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Hereditary Neuropathy_CMT - isolated v1.51 ARPC3 Bryony Thompson Marked gene: ARPC3 as ready
Hereditary Neuropathy_CMT - isolated v1.51 ARPC3 Bryony Thompson Gene: arpc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v1.51 ARPC3 Bryony Thompson Classified gene: ARPC3 as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v1.51 ARPC3 Bryony Thompson Gene: arpc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v1.50 ARPC3 Bryony Thompson gene: ARPC3 was added
gene: ARPC3 was added to Hereditary Neuropathy_CMT - isolated. Sources: 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
Phenotypes for gene: ARPC3 were set to Charcot-Marie-Tooth disease MONDO:0015626
Review for gene: ARPC3 was set to AMBER
Added comment: Posterior probability association (PPA) 0.995 for Charcot-Marie Tooth disease under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 549 CMT cases and 54,856 controls used in BeviMed analysis. 5 rare variants (missense, splice region, a splice acceptor site) enriched in the CMT cohort (n=14). Additionally, ArpC3 conditional knockout mice fail to ensheath axons causing axon dysfunction.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v1.49 FICD Zornitza Stark Phenotypes for gene: FICD were changed from Hereditary motor neurone disease, FICD-related, MONDO:0024257 to Spastic paraplegia 92, autosomal recessive, MIM# 620911
Hereditary Neuropathy_CMT - isolated v1.48 RTN2 Zornitza Stark Phenotypes for gene: RTN2 were changed from distal hereditary motor neuropathy, MONDO:0018894, RTN2-related to Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854
Hereditary Neuropathy_CMT - isolated v1.47 RTN2 Zornitza Stark edited their review of gene: RTN2: Changed phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854
Hereditary Neuropathy_CMT - isolated v1.47 MARS Zornitza Stark Classified gene: MARS as Red List (low evidence)
Hereditary Neuropathy_CMT - isolated v1.47 MARS Zornitza Stark Gene: mars has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v1.46 MED25 Zornitza Stark Tag disputed tag was added to gene: MED25.
Hereditary Neuropathy_CMT - isolated v1.46 MED25 Zornitza Stark reviewed gene: MED25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary Neuropathy_CMT - isolated v1.46 MED25 Zornitza Stark Deleted their review
Hereditary Neuropathy_CMT - isolated v1.46 PMP2 Zornitza Stark Mode of pathogenicity for gene: PMP2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary Neuropathy_CMT - isolated v1.45 PMP2 Zornitza Stark Classified gene: PMP2 as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v1.45 PMP2 Zornitza Stark Gene: pmp2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v1.44 PMP2 Zornitza Stark reviewed gene: PMP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26257172, 27009151, 30249361, 31412900, 26828946, 32277537; Phenotypes: Charcot-Marie-Tooth disease MONDO:0015626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.44 WARS Zornitza Stark Classified gene: WARS as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v1.44 WARS Zornitza Stark Gene: wars has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v1.43 WARS Zornitza Stark edited their review of gene: WARS: Added comment: ClinGen curation:

In 2017, three families, two Taiwanese and one Belgian, were shown to carry the same heterozygous His257Arg missense variant in WARS1 co-segregating with a juvenile onset distal motor neuropathy phenotype (PMID: 28369220). The authors show evidence of a dominant-negative effect of the His257Arg mutation capable of dimerizing with the wild-type protein and impairing the overall aminoacylation function. When transfected into neuronal-like cells, an effect on neurite length was also observed. Two other WARS1 missense variants have been linked with this consistent juvenile onset HMN phenotype since then (PMID: 31321409). In these two families, significant segregation or de novo inheritance was shown, but functional evidence was absent. The phenotype in all five published WARS1 families is very consistent, a juvenile onset motor neuropathy phenotype affecting both upper and lower limbs without any sensory involvement.

The panel concludes that the evidence for the pathogenicity of the His257Arg mutation is sufficient to link WARS1 to the motor neuropathy phenotype. More reports will solidify the gene-disease relationship in the future. Based on the curated evidence, we classify the gene-disease relationship of WARS1 and autosomal dominant motor neuropathy as limited, but with the advice to include it on panels.; Changed rating: AMBER
Hereditary Neuropathy_CMT - isolated v1.43 RTN2 Zornitza Stark Marked gene: RTN2 as ready
Hereditary Neuropathy_CMT - isolated v1.43 RTN2 Zornitza Stark Gene: rtn2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.43 RTN2 Zornitza Stark Classified gene: RTN2 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v1.43 RTN2 Zornitza Stark Gene: rtn2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.42 RTN2 Zornitza Stark gene: RTN2 was added
gene: RTN2 was added to Hereditary Neuropathy_CMT - isolated. Sources: 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 distal hereditary motor neuropathy, MONDO:0018894, RTN2-related
Review for gene: RTN2 was set to GREEN
Added comment: PMID:38527963 reported the identification of seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven unrelated families with distal hereditary motor neuropathy.

All affected individuals exhibited weakness in the distal upper and lower limbs, lower limb spasticity, hyperreflexia, with an onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography.

Characterisation of C. elegans RTN2 homolog loss-of-function variants demonstrated morphological and behavioural differences compared to the parental strain, and treatment with an endoplasmic/sarcoplasmic reticulum Ca(2+) re-uptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v1.41 CADM3 Zornitza Stark Publications for gene: CADM3 were set to PMID: 33889941
Hereditary Neuropathy_CMT - isolated v1.40 CADM3 Zornitza Stark Classified gene: CADM3 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v1.40 CADM3 Zornitza Stark Gene: cadm3 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.39 CADM3 Achchuthan Shanmugasundram reviewed gene: CADM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38074074; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2FF, OMIM:619519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.39 WARS Sangavi Sivagnanasundram reviewed gene: WARS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: distal hereditary motor neuropathy MONDO:0018894; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.39 SORD Sangavi Sivagnanasundram reviewed gene: SORD: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006246; Phenotypes: Charcot-Marie-Tooth disease (MONDO:0015626); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v1.39 PMP2 Sangavi Sivagnanasundram reviewed gene: PMP2: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 28747762, https://search.clinicalgenome.org/CCID:005836; Phenotypes: Charcot-Marie-Tooth disease MONDO:0015626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.39 MED25 Sangavi Sivagnanasundram reviewed gene: MED25: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005366; Phenotypes: Charcot-Marie-Tooth disease type 2B2 MONDO:0011570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v1.39 MARS Sangavi Sivagnanasundram reviewed gene: MARS: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005337; Phenotypes: Charcot-Marie-Tooth disease MONDO:0015626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.39 HINT1 Sangavi Sivagnanasundram reviewed gene: HINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33404983; Phenotypes: Charcot-Marie-Tooth disease MONDO:0015626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v1.39 BSCL2 Sangavi Sivagnanasundram edited their review of gene: BSCL2: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary Neuropathy_CMT - isolated v1.39 DYNC1H1 Sangavi Sivagnanasundram Deleted their review
Hereditary Neuropathy_CMT - isolated v1.39 DYNC1H1 Sangavi Sivagnanasundram Deleted their comment
Hereditary Neuropathy_CMT - isolated v1.39 DYNC1H1 Sangavi Sivagnanasundram reviewed gene: DYNC1H1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: obsolete neuronopathy, distal hereditary motor (MONDO:0000075); Mode of inheritance: None
Hereditary Neuropathy_CMT - isolated v1.39 BSCL2 Sangavi Sivagnanasundram reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25832430, 23470542, https://search.clinicalgenome.org/CCID:004292; Phenotypes: distal hereditary motor neuropathy MONDO:0018894; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.39 ATP7A Sangavi Sivagnanasundram reviewed gene: ATP7A: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004216; Phenotypes: X-linked distal spinal muscular atrophy type 3 (MONDO:0010338); Mode of inheritance: None
Hereditary Neuropathy_CMT - isolated v1.39 ATP1A1 Sangavi Sivagnanasundram commented on gene: ATP1A1
Hereditary Neuropathy_CMT - isolated v1.39 ATL3 Sangavi Sivagnanasundram reviewed gene: ATL3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: neuropathy, hereditary sensory, type 1F (MONDO:0014286); Mode of inheritance: None
Hereditary Neuropathy_CMT - isolated v1.39 BANF1 Zornitza Stark Marked gene: BANF1 as ready
Hereditary Neuropathy_CMT - isolated v1.39 BANF1 Zornitza Stark Gene: banf1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v1.39 BANF1 Zornitza Stark gene: BANF1 was added
gene: BANF1 was added to Hereditary Neuropathy_CMT - isolated. Sources: 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
Review for gene: BANF1 was set to RED
Added comment: Single individual reported with de novo variant, Gly16Arg, and a neuropathy.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v1.38 MYO9B Elena Savva Classified gene: MYO9B as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v1.38 MYO9B Elena Savva Gene: myo9b has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v1.37 MYO9B Elena Savva Marked gene: MYO9B as ready
Hereditary Neuropathy_CMT - isolated v1.37 MYO9B Elena Savva Gene: myo9b has been removed from the panel.
Hereditary Neuropathy_CMT - isolated v1.37 MYO9B Melanie Marty gene: MYO9B was added
gene: MYO9B was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature
Mode of inheritance for gene: MYO9B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO9B were set to PMID: 36260368
Phenotypes for gene: MYO9B were set to Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related
Review for gene: MYO9B was set to AMBER
Added comment: PMID: 36260368 2 x families with CMT2 neuropathy (1st family: 2 siblings with hom missense variants + 2nd family: 2 siblings with chet missense and in frame del). 1 patient with isolated optic atrophy with 2 x chet missense variants.

Western blot analysis in patient fibroblasts (CMT2 patient with hom missense) showed that MYO9B expression levels were significantly decreased.

Myo9b-null mouse model: analysis of sciatic nerve, spinal cord, and optic nerve. A few degenerated myelinated axons and clusters of regenerated axons in sciatic nerves (at 12 months) but the other nerves looked normal. Ultrastructural analysis of optic nerves revealed loss of myelinated fibers, and occasional enlarged axons that contained accumulations of organelles.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v1.37 MME Bryony Thompson Mode of inheritance for gene: MME was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v1.36 MME Bryony Thompson Deleted their review
Hereditary Neuropathy_CMT - isolated v1.36 MME Bryony Thompson commented on gene: MME
Hereditary Neuropathy_CMT - isolated v1.36 MME Bryony Thompson Deleted their review
Hereditary Neuropathy_CMT - isolated v1.36 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from Distal hereditary motor neuropathy; dHMN/dSMA to Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Hereditary Neuropathy_CMT - isolated v1.35 VRK1 Zornitza Stark edited their review of gene: VRK1: Changed phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Hereditary Neuropathy_CMT - isolated v1.35 SLC12A6 Bryony Thompson Marked gene: SLC12A6 as ready
Hereditary Neuropathy_CMT - isolated v1.35 SLC12A6 Bryony Thompson Gene: slc12a6 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.35 SLC12A6 Bryony Thompson Classified gene: SLC12A6 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v1.35 SLC12A6 Bryony Thompson Gene: slc12a6 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.34 SLC12A6 Sangavi Sivagnanasundram gene: SLC12A6 was added
gene: SLC12A6 was added to Hereditary Neuropathy_CMT - isolated. Sources: Other
Mode of inheritance for gene: SLC12A6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC12A6 were set to 31439721; 27485015; 33323309
Phenotypes for gene: SLC12A6 were set to Charcot-Marie-Tooth disease, axonal, type 2II (MIM#620068)
Review for gene: SLC12A6 was set to GREEN
Added comment: Well established gene-disease association.
>3 unrelated individuals with variants in SLC12A6 and a clinical diagnosis of hereditary neuropathy. Age of onset of disease is variable (typically within the first 4 decades of life).

31439721; 27485015
In vitro functional studies were conducted that showed a reduced in protein activity in the presence of a mutation in SLC12A6 relevant to neuropathy

PMID: 27485015
10yr with progressive axonal peripheral neuropathy and the presence of T991A missense variant. In vitro functional assay using fibroblast and HEK293 cells showed that in the presence of the mutation there was a reduction in protein function.

PMID: 33323309
31M with progressive muscle weakness from the age of 27. Nerve conduction studies confirmed sensorimotor neuropathy indicating intermediate CMT and a genetic finding of R207H heterozygous variant in SLC12A6.
Sources: Other
Hereditary Neuropathy_CMT - isolated v1.34 DNAJB2 Elena Savva Phenotypes for gene: DNAJB2 were changed from HMSN, dHMN/dSMA; Spinal muscular atrophy, distal, autosomal recessive, 5, MIM#614881; MONDO:0014866 to Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)
Hereditary Neuropathy_CMT - isolated v1.33 DNAJB2 Lauren Rogers reviewed gene: DNAJB2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881); Mode of inheritance: None
Hereditary Neuropathy_CMT - isolated v1.33 DGAT2 Zornitza Stark Phenotypes for gene: DGAT2 were changed from HMSN; Autosomal dominant Charcot-Marie-Tooth disease type 2 to Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related
Hereditary Neuropathy_CMT - isolated v1.32 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from Distal hereditary motor neuropathy to Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528
Hereditary Neuropathy_CMT - isolated v1.31 SPTAN1 Zornitza Stark edited their review of gene: SPTAN1: Changed phenotypes: Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528
Hereditary Neuropathy_CMT - isolated v1.31 DHX9 Zornitza Stark Marked gene: DHX9 as ready
Hereditary Neuropathy_CMT - isolated v1.31 DHX9 Zornitza Stark Gene: dhx9 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.31 DHX9 Zornitza Stark Classified gene: DHX9 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v1.31 DHX9 Zornitza Stark Gene: dhx9 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.30 DHX9 Zornitza Stark gene: DHX9 was added
gene: DHX9 was added to Hereditary Neuropathy_CMT - isolated. Sources: 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
Review for gene: DHX9 was set to GREEN
Added comment: PMID:37467750 - 17 unrelated individuals were identified with de novo, ultra-rare, heterozygous missense or loss-of-function DHX9 variants, of which 14 individuals were reported with a neurodevelopmental disorder (NDD) and three were reported with Charcot-Marie-Tooth disease (CMT). All 14 cases with NDD had developmental delay, of which eight were reported with intellectual disability (4 severe, 1 moderate, 3 mild). Two cases did not have ID, one had borderline ID and three cases were too young (0-5 years old). The three cases with CMT presented with adult-onset axonal neuropathy.

