v0.0 LYST Bryony Thompson gene: LYST was added
gene: LYST was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy; Chediak-Higashi syndrome, 214500
Hereditary Neuropathy v0.0 KARS Bryony Thompson gene: KARS was added
gene: KARS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KARS were set to HMSN; Charcot Marie Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916
Hereditary Neuropathy v0.0 HADHB Bryony Thompson gene: HADHB was added
gene: HADHB was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015; HMSN
Hereditary Neuropathy v0.0 GJB3 Bryony Thompson gene: GJB3 was added
gene: GJB3 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: GJB3 was set to
Phenotypes for gene: GJB3 were set to HMSN; erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy
Hereditary Neuropathy v0.0 GBA2 Bryony Thompson gene: GBA2 was added
gene: GBA2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409; SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy
Hereditary Neuropathy v0.0 FAM126A Bryony Thompson gene: FAM126A was added
gene: FAM126A was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to HMSN; Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532
Hereditary Neuropathy v0.0 DCAF8 Bryony Thompson gene: DCAF8 was added
gene: DCAF8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DCAF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DCAF8 were set to ?Giant axonal neuropathy 2, autosomal dominant, 610100; HMSN
Hereditary Neuropathy v0.0 CTDP1 Bryony Thompson gene: CTDP1 was added
gene: CTDP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTDP1 were set to Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN); HMSN
Hereditary Neuropathy v0.0 CNTNAP1 Bryony Thompson gene: CNTNAP1 was added
gene: CNTNAP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, 618186
Hereditary Neuropathy v0.0 CCT5 Bryony Thompson gene: CCT5 was added
gene: CCT5 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HMSN
Hereditary Neuropathy v0.0 BAG3 Bryony Thompson gene: BAG3 was added
gene: BAG3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881; HMSN
Hereditary Neuropathy v0.0 APTX Bryony Thompson gene: APTX was added
gene: APTX was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Hereditary Neuropathies
Hereditary Neuropathy v0.0 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; Neurodegeneration, childhood-onset, with cerebellar atrophy,612674; HMSN
Hereditary Neuropathy v0.0 XK Bryony Thompson gene: XK was added
gene: XK was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease, 300842; acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy
Hereditary Neuropathy v0.0 TYMP Bryony Thompson gene: TYMP was added
gene: TYMP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type); HMSN
Hereditary Neuropathy v0.0 TUBB3 Bryony Thompson gene: TUBB3 was added
gene: TUBB3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TUBB3 were set to Fibrosis of extraocular muscles, congenital, 3A; HMSN
Hereditary Neuropathy v0.0 TTR Bryony Thompson gene: TTR was added
gene: TTR was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were set to Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN
Hereditary Neuropathy v0.0 SLC12A6 Bryony Thompson gene: SLC12A6 was added
gene: SLC12A6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; HMSN
Hereditary Neuropathy v0.0 SETX Bryony Thompson gene: SETX was added
gene: SETX was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to dHMN/dSMA; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary Neuropathy v0.0 SACS Bryony Thompson gene: SACS was added
gene: SACS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia Charlevoix-Saguenay type; HMSN
Hereditary Neuropathy v0.0 PRNP Bryony Thompson gene: PRNP was added
gene: PRNP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRNP were set to Prion diseases
Hereditary Neuropathy v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1; Cardiomyopathy; sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); HMSN
Hereditary Neuropathy v0.0 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease; Phytanic acid storage disease
Hereditary Neuropathy v0.0 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Refsum disease; Phytanic acid storage disease
Hereditary Neuropathy v0.0 OPA1 Bryony Thompson gene: OPA1 was added
gene: OPA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500; HMSN
Hereditary Neuropathy v0.0 GLA Bryony Thompson gene: GLA was added
gene: GLA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were set to Cardiomyopathy; HSAN/SFN; Fabry disease
Hereditary Neuropathy v0.0 GAN Bryony Thompson gene: GAN was added
gene: GAN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to HMSN; Giant axonal neuropathy-1
Hereditary Neuropathy v0.0 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy
Hereditary Neuropathy v0.0 C12orf65 Bryony Thompson gene: C12orf65 was added
gene: C12orf65 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to Spastic paraplegia 55, autosomal recessive, MIM#615035; HMSN
Hereditary Neuropathy v0.0 AIFM1 Bryony Thompson gene: AIFM1 was added
gene: AIFM1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6; Cowchock syndrome; HMSN
Hereditary Neuropathy v0.0 Bryony Thompson Added panel Hereditary Neuropathy - complex_RMH