LoF variants caused mild NDD phenotypes and nuclear localization signal (NLS) missense variants caused severe NDD. CMT2-associated missense variants caused aberrant nucleolar DHX9 accumulation, a phenomenon previously associated with cellular stress.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v1.29 SPTLC1 Zornitza Stark Phenotypes for gene: SPTLC1 were changed from HSAN/SFN; Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IA, 162400 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_CMT - isolated v1.28 SPTLC1 Zornitza Stark edited their review of gene: SPTLC1: Changed phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400, Juvenile amyotrophic lateral sclerosis-27, MIM#620285
Hereditary Neuropathy_CMT - isolated v1.28 PCK2 Bryony Thompson Marked gene: PCK2 as ready
Hereditary Neuropathy_CMT - isolated v1.28 PCK2 Bryony Thompson Gene: pck2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v1.28 PCK2 Bryony Thompson Classified gene: PCK2 as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v1.28 PCK2 Bryony Thompson Gene: pck2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v1.26 PCK2 Bryony Thompson gene: PCK2 was added
gene: PCK2 was added to Hereditary Neuropathy_CMT - isolated. Sources: 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_CMT - isolated v1.25 Zornitza Stark HPO terms changed from to Peripheral neuropathy, HP:0009830
List of related panels changed from to Peripheral neuropathy; HP:0009830
Hereditary Neuropathy_CMT - isolated v1.24 ITPR3 Zornitza Stark Phenotypes for gene: ITPR3 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111
Hereditary Neuropathy_CMT - isolated v1.23 ITPR3 Zornitza Stark Publications for gene: ITPR3 were set to 32949214
Hereditary Neuropathy_CMT - isolated v1.22 ITPR3 Zornitza Stark Classified gene: ITPR3 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v1.22 ITPR3 Zornitza Stark Gene: itpr3 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.21 ITPR3 Zornitza Stark edited their review of gene: ITPR3: Added comment: Additional family with 3 individuals in 2 generations reported in PMID 24627108.; Changed rating: GREEN; Changed publications: 32949214, 24627108; Changed phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111
Hereditary Neuropathy_CMT - isolated v1.21 FICD Alison Yeung Marked gene: FICD as ready
Hereditary Neuropathy_CMT - isolated v1.21 FICD Alison Yeung Gene: ficd has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.21 FICD Alison Yeung Classified gene: FICD as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v1.21 FICD Alison Yeung Gene: ficd has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.20 FICD Alison Yeung gene: FICD was added
gene: FICD was added to Hereditary Neuropathy_CMT - isolated. Sources: 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 Hereditary motor neurone disease, FICD-related, MONDO:0024257
Review for gene: FICD was set to GREEN
Added comment: Three unrelated families with recurrent homozygous missense variant: p.Arg374His
One further family with Chet variants: p.Arg 374His and p.Gly370GlufsTer53

Fibroblasts from patients with FICD variants have abnormally increased levels of AMPylated and thus inactivated BiP.

Onset of symptoms in childhood with progressive course. Presentation with severe lower limb spasticity and mild upper limb spascticity, nerve conduction test shows motor neuropathy.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v1.19 SARS Seb Lunke Marked gene: SARS as ready
Hereditary Neuropathy_CMT - isolated v1.19 SARS Seb Lunke Added comment: Comment when marking as ready: potentially specific to the aminoacylation domain
Hereditary Neuropathy_CMT - isolated v1.19 SARS Seb Lunke Gene: sars has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.19 SARS Seb Lunke Classified gene: SARS as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v1.19 SARS Seb Lunke Gene: sars has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.18 SARS Ee Ming Wong gene: SARS was added
gene: SARS was added to Hereditary Neuropathy_CMT - isolated. Sources: 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
Review for gene: SARS was set to GREEN
gene: SARS was marked as current diagnostic
Added comment: -Two missense variants within the aminoacylation domain identified in 16 affected individuals from 3 distinct CMT families
-Mutant SerRS proteins exhibited reduced aminoacylation activity and abnormal SerRS dimerization, which suggests the impairment of total protein synthesis and induction of eIF2α phosphorylation
Sources: Literature
Hereditary Neuropathy_CMT - isolated v1.18 REEP1 Zornitza Stark Phenotypes for gene: REEP1 were changed from Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250; Charcot-Marie-Tooth; severe congenital distal SMA with diaphragmatic paralysis; congenital axonal neuropathy and diaphragmatic palsy 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
Hereditary Neuropathy_CMT - isolated v1.17 REEP1 Zornitza Stark reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v1.17 NRG1 Zornitza Stark Marked gene: NRG1 as ready
Hereditary Neuropathy_CMT - isolated v1.17 NRG1 Zornitza Stark Gene: nrg1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v1.17 NRG1 Zornitza Stark gene: NRG1 was added
gene: NRG1 was added to Hereditary Neuropathy_CMT - isolated. Sources: Expert Review
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
Review for gene: NRG1 was set to RED
Added comment: 1 female with consanguineous parents with distal muscle weakness starting age 20, progressively worsening, described as a peripheral neuropathy. Has a homozygous missense, 23 hets in gnomad. Proband has a sister who is also mildly affected, cramps and numbness in legs and feet. She is also homozygous for the variant. All 8 healthy family members that were tested were either only het or were hom for the WT allele.

13 other hom variants were identified in the proband, 11 were ruled out based on homs in gnomad, genes associated with off phenotype conditions, or non-segregation within the family. 2 variants in ZFHX4 and DMTN did cosegregate with disease. These 2 gene have limited reports/functional studies for off phenotype conditions so the NRG1 variant was thought to be the best match.

In a homozygous null NGR1 zebrafish, the variant identified in this individual was not able to rescue the phenotype compared to WT.
Sources: Expert Review
Hereditary Neuropathy_CMT - isolated v1.16 SCO2 Bryony Thompson Classified gene: SCO2 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v1.16 SCO2 Bryony Thompson Gene: sco2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.15 SCO2 Bryony Thompson Publications for gene: SCO2 were set to 29351582
Hereditary Neuropathy_CMT - isolated v1.14 SCO2 Bryony Thompson Phenotypes for gene: SCO2 were changed from Charcot-Marie-Tooth disease type 4; dHMN/dSMA to autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850
Hereditary Neuropathy_CMT - isolated v1.13 SCO2 Bryony Thompson edited their review of gene: SCO2: Added comment: Now 6 individuals from 4 families with compound heterozygous or homozygous missense variants (p.Glu140Lys and p.Pro169Thr; p.Arg171Gln and p.Asp135Gly; p.Arg255Trp; p.Gly121Arg) and an axonal CMT phenotype without the fatal infantile cardioencephalomyopathy phenotype also associated with SCO2 deficiency.; Changed rating: GREEN; Changed publications: 29351582, 31844624, 35112411; Changed phenotypes: autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850
Hereditary Neuropathy_CMT - isolated v1.13 KIF1B Zornitza Stark Publications for gene: KIF1B were set to
Hereditary Neuropathy_CMT - isolated v1.12 KIF1B Zornitza Stark Mode of inheritance for gene: KIF1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.11 KIF1B Zornitza Stark Classified gene: KIF1B as Red List (low evidence)
Hereditary Neuropathy_CMT - isolated v1.11 KIF1B Zornitza Stark Gene: kif1b has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v1.10 KIF1B Zornitza Stark reviewed gene: KIF1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2A1 MIM#118210; Mode of inheritance: None
Hereditary Neuropathy_CMT - isolated v1.10 JAG1 Zornitza Stark changed review comment from: Two unrelated families reported with CMT type 2. Affected individuals in both families exhibited severe vocal fold paresis, a rare feature of peripheral nerve disease that can be life-threatening. Studies of mutant protein posttranslational modification and localization indicated that the mutations (p.Ser577Arg, p.Ser650Pro) impair protein glycosylation and reduce JAG1 cell surface expression. Mice harboring heterozygous CMT2-associated mutations exhibited mild peripheral neuropathy, and homozygous expression resulted in embryonic lethality by midgestation. Pre-existing rat model.
Sources: Literature; to: Two unrelated families reported with CMT type 2, 9 affected individuals. Affected individuals in both families exhibited severe vocal fold paresis, a rare feature of peripheral nerve disease that can be life-threatening. Studies of mutant protein posttranslational modification and localization indicated that the mutations (p.Ser577Arg, p.Ser650Pro) impair protein glycosylation and reduce JAG1 cell surface expression. Mice harboring heterozygous CMT2-associated mutations exhibited mild peripheral neuropathy, and homozygous expression resulted in embryonic lethality by midgestation. Pre-existing rat model.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v1.10 JAG1 Zornitza Stark edited their review of gene: JAG1: Changed phenotypes: Charcot-Marie-Tooth disease, axonal, type 2HH 619574, Peripheral neuropathy
Hereditary Neuropathy_CMT - isolated v1.10 GBF1 Zornitza Stark Phenotypes for gene: GBF1 were changed from Axonal Neuropathy to Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Axonal Neuropathy
Hereditary Neuropathy_CMT - isolated v1.9 GBF1 Zornitza Stark reviewed gene: GBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.9 COX20 Zornitza Stark Marked gene: COX20 as ready
Hereditary Neuropathy_CMT - isolated v1.9 COX20 Zornitza Stark Gene: cox20 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.9 COX20 Zornitza Stark Classified gene: COX20 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v1.9 COX20 Zornitza Stark Gene: cox20 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.8 COX20 Zornitza Stark reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751098; Phenotypes: Neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v1.8 COX20 Hazel Phillimore changed review comment from: Eight unrelated families carried the Chinese Han founder variant c.41A>G., p.(Lys14Arg) in either homozygous or compound heterozygous state with another variant. (This variant is predicted to cause aberrant splicing by abolishing the donor splice site of exon 1).
Three homozygous for p.(Lys14Arg), two compound heterozygous with p.(Trp74Cys), the others with p.(Ser33Leu), c.157+7A>G, or p.(Gln87*)
All patients displayed sensory ataxia, with early to juvenile age of onset from 1 to 17 years.
The clinical presentations of these patients showed some overlaps in central and peripheral nervous systems. However, our patients presented predominant proprioceptive sensory loss and sensory ataxia rather than a multisystem neurological impairment. Initial symptoms: difficulty walking, bilateral foot deformity.
Patient’s fibroblasts and transfected cell lines showed reduction of COX20 protein consistent with a loss-of-function mechanism, and reduced complex IV assembly, enzyme activity and oxygen consumption rate which is consistent with mitochondrial dysfunction..
Sources: Literature; to: Eight unrelated families carried the Chinese Han founder variant c.41A>G., p.(Lys14Arg) in either homozygous or compound heterozygous state with another variant. (This variant is predicted to cause aberrant splicing by abolishing the donor splice site of exon 1).
Three homozygous for p.(Lys14Arg), two compound heterozygous with p.(Trp74Cys), the others with p.(Ser33Leu), c.157+7A>G, or p.(Gln87*)
All patients displayed sensory ataxia, with early to juvenile age of onset from 1 to 17 years.
The clinical presentations of these patients showed some overlap in central and peripheral nervous systems. They presented with predominant proprioceptive sensory loss and sensory ataxia rather than a multisystem neurological impairment. Initial symptoms: difficulty walking, bilateral foot deformity.
Patient’s fibroblasts and transfected cell lines showed reduction of COX20 protein consistent with a loss-of-function mechanism, and reduced complex IV assembly, enzyme activity and oxygen consumption rate which is consistent with mitochondrial dysfunction..
Sources: Literature
Hereditary Neuropathy_CMT - isolated v1.8 COX20 Hazel Phillimore gene: COX20 was added
gene: COX20 was added to Hereditary Neuropathy_CMT - isolated. Sources: 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
Review for gene: COX20 was set to GREEN
Added comment: Eight unrelated families carried the Chinese Han founder variant c.41A>G., p.(Lys14Arg) in either homozygous or compound heterozygous state with another variant. (This variant is predicted to cause aberrant splicing by abolishing the donor splice site of exon 1).
Three homozygous for p.(Lys14Arg), two compound heterozygous with p.(Trp74Cys), the others with p.(Ser33Leu), c.157+7A>G, or p.(Gln87*)
All patients displayed sensory ataxia, with early to juvenile age of onset from 1 to 17 years.
The clinical presentations of these patients showed some overlaps in central and peripheral nervous systems. However, our patients presented predominant proprioceptive sensory loss and sensory ataxia rather than a multisystem neurological impairment. Initial symptoms: difficulty walking, bilateral foot deformity.
Patient’s fibroblasts and transfected cell lines showed reduction of COX20 protein consistent with a loss-of-function mechanism, and reduced complex IV assembly, enzyme activity and oxygen consumption rate which is consistent with mitochondrial dysfunction..
Sources: Literature
Hereditary Neuropathy_CMT - isolated v1.8 CADM3 Zornitza Stark Phenotypes for gene: CADM3 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519
Hereditary Neuropathy_CMT - isolated v1.7 CADM3 Zornitza Stark reviewed gene: CADM3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.7 VCP Zornitza Stark Publications for gene: VCP were set to
Hereditary Neuropathy_CMT - isolated v1.6 VCP Zornitza Stark Phenotypes for gene: VCP were changed from Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; HMSN; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1; Charcot-Marie-Tooth disease, type 2Y to Charcot-Marie-Tooth disease, type 2Y, MIM# 616687
Hereditary Neuropathy_CMT - isolated v1.5 VCP Zornitza Stark Mode of pathogenicity for gene: VCP was changed from to Other
Hereditary Neuropathy_CMT - isolated v1.4 VCP Zornitza Stark Classified gene: VCP as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v1.4 VCP Zornitza Stark Gene: vcp has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.3 VCP Kristin Rigbye reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32165109; Phenotypes: Charcot-Marie-Tooth disease, type 2Y (MIM#616687), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.3 ARHGEF10 Bryony Thompson Classified gene: ARHGEF10 as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v1.3 ARHGEF10 Bryony Thompson Gene: arhgef10 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v1.2 ARHGEF10 Bryony Thompson reviewed gene: ARHGEF10: Rating: AMBER; Mode of pathogenicity: Other; Publications: 14508709, 21719701, 25025039, 29456827, 25275565; Phenotypes: Slowed nerve conduction velocity, AD MIM#608236; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.2 IQGAP3 Zornitza Stark Marked gene: IQGAP3 as ready
Hereditary Neuropathy_CMT - isolated v1.2 IQGAP3 Zornitza Stark Gene: iqgap3 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v1.2 IQGAP3 Zornitza Stark gene: IQGAP3 was added
gene: IQGAP3 was added to Hereditary Neuropathy_CMT - isolated. Sources: 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
Review for gene: IQGAP3 was set to RED
Added comment: Single multiplex family reported with intronic variant and limited functional data.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v1.1 CADM3 Sue White Marked gene: CADM3 as ready
Hereditary Neuropathy_CMT - isolated v1.1 CADM3 Sue White Gene: cadm3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v1.1 CADM3 Sue White Classified gene: CADM3 as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v1.1 CADM3 Sue White Gene: cadm3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v1.0 CADM3 Teresa Zhao gene: CADM3 was added
gene: CADM3 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature
Mode of inheritance for gene: CADM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CADM3 were set to PMID: 33889941
Phenotypes for gene: CADM3 were set to Charcot-Marie-Tooth disease
Penetrance for gene: CADM3 were set to unknown
Review for gene: CADM3 was set to AMBER
Added comment: Three families reported with the same missense variant in CADM3, p.Tyr172Cys (one family de novo), with mice work to show reduced expression of the mutant protein in axons and abnormal axonal organization.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v1.0 Zornitza Stark promoted panel to version 1.0
Hereditary Neuropathy_CMT - isolated v0.208 KLHL13 Zornitza Stark Marked gene: KLHL13 as ready
Hereditary Neuropathy_CMT - isolated v0.208 KLHL13 Zornitza Stark Gene: klhl13 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v0.208 KLHL13 Zornitza Stark Mode of inheritance for gene: KLHL13 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy_CMT - isolated v0.207 WNK1 Zornitza Stark Marked gene: WNK1 as ready
Hereditary Neuropathy_CMT - isolated v0.207 WNK1 Zornitza Stark Gene: wnk1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.207 WNK1 Zornitza Stark Phenotypes for gene: WNK1 were changed from HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492 to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300; MONDO:0024309
Hereditary Neuropathy_CMT - isolated v0.206 WNK1 Zornitza Stark Publications for gene: WNK1 were set to
Hereditary Neuropathy_CMT - isolated v0.205 WNK1 Zornitza Stark reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15060842, 15911806, 15455397, 16534117; Phenotypes: Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300, MONDO:0024309; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.205 PRX Zornitza Stark Marked gene: PRX as ready
Hereditary Neuropathy_CMT - isolated v0.205 PRX Zornitza Stark Gene: prx has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.205 PRX Zornitza Stark Publications for gene: PRX were set to
Hereditary Neuropathy_CMT - isolated v0.204 PRX Zornitza Stark changed review comment from: Both mono-allelic and bi-allelic variants are associated with neuropathy.; to: Predominantly bi-allelic variants are associated with neuropathy, rare reports of mono-allelic variants.
Hereditary Neuropathy_CMT - isolated v0.204 PRX Zornitza Stark reviewed gene: PRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11133365, 11157804, 15197604, 21079185, 22847150, 10839370, 32460404, 31523542, 31426691; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.204 PRPS1 Zornitza Stark Marked gene: PRPS1 as ready
Hereditary Neuropathy_CMT - isolated v0.204 PRPS1 Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.204 PRPS1 Zornitza Stark Mode of inheritance for gene: PRPS1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy_CMT - isolated v0.203 PRPS1 Zornitza Stark Publications for gene: PRPS1 were set to
Hereditary Neuropathy_CMT - isolated v0.202 PRPS1 Zornitza Stark reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17701900, 24285972, 25491489, 25182139; Phenotypes: Charcot-Marie-Tooth disease, X-linked recessive, 5, MIM# 311070; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy_CMT - isolated v0.202 PLEKHG5 Zornitza Stark Marked gene: PLEKHG5 as ready
Hereditary Neuropathy_CMT - isolated v0.202 PLEKHG5 Zornitza Stark Gene: plekhg5 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.202 PLEKHG5 Zornitza Stark Phenotypes for gene: PLEKHG5 were changed from HMSN, dHMN/dSMA; Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 to HMSN, dHMN/dSMA; Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067
Hereditary Neuropathy_CMT - isolated v0.201 PLEKHG5 Zornitza Stark Publications for gene: PLEKHG5 were set to
Hereditary Neuropathy_CMT - isolated v0.200 PLEKHG5 Zornitza Stark reviewed gene: PLEKHG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564964, 23777631, 23844677, 33492783, 33275839, 33220101, 23777631; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376, Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.200 NEFL Zornitza Stark Marked gene: NEFL as ready
Hereditary Neuropathy_CMT - isolated v0.200 NEFL Zornitza Stark Gene: nefl has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.200 NEFL Zornitza Stark Publications for gene: NEFL were set to
Hereditary Neuropathy_CMT - isolated v0.199 NEFL Zornitza Stark reviewed gene: NEFL: Rating: GREEN; Mode of pathogenicity: None; Publications: 10841809, 12393795, 14733962, 24887401, 25877835, 20039262, 12566280, 29191368, 28902413; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882, Charcot-Marie-Tooth disease, type 1F, MIM# 607734, Charcot-Marie-Tooth disease, type 2E 607684; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.199 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Hereditary Neuropathy_CMT - isolated v0.199 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.199 MORC2 Zornitza Stark Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, 616688; HMSN to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; MONDO:0014736
Hereditary Neuropathy_CMT - isolated v0.198 MORC2 Zornitza Stark Publications for gene: MORC2 were set to
Hereditary Neuropathy_CMT - isolated v0.197 MORC2 Zornitza Stark Mode of inheritance for gene: MORC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.196 MORC2 Zornitza Stark edited their review of gene: MORC2: Changed phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688, MONDO:0014736
Hereditary Neuropathy_CMT - isolated v0.196 MORC2 Zornitza Stark reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26497905, 26659848, 28771897, 27105897; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.196 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Hereditary Neuropathy_CMT - isolated v0.196 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.196 DYNC1H1 Zornitza Stark Phenotypes for gene: DYNC1H1 were changed from HMSN, dHMN/dSMA; Spinal muscular atrophy, lower extremity predominant, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot Marie Tooth disease, axonal, type 20, 614228 to Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228
Hereditary Neuropathy_CMT - isolated v0.195 DYNC1H1 Zornitza Stark Publications for gene: DYNC1H1 were set to
Hereditary Neuropathy_CMT - isolated v0.194 DYNC1H1 Zornitza Stark Mode of inheritance for gene: DYNC1H1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.193 DYNC1H1 Zornitza Stark reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21820100, 32788638, 27549087; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.193 LMNA Zornitza Stark Marked gene: LMNA as ready
Hereditary Neuropathy_CMT - isolated v0.193 LMNA Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.193 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from Malouf syndrome, 212112; Heart hand syndrome, Slovenian type, 610140; Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Hutchinson Gilford progeria, 176670; Charcot Marie Tooth disease, type 2B1, 605588; Lipodystrophy, familial partial, 2, 151660; Mandibuloacral dysplasia, 248370; Cardiomyopathy, dilated, 1A, 115200; Emery Dreifuss muscular dystrophy 3, AR, 181350; Restrictive dermopathy, lethal, 275210; Emery Dreifuss muscular dystrophy 2, AD, 181350; HMSN to Charcot-Marie-Tooth disease, type 2B1 , MIM#605588
Hereditary Neuropathy_CMT - isolated v0.192 LMNA Zornitza Stark Publications for gene: LMNA were set to
Hereditary Neuropathy_CMT - isolated v0.191 LMNA Zornitza Stark Classified gene: LMNA as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v0.191 LMNA Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.190 LMNA Zornitza Stark changed review comment from: Founder variant p.Arg298Cys (c.892C>T) reported in 3 families, supportive functional data, plus another case reported as part of a large CMT cohort.; to: Founder variant p.Arg298Cys (c.892C>T) reported in 3 families, supportive functional data, plus another case reported as part of a large CMT cohort

Note mono allelic variants in this gene cause a range of phenotypes.
Hereditary Neuropathy_CMT - isolated v0.190 LMNA Zornitza Stark reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: None; Publications: 11799477, 28902413; Phenotypes: Charcot-Marie-Tooth disease, type 2B1 , MIM#605588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.190 DNM2 Zornitza Stark Marked gene: DNM2 as ready
Hereditary Neuropathy_CMT - isolated v0.190 DNM2 Zornitza Stark Gene: dnm2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.190 DNM2 Zornitza Stark Phenotypes for gene: DNM2 were changed from HMSN; Myopathy, centronuclear, 160150; Lethal congenital contracture syndrome 5, 615368; Charcot Marie Tooth disease, axonal, type 2M, 606482 to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674
Hereditary Neuropathy_CMT - isolated v0.189 DNM2 Zornitza Stark Publications for gene: DNM2 were set to
Hereditary Neuropathy_CMT - isolated v0.188 DNM2 Zornitza Stark edited their review of gene: DNM2: Changed phenotypes: Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482, Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482, MONDO:0011674
Hereditary Neuropathy_CMT - isolated v0.188 DNM2 Zornitza Stark reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15731758, 17636067, 33459893, 31628461; Phenotypes: Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482, Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.188 DCTN1 Zornitza Stark Marked gene: DCTN1 as ready
Hereditary Neuropathy_CMT - isolated v0.188 DCTN1 Zornitza Stark Gene: dctn1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.188 DCTN1 Zornitza Stark Phenotypes for gene: DCTN1 were changed from HMSN, dHMN/dSMA; Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641 to Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641; MONDO:0011879
Hereditary Neuropathy_CMT - isolated v0.187 DCTN1 Zornitza Stark Publications for gene: DCTN1 were set to
Hereditary Neuropathy_CMT - isolated v0.186 DCTN1 Zornitza Stark reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12627231, 15326253, 33443672, 32023010, 27573046; Phenotypes: Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641, MONDO:0011879; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.186 DNAJB2 Zornitza Stark Marked gene: DNAJB2 as ready
Hereditary Neuropathy_CMT - isolated v0.186 DNAJB2 Zornitza Stark Gene: dnajb2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.186 DNAJB2 Zornitza Stark Phenotypes for gene: DNAJB2 were changed from HMSN, dHMN/dSMA; Spinal muscular atrophy, distal, autosomal recessive, 5, MIM#614881 to HMSN, dHMN/dSMA; Spinal muscular atrophy, distal, autosomal recessive, 5, MIM#614881; MONDO:0014866
Hereditary Neuropathy_CMT - isolated v0.185 DNAJB2 Zornitza Stark Publications for gene: DNAJB2 were set to
Hereditary Neuropathy_CMT - isolated v0.184 DNAJB2 Zornitza Stark edited their review of gene: DNAJB2: Changed phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 5, MIM# 614881, MONDO:0014866
Hereditary Neuropathy_CMT - isolated v0.184 DNAJB2 Zornitza Stark reviewed gene: DNAJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522442, 25274842, 33369814, 22522442; Phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 5, MIM# 614881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.184 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Hereditary Neuropathy_CMT - isolated v0.184 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.184 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from Spinal muscular atrophy, distal, X-linked 3; dHMN/dSMA to Spinal muscular atrophy, distal, X-linked 3, MIM# 300489; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.183 ATP7A Zornitza Stark Publications for gene: ATP7A were set to
Hereditary Neuropathy_CMT - isolated v0.182 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20170900, 33137485, 31969342, 31558336; Phenotypes: Spinal muscular atrophy, distal, X-linked 3, MIM# 300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy_CMT - isolated v0.182 ATP1A1 Zornitza Stark Marked gene: ATP1A1 as ready
Hereditary Neuropathy_CMT - isolated v0.182 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.182 ATP1A1 Zornitza Stark Phenotypes for gene: ATP1A1 were changed from Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 to Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036; MONDO:0054833
Hereditary Neuropathy_CMT - isolated v0.181 ATP1A1 Zornitza Stark Publications for gene: ATP1A1 were set to
Hereditary Neuropathy_CMT - isolated v0.180 ATP1A1 Zornitza Stark Mode of inheritance for gene: ATP1A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.179 ATP1A1 Zornitza Stark reviewed gene: ATP1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29499166; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2DD, MIM# 618036; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.179 SCN11A Zornitza Stark Marked gene: SCN11A as ready
Hereditary Neuropathy_CMT - isolated v0.179 SCN11A Zornitza Stark Gene: scn11a has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.179 SCN11A Zornitza Stark Phenotypes for gene: SCN11A were changed from Episodic pain syndrome, familial, 3, 615552; HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type VII, 615548 to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; MONDO:0014244
Hereditary Neuropathy_CMT - isolated v0.178 SCN11A Zornitza Stark Publications for gene: SCN11A were set to
Hereditary Neuropathy_CMT - isolated v0.177 SCN11A Zornitza Stark reviewed gene: SCN11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24036948, 25118027, 30395542, 33884296, 32831372, 30046661; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.177 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Hereditary Neuropathy_CMT - isolated v0.177 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.177 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to
Hereditary Neuropathy_CMT - isolated v0.176 RETREG1 Zornitza Stark edited their review of gene: RETREG1: Changed phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142
Hereditary Neuropathy_CMT - isolated v0.176 RETREG1 Zornitza Stark edited their review of gene: RETREG1: Changed publications: 19838196, 24327336, 31737055, 31596031
Hereditary Neuropathy_CMT - isolated v0.176 RETREG1 Zornitza Stark reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.176 SBF1 Zornitza Stark Marked gene: SBF1 as ready
Hereditary Neuropathy_CMT - isolated v0.176 SBF1 Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.176 SBF1 Zornitza Stark Phenotypes for gene: SBF1 were changed from Charcot-Marie-Tooth disease, type 4B3, 615284; HMSN to Charcot-Marie-Tooth disease, type 4B3 , MIM#615284; MONDO:0014117
Hereditary Neuropathy_CMT - isolated v0.175 SBF1 Zornitza Stark Publications for gene: SBF1 were set to
Hereditary Neuropathy_CMT - isolated v0.174 SBF1 Zornitza Stark reviewed gene: SBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23749797, 23749797, 32444983, 30039846, 28005197; Phenotypes: Charcot-Marie-Tooth disease, type 4B3 , MIM#615284, MONDO:0014117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.174 SBF2 Zornitza Stark Marked gene: SBF2 as ready
Hereditary Neuropathy_CMT - isolated v0.174 SBF2 Zornitza Stark Gene: sbf2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.174 SBF2 Zornitza Stark Phenotypes for gene: SBF2 were changed from HMSN; Charcot Marie Tooth disease, type 4B2, 604563 to HMSN; Charcot Marie Tooth disease, type 4B2, MIM#604563
Hereditary Neuropathy_CMT - isolated v0.173 SBF2 Zornitza Stark Publications for gene: SBF2 were set to
Hereditary Neuropathy_CMT - isolated v0.172 SBF2 Zornitza Stark reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12554688, 15477569, 12687498, 15304601, 31772832, 31070812; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 , MIM#604563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.172 SCN10A Zornitza Stark Marked gene: SCN10A as ready
Hereditary Neuropathy_CMT - isolated v0.172 SCN10A Zornitza Stark Gene: scn10a has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.172 SCN10A Zornitza Stark Publications for gene: SCN10A were set to
Hereditary Neuropathy_CMT - isolated v0.171 SCN10A Zornitza Stark reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23115331, 33775738, 30731422, 30554136; Phenotypes: Episodic pain syndrome, familial, 2, MIM# 615551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.171 SCN9A Zornitza Stark Marked gene: SCN9A as ready
Hereditary Neuropathy_CMT - isolated v0.171 SCN9A Zornitza Stark Gene: scn9a has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.171 SCN9A Zornitza Stark Phenotypes for gene: SCN9A were changed from Erythermalgia, primary; Hereditary sensory and autonomic neuropathy type IID; HSAN/SFN 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_CMT - isolated v0.170 SCN9A Zornitza Stark reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 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; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Marked gene: SEPT9 as ready
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is SEPTIN9.
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Gene: sept9 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Tag new gene name tag was added to gene: SEPT9.
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Tag SV/CNV tag was added to gene: SEPT9.
Tag 5'UTR tag was added to gene: SEPT9.
Tag founder tag was added to gene: SEPT9.
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Marked gene: SEPT9 as ready
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Gene: sept9 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Phenotypes for gene: SEPT9 were changed from Amyotrophy, hereditary neuralgic; HMSN to Amyotrophy, hereditary neuralgic, MIM# 162100; HMSN
Hereditary Neuropathy_CMT - isolated v0.169 SEPT9 Zornitza Stark Publications for gene: SEPT9 were set to
Hereditary Neuropathy_CMT - isolated v0.168 SEPT9 Zornitza Stark Mode of inheritance for gene: SEPT9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.167 SEPT9 Zornitza Stark reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16186812, 19451530, 19939853, 19139049; Phenotypes: Amyotrophy, hereditary neuralgic, MIM# 162100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.167 SLC5A7 Zornitza Stark Marked gene: SLC5A7 as ready
Hereditary Neuropathy_CMT - isolated v0.167 SLC5A7 Zornitza Stark Gene: slc5a7 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.167 SLC5A7 Zornitza Stark Phenotypes for gene: SLC5A7 were changed from Neuronopathy, distal hereditary motor, type VIIA to Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024
Hereditary Neuropathy_CMT - isolated v0.166 SLC5A7 Zornitza Stark Publications for gene: SLC5A7 were set to
Hereditary Neuropathy_CMT - isolated v0.165 SLC5A7 Zornitza Stark edited their review of gene: SLC5A7: Changed phenotypes: Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580, MONDO:0008024
Hereditary Neuropathy_CMT - isolated v0.165 SLC5A7 Zornitza Stark reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23141292, 15173594, 29782645, 29582019; Phenotypes: Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.165 DHTKD1 Zornitza Stark changed review comment from: Comment on list classification: Two unrelated families and animal model.; to: Comment on list classification: Two unrelated families and animal model. Note bi-allelic variants are associated with a metabolic disorder.
Hereditary Neuropathy_CMT - isolated v0.165 DHTKD1 Zornitza Stark Mode of inheritance for gene: DHTKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.164 DHTKD1 Zornitza Stark Marked gene: DHTKD1 as ready
Hereditary Neuropathy_CMT - isolated v0.164 DHTKD1 Zornitza Stark Gene: dhtkd1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.164 DHTKD1 Zornitza Stark Publications for gene: DHTKD1 were set to
Hereditary Neuropathy_CMT - isolated v0.163 SMN1 Zornitza Stark Marked gene: SMN1 as ready
Hereditary Neuropathy_CMT - isolated v0.163 SMN1 Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.163 SMN1 Zornitza Stark Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy 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_CMT - isolated v0.162 SMN1 Zornitza Stark Tag SV/CNV tag was added to gene: SMN1.
Hereditary Neuropathy_CMT - isolated v0.162 SMN1 Zornitza Stark reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy-1, MIM# 253300, Spinal muscular atrophy-2, MIM# 253550, Spinal muscular atrophy-3, MIM# 253400, Spinal muscular atrophy-4, MIM# 271150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.162 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Hereditary Neuropathy_CMT - isolated v0.162 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.162 SPG11 Zornitza Stark Phenotypes for gene: SPG11 were changed from HMSN; Hereditary Neuropathies; axonal Charcot-Marie-Tooth disease type 2X to HMSN; Hereditary Neuropathies; axonal Charcot-Marie-Tooth disease type 2X; MONDO:0014726
Hereditary Neuropathy_CMT - isolated v0.161 SPG11 Zornitza Stark Publications for gene: SPG11 were set to
Hereditary Neuropathy_CMT - isolated v0.160 SPG11 Zornitza Stark edited their review of gene: SPG11: Changed phenotypes: Charcot-Marie-Tooth disease, axonal, type 2X, MIM# 616668, MONDO:0014726
Hereditary Neuropathy_CMT - isolated v0.160 SPG11 Zornitza Stark reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 26556829, 33581793; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2X, MIM# 616668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.160 SPTAN1 Zornitza Stark Marked gene: SPTAN1 as ready
Hereditary Neuropathy_CMT - isolated v0.160 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.160 SPTAN1 Zornitza Stark reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Distal hereditary motor neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.160 SPTLC1 Zornitza Stark Marked gene: SPTLC1 as ready
Hereditary Neuropathy_CMT - isolated v0.160 SPTLC1 Zornitza Stark Gene: sptlc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.160 SPTLC1 Zornitza Stark Publications for gene: SPTLC1 were set to
Hereditary Neuropathy_CMT - isolated v0.159 SPTLC1 Zornitza Stark Mode of inheritance for gene: SPTLC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.158 SPTLC1 Zornitza Stark reviewed gene: SPTLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11242114, 11242106, 15037712, 26681808; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.158 SPTLC2 Zornitza Stark Marked gene: SPTLC2 as ready
Hereditary Neuropathy_CMT - isolated v0.158 SPTLC2 Zornitza Stark Gene: sptlc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.158 SPTLC2 Zornitza Stark Phenotypes for gene: SPTLC2 were changed from Neuropathy, hereditary sensory and autonomic, type IC, 613640; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type IC, 613640; MONDO:0013337; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.157 SPTLC2 Zornitza Stark Publications for gene: SPTLC2 were set to
Hereditary Neuropathy_CMT - isolated v0.156 SPTLC2 Zornitza Stark Mode of inheritance for gene: SPTLC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.155 SPTLC2 Zornitza Stark reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20920666, 23658386, 31509666, 30866134; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.155 TRIM2 Zornitza Stark Marked gene: TRIM2 as ready
Hereditary Neuropathy_CMT - isolated v0.155 TRIM2 Zornitza Stark Gene: trim2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.155 TRIM2 Zornitza Stark Phenotypes for gene: TRIM2 were changed from Charcot-Marie-Tooth disease, type 2R, 615490; HMSN to Charcot-Marie-Tooth disease, type 2R, MIM# 615490; MONDO:0014208; HMSN
Hereditary Neuropathy_CMT - isolated v0.154 TRIM2 Zornitza Stark Publications for gene: TRIM2 were set to
Hereditary Neuropathy_CMT - isolated v0.153 TRIM2 Zornitza Stark reviewed gene: TRIM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562820, 25893792, 18687884, 32815244, 32205255, 25893792; Phenotypes: Charcot-Marie-Tooth disease, type 2R, MIM# 615490, MONDO:0014208; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.153 TRPV4 Zornitza Stark Marked gene: TRPV4 as ready
Hereditary Neuropathy_CMT - isolated v0.153 TRPV4 Zornitza Stark Gene: trpv4 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.153 TRPV4 Zornitza Stark Phenotypes for gene: TRPV4 were changed from HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, 606071 to HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175
Hereditary Neuropathy_CMT - isolated v0.152 TRPV4 Zornitza Stark Mode of inheritance for gene: TRPV4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.151 TRPV4 Zornitza Stark reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary motor and sensory neuropathy, type IIc, MIM# 606071, Neuronopathy, distal hereditary motor, type VIII, MIM# 600175; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.151 WARS Zornitza Stark Marked gene: WARS as ready
Hereditary Neuropathy_CMT - isolated v0.151 WARS Zornitza Stark Gene: wars has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.151 WARS Zornitza Stark Phenotypes for gene: WARS were changed from Neuronopathy, distal hereditary motor, type IX, 617721 to Neuronopathy, distal hereditary motor, type IX, MIM#617721
Hereditary Neuropathy_CMT - isolated v0.150 WARS Zornitza Stark Publications for gene: WARS were set to
Hereditary Neuropathy_CMT - isolated v0.149 WARS Zornitza Stark Mode of inheritance for gene: WARS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.148 WARS Zornitza Stark reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28369220, 31321409, 31069783; Phenotypes: Neuronopathy, distal hereditary motor, type IX, MIM# 617721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.148 YARS Zornitza Stark Marked gene: YARS as ready
Hereditary Neuropathy_CMT - isolated v0.148 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.148 YARS Zornitza Stark Phenotypes for gene: YARS were changed from Charcot Marie Tooth disease, dominant intermediate C, 608323; HMSN to Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323; MONDO:0012012
Hereditary Neuropathy_CMT - isolated v0.147 YARS Zornitza Stark Publications for gene: YARS were set to
Hereditary Neuropathy_CMT - isolated v0.146 YARS Zornitza Stark Mode of inheritance for gene: YARS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.145 YARS Zornitza Stark reviewed gene: YARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 16429158, 24354524, 31587308, 26725087; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323, MONDO:0012012; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.145 DGAT2 Zornitza Stark Marked gene: DGAT2 as ready
Hereditary Neuropathy_CMT - isolated v0.145 DGAT2 Zornitza Stark Gene: dgat2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.145 DGAT2 Zornitza Stark Mode of inheritance for gene: DGAT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.144 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Hereditary Neuropathy_CMT - isolated v0.144 SCO2 Zornitza Stark Gene: sco2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.144 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from ?Charcot-Marie-Tooth disease type 4; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; dHMN/dSMA to Charcot-Marie-Tooth disease type 4; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.143 SCO2 Zornitza Stark Publications for gene: SCO2 were set to
Hereditary Neuropathy_CMT - isolated v0.142 RAB7A Zornitza Stark Marked gene: RAB7A as ready
Hereditary Neuropathy_CMT - isolated v0.142 RAB7A Zornitza Stark Gene: rab7a has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.142 RAB7A Zornitza Stark Phenotypes for gene: RAB7A were changed from HMSN, HSAN/SFN; Charcot-Marie-Tooth disease, type 2B, 600882 to Charcot-Marie-Tooth disease, type 2B, MIM# 600882; MONDO:0010949
Hereditary Neuropathy_CMT - isolated v0.141 RAB7A Zornitza Stark Publications for gene: RAB7A were set to
Hereditary Neuropathy_CMT - isolated v0.140 RAB7A Zornitza Stark Mode of inheritance for gene: RAB7A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.139 RAB7A Zornitza Stark reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12545426, 17060578, 32326241, 29130394, 25614874; Phenotypes: Charcot-Marie-Tooth disease, type 2B, MIM# 600882, MONDO:0010949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.139 PRDM12 Zornitza Stark Marked gene: PRDM12 as ready
Hereditary Neuropathy_CMT - isolated v0.139 PRDM12 Zornitza Stark Gene: prdm12 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.139 PRDM12 Zornitza Stark Phenotypes for gene: PRDM12 were changed from hereditary sensory & autonomic neuropathy type VIII; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.138 PRDM12 Zornitza Stark Publications for gene: PRDM12 were set to
Hereditary Neuropathy_CMT - isolated v0.137 PRDM12 Zornitza Stark edited their review of gene: PRDM12: Changed phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662
Hereditary Neuropathy_CMT - isolated v0.137 PRDM12 Zornitza Stark reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.137 NGF Zornitza Stark Marked gene: NGF as ready
Hereditary Neuropathy_CMT - isolated v0.137 NGF Zornitza Stark Gene: ngf has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.137 NGF Zornitza Stark Phenotypes for gene: NGF were changed from HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type V, 608654 to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; MONDO:0012092
Hereditary Neuropathy_CMT - isolated v0.136 NGF Zornitza Stark Publications for gene: NGF were set to
Hereditary Neuropathy_CMT - isolated v0.135 NGF Zornitza Stark reviewed gene: NGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 14976160, 20978020, 33884296, 32693191, 31685654, 30296891; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654, MONDO:0012092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.135 NDRG1 Zornitza Stark Marked gene: NDRG1 as ready
Hereditary Neuropathy_CMT - isolated v0.135 NDRG1 Zornitza Stark Gene: ndrg1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.135 NDRG1 Zornitza Stark Phenotypes for gene: NDRG1 were changed from HMSN; Charcot Marie Tooth disease, type 4D, 601455 to HMSN; Charcot Marie Tooth disease, type 4D, 601455; MONDO:0011085
Hereditary Neuropathy_CMT - isolated v0.134 NDRG1 Zornitza Stark Publications for gene: NDRG1 were set to
Hereditary Neuropathy_CMT - isolated v0.133 NDRG1 Zornitza Stark Tag founder tag was added to gene: NDRG1.
Hereditary Neuropathy_CMT - isolated v0.133 NDRG1 Zornitza Stark reviewed gene: NDRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10831399, 24136616, 33334662, 29724652, 29174527, 28776325; Phenotypes: Charcot-Marie-Tooth disease, type 4D, MIM# 601455; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.133 MTMR2 Zornitza Stark Marked gene: MTMR2 as ready
Hereditary Neuropathy_CMT - isolated v0.133 MTMR2 Zornitza Stark Gene: mtmr2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.133 MTMR2 Zornitza Stark Phenotypes for gene: MTMR2 were changed from Charcot-Marie-Tooth disease, type 4B1, 601382; HMSN to Charcot-Marie-Tooth disease, type 4B1, 601382; HMSN; MONDO:0011066
Hereditary Neuropathy_CMT - isolated v0.132 MTMR2 Zornitza Stark Publications for gene: MTMR2 were set to
Hereditary Neuropathy_CMT - isolated v0.131 MTMR2 Zornitza Stark reviewed gene: MTMR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802647, 16249189, 33653949, 32586600, 32488727, 31680794; Phenotypes: Charcot-Marie-Tooth disease, type 4B1, MIM# 601382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.131 MPZ Zornitza Stark Marked gene: MPZ as ready
Hereditary Neuropathy_CMT - isolated v0.131 MPZ Zornitza Stark Gene: mpz has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.131 MPZ Zornitza Stark Phenotypes for gene: MPZ were changed from Charcot Marie Tooth disease, dominant intermediate D, 607791; Roussy Levy syndrome, 180800; 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 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_CMT - isolated v0.130 MPZ Zornitza Stark Publications for gene: MPZ were set to
Hereditary Neuropathy_CMT - isolated v0.129 MPZ Zornitza Stark Mode of inheritance for gene: MPZ was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.128 MPZ Zornitza Stark edited their review of gene: MPZ: Changed phenotypes: 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_CMT - isolated v0.128 MPZ Zornitza Stark edited their review of gene: MPZ: Changed phenotypes: Charcot Marie Tooth disease, dominant intermediate D, 607791, Roussy Levy syndrome, 180800, 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_CMT - isolated v0.128 MPZ Zornitza Stark reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 19293842; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.128 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Hereditary Neuropathy_CMT - isolated v0.128 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.128 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from HMSN; Charcot-Marie-Tooth disease, axonal, type 2EE to HMSN; Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Hereditary Neuropathy_CMT - isolated v0.127 MPV17 Zornitza Stark Publications for gene: MPV17 were set to
Hereditary Neuropathy_CMT - isolated v0.126 MPV17 Zornitza Stark reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22508010, 26437932, 30298599; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.126 MME Zornitza Stark Marked gene: MME as ready
Hereditary Neuropathy_CMT - isolated v0.126 MME Zornitza Stark Gene: mme has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.126 MME Zornitza Stark Phenotypes for gene: MME were changed from HMSN; Charcot-Marie-Tooth disease, axonal, type 2T, 617017 to Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017; MONDO:0014866
Hereditary Neuropathy_CMT - isolated v0.125 MME Zornitza Stark Publications for gene: MME were set to
Hereditary Neuropathy_CMT - isolated v0.124 MME Zornitza Stark Mode of inheritance for gene: MME was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.123 MME Zornitza Stark reviewed gene: MME: Rating: GREEN; Mode of pathogenicity: None; Publications: 26991897, 27588448, 33144514, 31429185; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017, MONDO:0014866; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.123 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Hereditary Neuropathy_CMT - isolated v0.123 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.123 MFN2 Zornitza Stark Phenotypes for gene: MFN2 were changed from Hereditary motor and sensory neuropathy VI, 601152; Charcot Marie Tooth disease, type 2A2, 609260; HMSN 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_CMT - isolated v0.122 MFN2 Zornitza Stark Publications for gene: MFN2 were set to
Hereditary Neuropathy_CMT - isolated v0.121 MFN2 Zornitza Stark reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15064763, 15549395, 16437557, 20008656; Phenotypes: 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; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.121 LRSAM1 Zornitza Stark Marked gene: LRSAM1 as ready
Hereditary Neuropathy_CMT - isolated v0.121 LRSAM1 Zornitza Stark Gene: lrsam1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.121 LRSAM1 Zornitza Stark Phenotypes for gene: LRSAM1 were changed from Charcot Marie Toothe disease, axonal, type 2P, 614436; HMSN to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; MONDO:0013753; HMSN
Hereditary Neuropathy_CMT - isolated v0.120 LRSAM1 Zornitza Stark Publications for gene: LRSAM1 were set to
Hereditary Neuropathy_CMT - isolated v0.119 LRSAM1 Zornitza Stark reviewed gene: LRSAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20865121, 22012984, 22781092, 27686364, 33568173, 33414056, 30996334; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436, MONDO:0013753; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.119 LITAF Zornitza Stark Marked gene: LITAF as ready
Hereditary Neuropathy_CMT - isolated v0.119 LITAF Zornitza Stark Gene: litaf has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.119 LITAF Zornitza Stark Phenotypes for gene: LITAF were changed from HMSN; Charcot Marie Tooth disease, type 1C, 601098 to Charcot-Marie-Tooth disease, type 1C, MIM# 601098; MONDO:0010995
Hereditary Neuropathy_CMT - isolated v0.118 LITAF Zornitza Stark Publications for gene: LITAF were set to
Hereditary Neuropathy_CMT - isolated v0.117 LITAF Zornitza Stark Mode of inheritance for gene: LITAF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.116 LITAF Zornitza Stark reviewed gene: LITAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 12525712, 19541485, 23359569, 32665875, 28211240; Phenotypes: Charcot-Marie-Tooth disease, type 1C, MIM# 601098, MONDO:0010995; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.116 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Hereditary Neuropathy_CMT - isolated v0.116 KIF5A Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.116 KIF5A Zornitza Stark Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant; Hereditary Neuropathies; HMSN to Hereditary Neuropathies; HMSN
Hereditary Neuropathy_CMT - isolated v0.115 KIF5A Zornitza Stark Publications for gene: KIF5A were set to
Hereditary Neuropathy_CMT - isolated v0.114 KIF5A Zornitza Stark reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057544, 29892902, 28902413, 26403765, 25695920, 25008398; Phenotypes: Neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.114 PMP22 Zornitza Stark Marked gene: PMP22 as ready
Hereditary Neuropathy_CMT - isolated v0.114 PMP22 Zornitza Stark Gene: pmp22 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.114 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Hereditary Neuropathy_CMT - isolated v0.114 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.114 KIF1A Zornitza Stark Publications for gene: KIF1A were set to
Hereditary Neuropathy_CMT - isolated v0.113 KIF1A Zornitza Stark reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21820098, 28708278; Phenotypes: Neuropathy, hereditary sensory, type IIC, MIM# 614213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.113 INF2 Zornitza Stark Marked gene: INF2 as ready
Hereditary Neuropathy_CMT - isolated v0.113 INF2 Zornitza Stark Gene: inf2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.113 INF2 Zornitza Stark Publications for gene: INF2 were set to
Hereditary Neuropathy_CMT - isolated v0.112 INF2 Zornitza Stark changed review comment from: Autosomal dominant intermediate Charcot-Marie-Tooth disease E with focal segmental glomerulonephritis is characterized by the neurologic features of CMT, including distal muscle weakness and atrophy and distal sensory loss, and the features of FSGS, including proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy.

Nine variants reported in 12 individuals. All were located in exons 2 and 3, which encode the diaphanous inhibitory domain (DID), and most of them were between nucleotides 300 and 500 in the second and third armadillo repeats. These variants were located in distinct areas from those associated with isolated FSGS5.; to: Autosomal dominant intermediate Charcot-Marie-Tooth disease E with focal segmental glomerulonephritis is characterized by the neurologic features of CMT, including distal muscle weakness and atrophy and distal sensory loss, and the features of FSGS, including proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy.

Nine variants reported in 12 individuals in the initial publication PMID 22187985. All were located in exons 2 and 3, which encode the diaphanous inhibitory domain (DID), and most of them were between nucleotides 300 and 500 in the second and third armadillo repeats. These variants were located in distinct areas from those associated with isolated FSGS5.
Hereditary Neuropathy_CMT - isolated v0.112 INF2 Zornitza Stark reviewed gene: INF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22187985, 30680856, 25943269; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.112 HSPB8 Zornitza Stark Marked gene: HSPB8 as ready
Hereditary Neuropathy_CMT - isolated v0.112 HSPB8 Zornitza Stark Gene: hspb8 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.112 HSPB8 Zornitza Stark Publications for gene: HSPB8 were set to
Hereditary Neuropathy_CMT - isolated v0.111 HSPB8 Zornitza Stark Mode of inheritance for gene: HSPB8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.110 HSPB8 Zornitza Stark reviewed gene: HSPB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 15122253, 15565283, 29029362, 28780615, 28144995, 26718575; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673, Neuronopathy, distal hereditary motor, type IIA , MIM#158590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.110 MED25 Zornitza Stark Marked gene: MED25 as ready
Hereditary Neuropathy_CMT - isolated v0.110 MED25 Zornitza Stark Gene: med25 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v0.110 SH3BP4 Zornitza Stark Marked gene: SH3BP4 as ready
Hereditary Neuropathy_CMT - isolated v0.110 SH3BP4 Zornitza Stark Gene: sh3bp4 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v0.110 SH3BP4 Zornitza Stark Mode of inheritance for gene: SH3BP4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.109 HSPB1 Zornitza Stark Mode of inheritance for gene: HSPB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.108 HSPB1 Zornitza Stark Marked gene: HSPB1 as ready
Hereditary Neuropathy_CMT - isolated v0.108 HSPB1 Zornitza Stark Gene: hspb1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.108 HSPB1 Zornitza Stark Phenotypes for gene: HSPB1 were changed from Charcot Marie Tooth disease, axonal, type 2F, 606595; HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIB, 608634 to Charcot Marie Tooth disease, axonal, type 2F, 606595; MONDO:0011687; HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIB, 608634; MONDO:0012080
Hereditary Neuropathy_CMT - isolated v0.107 HSPB1 Zornitza Stark Publications for gene: HSPB1 were set to
Hereditary Neuropathy_CMT - isolated v0.106 HSPB1 Zornitza Stark reviewed gene: HSPB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21785432, 15122254, 18832141, 32639100, 32334137; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2F, MIM# 606595, Neuronopathy, distal hereditary motor, type IIB, MIM# 608634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.106 HK1 Zornitza Stark Publications for gene: HK1 were set to 19536174
Hereditary Neuropathy_CMT - isolated v0.105 HK1 Zornitza Stark Marked gene: HK1 as ready
Hereditary Neuropathy_CMT - isolated v0.105 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.105 HK1 Zornitza Stark Phenotypes for gene: HK1 were changed from HMSN; Hemolytic anemia due to hexokinase deficiency, 235700; Neuropathy, hereditary motor and sensory, Russe type, 605285 to HMSN; Neuropathy, hereditary motor and sensory, Russe type, 605285
Hereditary Neuropathy_CMT - isolated v0.104 HK1 Zornitza Stark Publications for gene: HK1 were set to
Hereditary Neuropathy_CMT - isolated v0.103 HK1 Zornitza Stark Tag 5'UTR tag was added to gene: HK1.
Tag founder tag was added to gene: HK1.
Hereditary Neuropathy_CMT - isolated v0.103 HK1 Zornitza Stark reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19536174; Phenotypes: Neuropathy, hereditary motor and sensory, Russe type , MIM#605285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.103 PMP2 Zornitza Stark Marked gene: PMP2 as ready
Hereditary Neuropathy_CMT - isolated v0.103 PMP2 Zornitza Stark Gene: pmp2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.103 PMP2 Zornitza Stark Publications for gene: PMP2 were set to
Hereditary Neuropathy_CMT - isolated v0.102 PMP2 Zornitza Stark Mode of inheritance for gene: PMP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.101 HINT1 Zornitza Stark Marked gene: HINT1 as ready
Hereditary Neuropathy_CMT - isolated v0.101 HINT1 Zornitza Stark Gene: hint1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.101 HINT1 Zornitza Stark Phenotypes for gene: HINT1 were changed from HMSN, dHMN/dSMA; Autosomal recessive axonal neuropathy with neuromyotonia to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646; HMSN, dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.100 HINT1 Zornitza Stark Publications for gene: HINT1 were set to
Hereditary Neuropathy_CMT - isolated v0.99 HINT1 Zornitza Stark edited their review of gene: HINT1: Changed phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200, Gamstorp-Wohlfart syndrome, MONDO:0007646
Hereditary Neuropathy_CMT - isolated v0.99 HINT1 Zornitza Stark reviewed gene: HINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22961002, 33663550, 33404983, 31848916; Phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.99 ELP1 Zornitza Stark Marked gene: ELP1 as ready
Hereditary Neuropathy_CMT - isolated v0.99 ELP1 Zornitza Stark Gene: elp1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.99 HARS Zornitza Stark changed review comment from: Four unrelated families reported.; to: Four unrelated families reported.

New HGNC approved name is HARS1.
Hereditary Neuropathy_CMT - isolated v0.99 HARS Zornitza Stark Tag new gene name tag was added to gene: HARS.
Hereditary Neuropathy_CMT - isolated v0.99 HARS Zornitza Stark Marked gene: HARS as ready
Hereditary Neuropathy_CMT - isolated v0.99 HARS Zornitza Stark Gene: hars has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.99 HARS Zornitza Stark Phenotypes for gene: HARS were changed from Charcot-Marie-Tooth disease, axonal, type 2w; HMSN to Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625; MONDO:0014711; HMSN
Hereditary Neuropathy_CMT - isolated v0.98 HARS Zornitza Stark Publications for gene: HARS were set to
Hereditary Neuropathy_CMT - isolated v0.97 GNB4 Zornitza Stark Marked gene: GNB4 as ready
Hereditary Neuropathy_CMT - isolated v0.97 GNB4 Zornitza Stark Gene: gnb4 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.97 GNB4 Zornitza Stark Phenotypes for gene: GNB4 were changed from Charcot Marie Tooth disease, dominant intermediate F, 615185; HMSN to Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185; MONDO:0014074; HMSN
Hereditary Neuropathy_CMT - isolated v0.96 GNB4 Zornitza Stark Publications for gene: GNB4 were set to
Hereditary Neuropathy_CMT - isolated v0.95 GNB4 Zornitza Stark reviewed gene: GNB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23434117, 28642160, 27908631; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185, MONDO:0014074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.95 GJB1 Zornitza Stark Marked gene: GJB1 as ready
Hereditary Neuropathy_CMT - isolated v0.95 GJB1 Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.95 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800; HMSN to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; MONDO:0010549; HMSN
Hereditary Neuropathy_CMT - isolated v0.94 GJB1 Zornitza Stark Publications for gene: GJB1 were set to
Hereditary Neuropathy_CMT - isolated v0.93 GJB1 Zornitza Stark reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8266101, 17100997, 17353473; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800, MONDO:0010549; 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_CMT - isolated v0.93 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Hereditary Neuropathy_CMT - isolated v0.93 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.93 FIG4 Zornitza Stark Phenotypes for gene: FIG4 were changed from Yunis Varon syndrome, 216340; Amyotrophic lateral sclerosis 11, 612577; Charcot Marie Tooth disease, type 4J, 611228; HMSN to Charcot-Marie-Tooth disease, type 4J, MIM# 611228; MONDO:0012640; HMSN
Hereditary Neuropathy_CMT - isolated v0.92 FIG4 Zornitza Stark Publications for gene: FIG4 were set to
Hereditary Neuropathy_CMT - isolated v0.91 FIG4 Zornitza Stark edited their review of gene: FIG4: Changed phenotypes: Charcot-Marie-Tooth disease, type 4J, MIM# 611228, MONDO:0012640
Hereditary Neuropathy_CMT - isolated v0.91 FIG4 Zornitza Stark reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17572665, 21705420, 24878229; Phenotypes: Charcot-Marie-Tooth disease, type 4J, MIM# 611228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.91 FGD4 Zornitza Stark Marked gene: FGD4 as ready
Hereditary Neuropathy_CMT - isolated v0.91 FGD4 Zornitza Stark Gene: fgd4 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.91 FGD4 Zornitza Stark Phenotypes for gene: FGD4 were changed from Charcot Marie Tooth disease, type 4H, 609311; HMSN to Charcot Marie Tooth disease, type 4H, 609311; MONDO:0012250; HMSN
Hereditary Neuropathy_CMT - isolated v0.90 FGD4 Zornitza Stark Publications for gene: FGD4 were set to
Hereditary Neuropathy_CMT - isolated v0.89 FGD4 Zornitza Stark reviewed gene: FGD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564959, 31152969, 28847448, 28543957; Phenotypes: Charcot-Marie-Tooth disease, type 4H, MIM# 609311; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.89 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from Dysautonomia, familial, 223900; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN to Dysautonomia, familial, 223900; Riley-Day syndrome MONDO:0009131; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.88 ELP1 Zornitza Stark Publications for gene: ELP1 were set to
Hereditary Neuropathy_CMT - isolated v0.87 ELP1 Zornitza Stark reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11179008, 11179021, 17644305; Phenotypes: Dysautonomia, familial, MIM# 223900, Riley-Day syndrome MONDO:0009131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.87 DST Zornitza Stark Marked gene: DST as ready
Hereditary Neuropathy_CMT - isolated v0.87 DST Zornitza Stark Gene: dst has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.87 DST Zornitza Stark Phenotypes for gene: DST were changed from Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653; MONDO:0013839; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.86 DST Zornitza Stark Phenotypes for gene: DST were changed from Hereditary Sensory and Autonomic Neuropathy, Type VI; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.85 DST Zornitza Stark Publications for gene: DST were set to
Hereditary Neuropathy_CMT - isolated v0.84 COX6A1 Zornitza Stark Marked gene: COX6A1 as ready
Hereditary Neuropathy_CMT - isolated v0.84 COX6A1 Zornitza Stark Gene: cox6a1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.84 COX6A1 Zornitza Stark Phenotypes for gene: COX6A1 were changed from Charcot Marie Tooth disease, recessive intermediate D, 616039; HMSN to Charcot Marie Tooth disease, recessive intermediate D, 616039; MONDO:0014467; HMSN
Hereditary Neuropathy_CMT - isolated v0.83 COX6A1 Zornitza Stark Publications for gene: COX6A1 were set to
Hereditary Neuropathy_CMT - isolated v0.82 COX6A1 Zornitza Stark reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152455, 26302975, 25152455; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate D, MIM# 616039; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.82 DNMT1 Zornitza Stark Marked gene: DNMT1 as ready
Hereditary Neuropathy_CMT - isolated v0.82 DNMT1 Zornitza Stark Gene: dnmt1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.82 DNMT1 Zornitza Stark Publications for gene: DNMT1 were set to
Hereditary Neuropathy_CMT - isolated v0.81 CHCHD10 Zornitza Stark Marked gene: CHCHD10 as ready
Hereditary Neuropathy_CMT - isolated v0.81 CHCHD10 Zornitza Stark Gene: chchd10 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.81 CHCHD10 Zornitza Stark Phenotypes for gene: CHCHD10 were changed from Spinal muscular atrophy, Jokela type: 615048; dHMN/dSMA to Spinal muscular atrophy, Jokela type: 615048; CMT2; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.80 CHCHD10 Zornitza Stark Publications for gene: CHCHD10 were set to
Hereditary Neuropathy_CMT - isolated v0.79 CHCHD10 Zornitza Stark Tag founder tag was added to gene: CHCHD10.
Hereditary Neuropathy_CMT - isolated v0.79 CHCHD10 Zornitza Stark reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22535186, 27066538; Phenotypes: Spinal muscular atrophy, Jokela type, MIM# 615048, CMT2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.79 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Hereditary Neuropathy_CMT - isolated v0.79 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.79 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from Neuropathy, distal hereditary motor, type VA 600794; Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VC, MIM# 619112; HMSN, dHMN/dSMA; Silver spastic paraplegia syndrome 270685 to Neuropathy, distal hereditary motor, type VC, MIM# 619112
Hereditary Neuropathy_CMT - isolated v0.78 BSCL2 Zornitza Stark Publications for gene: BSCL2 were set to
Hereditary Neuropathy_CMT - isolated v0.77 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14981520, 15732094; Phenotypes: Neuropathy, distal hereditary motor, type VC, MIM# 619112; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.77 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Hereditary Neuropathy_CMT - isolated v0.77 BICD2 Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.77 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290; dHMN/dSMA 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_CMT - isolated v0.76 BICD2 Zornitza Stark Publications for gene: BICD2 were set to
Hereditary Neuropathy_CMT - isolated v0.75 BICD2 Zornitza Stark edited their review of gene: BICD2: Changed phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290, MONDO:0014121, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291
Hereditary Neuropathy_CMT - isolated v0.75 BICD2 Zornitza Stark reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23664116, 23664119, 23664120, 27751653, 28635954, 30054298, 29528393; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.75 ATL1 Zornitza Stark Marked gene: ATL1 as ready
Hereditary Neuropathy_CMT - isolated v0.75 ATL1 Zornitza Stark Gene: atl1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.75 ATL1 Zornitza Stark Phenotypes for gene: ATL1 were changed from HSAN/SFN; Neuropathy, hereditary sensory, type ID, 613708 to HSAN/SFN; Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381
Hereditary Neuropathy_CMT - isolated v0.74 ATL1 Zornitza Stark Publications for gene: ATL1 were set to
Hereditary Neuropathy_CMT - isolated v0.73 ATL1 Zornitza Stark Mode of inheritance for gene: ATL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.72 ATL1 Zornitza Stark reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194679, 24604904, 22340599; Phenotypes: Neuropathy, hereditary sensory, type ID , MIM#613708, MONDO:0013381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.72 VWA1 Alison Yeung Marked gene: VWA1 as ready
Hereditary Neuropathy_CMT - isolated v0.72 VWA1 Alison Yeung Gene: vwa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.72 VWA1 Alison Yeung Classified gene: VWA1 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v0.72 VWA1 Alison Yeung Gene: vwa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.71 VWA1 Melanie Marty gene: VWA1 was added
gene: VWA1 was added to Hereditary Neuropathy_CMT - isolated. Sources: 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
Added comment: Six different truncating variants identified in 15 affected individuals from six families (biallelic inheritance). Disease manifested in childhood or adulthood with proximal and distal muscle weakness predominantly of the lower limbs. Myopathological and neurophysiological findings were indicative of combined neurogenic and myopathic pathology. Early childhood foot deformity was frequent, but no sensory signs were observed.

An additional 17 individuals from 15 families with hereditary motor neuropathy were identified. A 10-bp repeat expansion at the end of exon 1 was observed in 14 families and was homozygous in 10 of them. This mutation, c.62_71dup [p.Gly25Argfs*74], leads to a frameshift that results in a reduction in VWA1 transcript levels via nonsense-mediated decay.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v0.71 TFG Zornitza Stark Marked gene: TFG as ready
Hereditary Neuropathy_CMT - isolated v0.71 TFG Zornitza Stark Gene: tfg has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.71 TFG Zornitza Stark Phenotypes for gene: TFG were changed from Hereditary motor and sensory neuropathy, Okinawa type; Chondrosarcoma, extraskeletal myxoid, 612237; HMSN; Hereditary motor and sensory neuropathy, proximal type, 604484 to Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484
Hereditary Neuropathy_CMT - isolated v0.70 TFG Zornitza Stark Publications for gene: TFG were set to
Hereditary Neuropathy_CMT - isolated v0.69 TFG Zornitza Stark reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 25098539, 23553329, 22883144, 31449671, 31111683; Phenotypes: Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.69 SPTAN1 Alison Yeung Classified gene: SPTAN1 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v0.69 SPTAN1 Alison Yeung Gene: sptan1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.68 SPTAN1 Melanie Marty gene: SPTAN1 was added
gene: SPTAN1 was added to Hereditary Neuropathy_CMT - isolated. Sources: 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 Distal hereditary motor neuropathy
Penetrance for gene: SPTAN1 were set to Incomplete
Review for gene: SPTAN1 was set to GREEN
Added comment: 13 affected individuals from 4 families reported (nonsense variants) with AD distal hereditary motor neuropathy. Variable penetrance was noted and phenotype severity differs greatly between patients. Functional studies show NMD and reduced protein levels in patient cells.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v0.68 REEP1 Zornitza Stark Marked gene: REEP1 as ready
Hereditary Neuropathy_CMT - isolated v0.68 REEP1 Zornitza Stark Gene: reep1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.68 REEP1 Zornitza Stark Phenotypes for gene: REEP1 were changed from Cardiomyopathy; ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant 610250; HMSN, dHMN/dSMA to Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250; Charcot-Marie-Tooth; severe congenital distal SMA with diaphragmatic paralysis; congenital axonal neuropathy and diaphragmatic palsy
Hereditary Neuropathy_CMT - isolated v0.67 REEP1 Zornitza Stark Publications for gene: REEP1 were set to
Hereditary Neuropathy_CMT - isolated v0.66 REEP1 Zornitza Stark Mode of pathogenicity for gene: REEP1 was changed from to Other
Hereditary Neuropathy_CMT - isolated v0.65 REEP1 Zornitza Stark Mode of inheritance for gene: REEP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.64 REEP1 Elena Savva reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27066569, 31872057, 22703882, 29124833; Phenotypes: ?Neuronopathy, distal hereditary motor, type VB MIM#614751, Spastic paraplegia 31, autosomal dominant MIM#610250, Charcot-Marie-Tooth, severe congenital distal SMA with diaphragmatic paralysis, congenital axonal neuropathy and diaphragmatic palsy; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.64 FBLN5 Zornitza Stark Marked gene: FBLN5 as ready
Hereditary Neuropathy_CMT - isolated v0.64 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.64 FBLN5 Zornitza Stark Publications for gene: FBLN5 were set to
Hereditary Neuropathy_CMT - isolated v0.63 FBLN5 Ain Roesley reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32757322, 31945625, 23328402, 28332470; Phenotypes: Charcot-Marie-Tooth 1, Neuropathy, hereditary, with or without age-related macular degeneration (MIM#608895); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy_CMT - isolated v0.63 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from Neuropathy, distal hereditary motor, type VA 600794; Lipodystrophy, congenital generalized, type 2 269700; Encephalopathy, progressive, with or without lipodystrophy, 615924; Neuropathy, distal hereditary motor, type VC, MIM# 619112; HMSN, dHMN/dSMA; Silver spastic paraplegia syndrome 270685 to Neuropathy, distal hereditary motor, type VA 600794; Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VC, MIM# 619112; HMSN, dHMN/dSMA; Silver spastic paraplegia syndrome 270685
Hereditary Neuropathy_CMT - isolated v0.62 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from Neuropathy, distal hereditary motor, type VA 600794; Lipodystrophy, congenital generalized, type 2 269700; Encephalopathy, progressive, with or without lipodystrophy, 615924; HMSN, dHMN/dSMA; Silver spastic paraplegia syndrome 270685 to Neuropathy, distal hereditary motor, type VA 600794; Lipodystrophy, congenital generalized, type 2 269700; Encephalopathy, progressive, with or without lipodystrophy, 615924; Neuropathy, distal hereditary motor, type VC, MIM# 619112; HMSN, dHMN/dSMA; Silver spastic paraplegia syndrome 270685
Hereditary Neuropathy_CMT - isolated v0.61 ITPR3 Zornitza Stark Marked gene: ITPR3 as ready
Hereditary Neuropathy_CMT - isolated v0.61 ITPR3 Zornitza Stark Gene: itpr3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.61 ITPR3 Zornitza Stark Classified gene: ITPR3 as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v0.61 ITPR3 Zornitza Stark Gene: itpr3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.60 ITPR3 Zornitza Stark gene: ITPR3 was added
gene: ITPR3 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature
Mode of inheritance for gene: ITPR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITPR3 were set to 32949214
Phenotypes for gene: ITPR3 were set to Charcot-Marie-Tooth disease
Mode of pathogenicity for gene: ITPR3 was set to Other
Review for gene: ITPR3 was set to AMBER
Added comment: Two unrelated families reported: variant segregated in four affected individuals in one family and was de novo in the second family where there was a single affected person. Some evidence for dominant-negative effect.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v0.59 SYT2 Zornitza Stark changed review comment from: Mono-allelic disease, PMID 25192047: dominant missense variants in SYT2 reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment in three families. These variants are thought to have a dominant-negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated. Supportive functional data from Drosophila.; to: Dominant missense variants in SYT2 reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment in three families. These variants are thought to have a dominant-negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated. Supportive functional data from Drosophila.
Hereditary Neuropathy_CMT - isolated v0.59 SYT2 Zornitza Stark Marked gene: SYT2 as ready
Hereditary Neuropathy_CMT - isolated v0.59 SYT2 Zornitza Stark Gene: syt2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.59 SYT2 Zornitza Stark changed review comment from: Mono-allelic disease, PMID 25192047: dominant missense variants in SYT2 reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment in two families. These variants are thought to have a dominant-negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated. Supportive functional data from Drosophila.; to: Mono-allelic disease, PMID 25192047: dominant missense variants in SYT2 reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment in three families. These variants are thought to have a dominant-negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated. Supportive functional data from Drosophila.
Hereditary Neuropathy_CMT - isolated v0.59 SYT2 Zornitza Stark edited their review of gene: SYT2: Changed publications: 25192047, 30533528
Hereditary Neuropathy_CMT - isolated v0.59 SYT2 Zornitza Stark reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192047; Phenotypes: Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040, neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.59 GARS Zornitza Stark Marked gene: GARS as ready
Hereditary Neuropathy_CMT - isolated v0.59 GARS Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is GARS1.
Hereditary Neuropathy_CMT - isolated v0.59 GARS Zornitza Stark Gene: gars has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.59 GARS Zornitza Stark Phenotypes for gene: GARS were changed from HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472 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_CMT - isolated v0.58 GARS Zornitza Stark Publications for gene: GARS were set to
Hereditary Neuropathy_CMT - isolated v0.57 GARS Zornitza Stark Tag new gene name tag was added to gene: GARS.
Hereditary Neuropathy_CMT - isolated v0.57 GARS Zornitza Stark reviewed gene: GARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 17101916, 22462675, 31985473, 32181591, 12690580, 25168514, 26503042, 29648643, 16982418; Phenotypes: Spinal muscular atrophy, infantile, James type, MIM# 619042, Charcot-Marie-Tooth disease, type 2D, MIM# 601472, Neuronopathy, distal hereditary motor, type VA, MIM# 600794; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.57 SH3TC2 Zornitza Stark Marked gene: SH3TC2 as ready
Hereditary Neuropathy_CMT - isolated v0.57 SH3TC2 Zornitza Stark Gene: sh3tc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.57 SH3TC2 Zornitza Stark Publications for gene: SH3TC2 were set to
Hereditary Neuropathy_CMT - isolated v0.56 SH3TC2 Zornitza Stark Mode of inheritance for gene: SH3TC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.55 SH3TC2 Zornitza Stark reviewed gene: SH3TC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19744956, 20220177, 19744956, 20028792; Phenotypes: Charcot-Marie-Tooth disease, type 4C MIM#601596, Mononeuropathy of the median nerve, mild MIM#613353; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.55 GBF1 Zornitza Stark Marked gene: GBF1 as ready
Hereditary Neuropathy_CMT - isolated v0.55 GBF1 Zornitza Stark Gene: gbf1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.55 GBF1 Zornitza Stark Classified gene: GBF1 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v0.55 GBF1 Zornitza Stark Gene: gbf1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.54 GBF1 Paul De Fazio gene: GBF1 was added
gene: GBF1 was added to Hereditary Neuropathy_CMT - isolated. Sources: 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 Axonal Neuropathy
Review for gene: GBF1 was set to GREEN
gene: GBF1 was marked as current diagnostic
Added comment: Four unrelated families with individuals affected by sporadic or dominant Distal hereditary motor neuropathies (HMNs) or axonal Charcot-Marie-Tooth neuropathy (CMT2). 3 missense variants (1 de novo) and 1 nonsense variant (de novo).

Age of onset varied from childhood (nonsense variant) to 50s. Authors observed marked increase in Golgi fragmentation in primary fibroblasts derived from all affected individuals.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v0.54 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Hereditary Neuropathy_CMT - isolated v0.54 VRK1 Zornitza Stark Gene: vrk1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.54 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Hereditary Neuropathy_CMT - isolated v0.53 VRK1 Zornitza Stark reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31560180, 32242460, 31178479, 31837156, 30847374; Phenotypes: Spinal muscular atrophy, HMSN; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.53 UBA1 Zornitza Stark Phenotypes for gene: UBA1 were changed from dHMN/dSMA; Spinal muscular atrophy, X-linked 2 to dHMN/dSMA; Spinal muscular atrophy, X-linked 2, MIM# 301830
Hereditary Neuropathy_CMT - isolated v0.52 UBA1 Zornitza Stark Publications for gene: UBA1 were set to
Hereditary Neuropathy_CMT - isolated v0.51 UBA1 Zornitza Stark reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy_CMT - isolated v0.51 LAS1L Zornitza Stark Marked gene: LAS1L as ready
Hereditary Neuropathy_CMT - isolated v0.51 LAS1L Zornitza Stark Gene: las1l has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v0.51 LAS1L Zornitza Stark gene: LAS1L was added
gene: LAS1L was added to Hereditary Neuropathy_CMT - isolated. Sources: 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
Review for gene: LAS1L was set to RED
Added comment: Variants in this gene are generally associated with XL intellectual disability (Wilson-Turner syndrome, MIM# 309585). Single case report of congenital lethal motor neuron disease (SMARD) identified with supportive zebrafish model. Unclear whether this is a distinct phenotype/mechanism at present, await further reports.
Sources: Expert Review
Hereditary Neuropathy_CMT - isolated v0.50 C1orf194 Zornitza Stark Publications for gene: C1orf194 were set to 31199454
Hereditary Neuropathy_CMT - isolated v0.49 C1orf194 Zornitza Stark edited their review of gene: C1orf194: Added comment: PMID: 32592472 (2020) - An additional knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy.; Changed publications: 31199454, 32592472
Hereditary Neuropathy_CMT - isolated v0.49 AARS Zornitza Stark Marked gene: AARS as ready
Hereditary Neuropathy_CMT - isolated v0.49 AARS Zornitza Stark Gene: aars has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.49 AARS Zornitza Stark Publications for gene: AARS were set to
Hereditary Neuropathy_CMT - isolated v0.48 AARS Zornitza Stark reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20045102, 22009580, 22206013, 30373780, 26032230; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.48 IGHMBP2 Zornitza Stark Marked gene: IGHMBP2 as ready
Hereditary Neuropathy_CMT - isolated v0.48 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.48 IGHMBP2 Zornitza Stark Publications for gene: IGHMBP2 were set to
Hereditary Neuropathy_CMT - isolated v0.47 IGHMBP2 Crystle Lee changed review comment from: >5 families reported with CMT2.; to: >5 families reported with CMT2. Complete loss of protein function appears to result in the move severe condition (spinal muscular atrophy with respiratory distress type 1 (SMARD1) [MIM#604320])
Hereditary Neuropathy_CMT - isolated v0.47 IGHMBP2 Crystle Lee reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439726; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2S (MIM#616155); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.47 SORD Zornitza Stark Phenotypes for gene: SORD were changed from isolated hereditary neuropathy to isolated hereditary neuropathy; Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912
Hereditary Neuropathy_CMT - isolated v0.46 SORD Zornitza Stark edited their review of gene: SORD: Changed rating: GREEN
Hereditary Neuropathy_CMT - isolated v0.46 SORD Zornitza Stark reviewed gene: SORD: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912; Mode of inheritance: None
Hereditary Neuropathy_CMT - isolated v0.46 PMP2 Bryony Thompson reviewed gene: PMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26257172, 26828946, 27009151; Phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1G MIM#618279; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.46 PMP22 Bryony Thompson Classified gene: PMP22 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v0.46 PMP22 Bryony Thompson Added comment: Comment on list classification: Both SNVs and CNVs cause disease
Hereditary Neuropathy_CMT - isolated v0.46 PMP22 Bryony Thompson Gene: pmp22 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.45 PMP22 Bryony Thompson Tag SV/CNV tag was added to gene: PMP22.
Hereditary Neuropathy_CMT - isolated v0.45 NEFH Zornitza Stark Marked gene: NEFH as ready
Hereditary Neuropathy_CMT - isolated v0.45 NEFH Zornitza Stark Gene: nefh has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.45 NEFH Zornitza Stark Publications for gene: NEFH were set to
Hereditary Neuropathy_CMT - isolated v0.44 NEFH Zornitza Stark reviewed gene: NEFH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30992180, 27040688, 28709447; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2CC, MIM#616924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.44 SORD Seb Lunke Marked gene: SORD as ready
Hereditary Neuropathy_CMT - isolated v0.44 SORD Seb Lunke Gene: sord has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.44 SORD Seb Lunke Classified gene: SORD as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v0.44 SORD Seb Lunke Gene: sord has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.43 SORD Seb Lunke edited their review of gene: SORD: Changed rating: GREEN
Hereditary Neuropathy_CMT - isolated v0.43 SORD Seb Lunke gene: SORD was added
gene: SORD was added to Hereditary Neuropathy_CMT - isolated. Sources: 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
gene: SORD was marked as current diagnostic
Added comment: 45 individuals from 38 families across multiple ancestries carrying the nonsense c.757delG
(p.Ala253GlnfsTer27) variant in SORD, in either a homozygous or compound heterozygous state
Sources: Literature
Hereditary Neuropathy_CMT - isolated v0.41 EGR2 Zornitza Stark Marked gene: EGR2 as ready
Hereditary Neuropathy_CMT - isolated v0.41 EGR2 Zornitza Stark Gene: egr2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.41 EGR2 Zornitza Stark Phenotypes for gene: EGR2 were changed from HMSN; Charcot Marie Tooth disease, type 1D, 607678 to Charcot-Marie-Tooth disease, type 1D 607678 AD; Dejerine-Sottas disease 145900 AD, AR; Hypomyelinating neuropathy, congenital, 1 605253 AD, AR
Hereditary Neuropathy_CMT - isolated v0.40 EGR2 Zornitza Stark Publications for gene: EGR2 were set to
Hereditary Neuropathy_CMT - isolated v0.39 EGR2 Zornitza Stark Mode of pathogenicity for gene: EGR2 was changed from to Other
Hereditary Neuropathy_CMT - isolated v0.38 EGR2 Zornitza Stark Mode of inheritance for gene: EGR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.37 EGR2 Michelle Torres reviewed gene: EGR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11523566, 31852952; Phenotypes: Charcot-Marie-Tooth disease, type 1D 607678 AD, Dejerine-Sottas disease 145900 AD, AR, Hypomyelinating neuropathy, congenital, 1 605253 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary Neuropathy_CMT - isolated v0.37 GDAP1 Zornitza Stark Marked gene: GDAP1 as ready
Hereditary Neuropathy_CMT - isolated v0.37 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.37 GDAP1 Zornitza Stark Phenotypes for gene: GDAP1 were changed from Charcot Marie Tooth disease, axonal, type 2K, 607831; HMSN; Charcot Marie Tooth disease, type 4A, 214400; Charcot Marie Tooth disease, recessive intermediate, A, 608340 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_CMT - isolated v0.36 GDAP1 Zornitza Stark Publications for gene: GDAP1 were set to
Hereditary Neuropathy_CMT - isolated v0.35 GDAP1 Zornitza Stark reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16172208, 21753178, 21365284, 20232219, 11743580; Phenotypes: 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; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.35 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Hereditary Neuropathy_CMT - isolated v0.35 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.35 JAG1 Zornitza Stark Classified gene: JAG1 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v0.35 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.34 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to Hereditary Neuropathy_CMT - isolated. Sources: 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
Review for gene: JAG1 was set to GREEN
Added comment: Two unrelated families reported with CMT type 2. Affected individuals in both families exhibited severe vocal fold paresis, a rare feature of peripheral nerve disease that can be life-threatening. Studies of mutant protein posttranslational modification and localization indicated that the mutations (p.Ser577Arg, p.Ser650Pro) impair protein glycosylation and reduce JAG1 cell surface expression. Mice harboring heterozygous CMT2-associated mutations exhibited mild peripheral neuropathy, and homozygous expression resulted in embryonic lethality by midgestation. Pre-existing rat model.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v0.33 C1orf194 Zornitza Stark Marked gene: C1orf194 as ready
Hereditary Neuropathy_CMT - isolated v0.33 C1orf194 Zornitza Stark Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.33 C1orf194 Zornitza Stark Classified gene: C1orf194 as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v0.33 C1orf194 Zornitza Stark Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.32 C1orf194 Zornitza Stark gene: C1orf194 was added
gene: C1orf194 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature
Mode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C1orf194 were set to 31199454
Phenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth disease, intermediate or demyelinating
Review for gene: C1orf194 was set to AMBER
Added comment: Two unrelated families with missense variants, one with intermediate CMT, the other with demyelinating CMT. Different phenotypic manifestations may relate to different mechanism, but this remains to be fully elucidated. Supportive mouse model.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v0.31 SIGMAR1 Zornitza Stark Marked gene: SIGMAR1 as ready
Hereditary Neuropathy_CMT - isolated v0.31 SIGMAR1 Zornitza Stark Gene: sigmar1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.31 SIGMAR1 Zornitza Stark Phenotypes for gene: SIGMAR1 were changed from ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA to ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA; Distal hereditary motor neuropathy of Jerash type (HMNJ)
Hereditary Neuropathy_CMT - isolated v0.30 SIGMAR1 Zornitza Stark Publications for gene: SIGMAR1 were set to
Hereditary Neuropathy_CMT - isolated v0.29 SIGMAR1 Zornitza Stark reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31511340; Phenotypes: Distal hereditary motor neuropathy of Jerash type (HMNJ); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.29 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Hereditary Neuropathy_CMT - isolated v0.29 UBA5 Zornitza Stark Gene: uba5 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.29 UBA5 Zornitza Stark Classified gene: UBA5 as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v0.29 UBA5 Zornitza Stark Gene: uba5 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.28 UBA5 Zornitza Stark gene: UBA5 was added
gene: UBA5 was added to Hereditary Neuropathy_CMT - isolated. Sources: 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
Review for gene: UBA5 was set to AMBER
Added comment: UBA5 variants have been associated with a range of neurological phenotypes, primarily epilepsy, ID and ataxia. Note these two reports of demyelinating peripheral neuropathy: 26872069 pair of sibs with mild ataxia, one with neuropathy; 32179706 five individuals from a consanguineous family presenting in infancy with severe fatal neuropathy. Some functional data. Due to early mortality, uncertain at present whether additional features would have developed.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v0.27 Zornitza Stark Panel name changed from Hereditary Neuropathy - isolated to Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy_CMT - isolated v0.26 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Hereditary Neuropathy_CMT - isolated v0.24 Zornitza Stark removed gene:FLVCR1 from the panel
Hereditary Neuropathy_CMT - isolated v0.23 VCP Zornitza Stark Marked gene: VCP as ready
Hereditary Neuropathy_CMT - isolated v0.23 VCP Zornitza Stark Gene: vcp has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.23 VCP Zornitza Stark Classified gene: VCP as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v0.23 VCP Zornitza Stark Gene: vcp has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.22 VCP Zornitza Stark reviewed gene: VCP: Rating: AMBER; Mode of pathogenicity: None; Publications: 25125609, 25878907; Phenotypes: Charcot-Marie-Tooth disease, type 2Y, MIM# 616687; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.22 VAPB Zornitza Stark Phenotypes for gene: VAPB were changed from Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA to Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA; Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980
Hereditary Neuropathy_CMT - isolated v0.21 VAPB Zornitza Stark Marked gene: VAPB as ready
Hereditary Neuropathy_CMT - isolated v0.21 VAPB Zornitza Stark Gene: vapb has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.21 VAPB Zornitza Stark Publications for gene: VAPB were set to
Hereditary Neuropathy_CMT - isolated v0.20 VAPB Zornitza Stark reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372378, 32162544, 28993872, 28173107, 26566915; Phenotypes: Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.20 TRPA1 Zornitza Stark Marked gene: TRPA1 as ready
Hereditary Neuropathy_CMT - isolated v0.20 TRPA1 Zornitza Stark Gene: trpa1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v0.20 TRPA1 Zornitza Stark Publications for gene: TRPA1 were set to
Hereditary Neuropathy_CMT - isolated v0.19 TRPA1 Zornitza Stark Classified gene: TRPA1 as Red List (low evidence)
Hereditary Neuropathy_CMT - isolated v0.19 TRPA1 Zornitza Stark Gene: trpa1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v0.18 TRPA1 Zornitza Stark reviewed gene: TRPA1: Rating: RED; Mode of pathogenicity: None; Publications: 20547126; Phenotypes: Episodic pain syndrome, familial, 1, MIM# 615040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.18 Zornitza Stark removed gene:SLC25A46 from the panel
Hereditary Neuropathy_CMT - isolated v0.17 MARS Zornitza Stark Marked gene: MARS as ready
Hereditary Neuropathy_CMT - isolated v0.17 MARS Zornitza Stark Gene: mars has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.17 MARS Zornitza Stark Publications for gene: MARS were set to
Hereditary Neuropathy_CMT - isolated v0.16 MARS Zornitza Stark Classified gene: MARS as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v0.16 MARS Zornitza Stark Gene: mars has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.15 MARS Zornitza Stark reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 23729695, 24354524, 29655802; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.15 HSPB3 Zornitza Stark Marked gene: HSPB3 as ready
Hereditary Neuropathy_CMT - isolated v0.15 HSPB3 Zornitza Stark Gene: hspb3 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v0.15 HSPB3 Zornitza Stark Publications for gene: HSPB3 were set to
Hereditary Neuropathy_CMT - isolated v0.14 HSPB3 Zornitza Stark Classified gene: HSPB3 as Red List (low evidence)
Hereditary Neuropathy_CMT - isolated v0.14 HSPB3 Zornitza Stark Gene: hspb3 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v0.13 HSPB3 Zornitza Stark reviewed gene: HSPB3: Rating: RED; Mode of pathogenicity: None; Publications: 20142617, 27549087; Phenotypes: Neuronopathy, distal hereditary motor, type IIC, MIM# 613376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.13 FBXO38 Zornitza Stark Marked gene: FBXO38 as ready
Hereditary Neuropathy_CMT - isolated v0.13 FBXO38 Zornitza Stark Gene: fbxo38 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.13 FBXO38 Zornitza Stark Classified gene: FBXO38 as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v0.13 FBXO38 Zornitza Stark Gene: fbxo38 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.12 FBXO38 Zornitza Stark reviewed gene: FBXO38: Rating: AMBER; Mode of pathogenicity: None; Publications: 24207122, 31420593; Phenotypes: Neuronopathy, distal hereditary motor, type IID, MIM# 615575; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.12 DRP2 Zornitza Stark Marked gene: DRP2 as ready
Hereditary Neuropathy_CMT - isolated v0.12 DRP2 Zornitza Stark Gene: drp2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.12 DRP2 Zornitza Stark reviewed gene: DRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26227883, 11430802, 31217940, 22764250, 29473052; Phenotypes: X-linked Charcot-Marie-Tooth; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy_CMT - isolated v0.12 ATL3 Zornitza Stark Marked gene: ATL3 as ready
Hereditary Neuropathy_CMT - isolated v0.12 ATL3 Zornitza Stark Gene: atl3 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.12 ATL3 Zornitza Stark Publications for gene: ATL3 were set to 24459106; 30666337; 30339187; 24736309
Hereditary Neuropathy_CMT - isolated v0.11 ATL3 Zornitza Stark Publications for gene: ATL3 were set to
Hereditary Neuropathy_CMT - isolated v0.10 ATL3 Zornitza Stark reviewed gene: ATL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24459106, 30666337, 30339187, 24736309; Phenotypes: Neuropathy, hereditary sensory, type IF, MIM# 615632; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.10 ARHGEF10 Zornitza Stark Classified gene: ARHGEF10 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v0.10 ARHGEF10 Zornitza Stark Gene: arhgef10 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.9 ARHGEF10 Zornitza Stark changed review comment from: Single family reported in 2003 with slowed nerve conduction velocities but no other clinical findings. Another individual reported in a large cohort.; to: Single family reported in 2003 with slowed nerve conduction velocities but no other clinical findings. Two others in CMT cohorts, plus functional data.
Hereditary Neuropathy_CMT - isolated v0.9 ARHGEF10 Zornitza Stark edited their review of gene: ARHGEF10: Changed rating: GREEN
Hereditary Neuropathy_CMT - isolated v0.9 ARHGEF10 Zornitza Stark Marked gene: ARHGEF10 as ready
Hereditary Neuropathy_CMT - isolated v0.9 ARHGEF10 Zornitza Stark Gene: arhgef10 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.9 ARHGEF10 Zornitza Stark Classified gene: ARHGEF10 as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v0.9 ARHGEF10 Zornitza Stark Gene: arhgef10 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.8 ARHGEF10 Zornitza Stark reviewed gene: ARHGEF10: Rating: AMBER; Mode of pathogenicity: None; Publications: 14508709, 25025039; Phenotypes: Slowed nerve conduction velocity, MIM# 608236; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.8 Bryony Thompson Panel name changed from Hereditary Neuropathy - isolated_RMH to Hereditary Neuropathy - isolated
Panel types changed to Royal Melbourne Hospital; Rare Disease
Hereditary Neuropathy_CMT - isolated v0.7 SCO2 Bryony Thompson reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29351582; Phenotypes: axonal Charcot-Marie-Tooth disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.7 NAGLU Bryony Thompson Marked gene: NAGLU as ready
Hereditary Neuropathy_CMT - isolated v0.7 NAGLU Bryony Thompson Gene: naglu has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.7 NAGLU Bryony Thompson reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: None; Publications: 25818867; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.7 KIF1B Bryony Thompson Marked gene: KIF1B as ready
Hereditary Neuropathy_CMT - isolated v0.7 KIF1B Bryony Thompson Gene: kif1b has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.7 KIF1B Bryony Thompson reviewed gene: KIF1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 11389829, 30126838, 25802885; Phenotypes: Charcot-Marie-Tooth disease, type 2A1 MIM#118210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.7 DGAT2 Bryony Thompson reviewed gene: DGAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26786738; Phenotypes: axonal Charcot-Marie-Tooth disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.7 SH3BP4 Bryony Thompson reviewed gene: SH3BP4: Rating: RED; Mode of pathogenicity: None; Publications: 24627108; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy_CMT - isolated v0.7 KLHL13 Bryony Thompson reviewed gene: KLHL13: Rating: RED; Mode of pathogenicity: None; Publications: 24627108; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy_CMT - isolated v0.7 UBA1 Bryony Thompson Classified gene: UBA1 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v0.7 UBA1 Bryony Thompson Gene: uba1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.6 UBA1 Bryony Thompson Deleted their comment
Hereditary Neuropathy_CMT - isolated v0.6 UBA1 Bryony Thompson edited their review of gene: UBA1: Added comment: Five families reported. Children with XL-SMA usually die from respiratory failure by age two years; however, the age at death ranges from the neonatal period to adolescence, the latter in those exceptional cases in which extensive respiratory and medical support are provided (genereviews).; Changed rating: GREEN; Changed publications: 18179898; Changed phenotypes: Spinal muscular atrophy, X-linked 2, infantile MIM#301830; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy_CMT - isolated v0.6 RBM7 Bryony Thompson Marked gene: RBM7 as ready
Hereditary Neuropathy_CMT - isolated v0.6 RBM7 Bryony Thompson Gene: rbm7 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.6 RBM7 Bryony Thompson Classified gene: RBM7 as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v0.6 RBM7 Bryony Thompson Gene: rbm7 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.5 RBM7 Bryony Thompson gene: RBM7 was added
gene: RBM7 was added to Hereditary Neuropathy - isolated_RMH. Sources: 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
Review for gene: RBM7 was set to AMBER
Added comment: Single case with a homozygote variant, with functional assays in patient fibroblasts. Also, supporting zebrafish model.
Sources: Expert list
Hereditary Neuropathy_CMT - isolated v0.4 PDK3 Bryony Thompson Marked gene: PDK3 as ready
Hereditary Neuropathy_CMT - isolated v0.4 PDK3 Bryony Thompson Gene: pdk3 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.4 PDK3 Bryony Thompson Classified gene: PDK3 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v0.4 PDK3 Bryony Thompson Gene: pdk3 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.3 PDK3 Bryony Thompson gene: PDK3 was added
gene: PDK3 was added to Hereditary Neuropathy - isolated_RMH. Sources: 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
Review for gene: PDK3 was set to GREEN
Added comment: Two unrelated families with the same variant and a single CMT case with another variant, and functional analyses conducted in patient fibroblasts and cell lines.
Sources: Expert list
Hereditary Neuropathy_CMT - isolated v0.1 MED25 Bryony Thompson gene: MED25 was added
gene: MED25 was added to Hereditary Neuropathy - isolated_RMH. Sources: Expert list
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
Review for gene: MED25 was set to RED
Added comment: Alternate cause for CMT2B2 identified in the original Costa Rican family (PMID: 19290556) in PNKP (PMID: 30039206).
Sources: Expert list
Hereditary Neuropathy_CMT - isolated v0.0 UBA1 Bryony Thompson Marked gene: UBA1 as ready
Hereditary Neuropathy_CMT - isolated v0.0 UBA1 Bryony Thompson Gene: uba1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v0.0 UBA1 Bryony Thompson commented on gene: UBA1
Hereditary Neuropathy_CMT - isolated v0.0 VAPB Bryony Thompson gene: VAPB was added
gene: VAPB was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VAPB were set to Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 UBA1 Bryony Thompson gene: UBA1 was added
gene: UBA1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to dHMN/dSMA; Spinal muscular atrophy, X-linked 2
Hereditary Neuropathy_CMT - isolated v0.0 TRPA1 Bryony Thompson gene: TRPA1 was added
gene: TRPA1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPA1 were set to Episodic pain syndrome, familial, 1; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 SYT2 Bryony Thompson gene: SYT2 was added
gene: SYT2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
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_CMT - isolated v0.0 SH3BP4 Bryony Thompson gene: SH3BP4 was added
gene: SH3BP4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: SH3BP4 was set to
Publications for gene: SH3BP4 were set to 24627108
Phenotypes for gene: SH3BP4 were set to HMSN
Hereditary Neuropathy_CMT - isolated v0.0 SCN10A Bryony Thompson gene: SCN10A was added
gene: SCN10A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCN10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN10A were set to HSAN/SFN; Episodic pain syndrome, familial, 2, 615551
Hereditary Neuropathy_CMT - isolated v0.0 KLHL13 Bryony Thompson gene: KLHL13 was added
gene: KLHL13 was added to Hereditary Neuropathy - isolated_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: KLHL13 was set to
Publications for gene: KLHL13 were set to 24627108
Phenotypes for gene: KLHL13 were set to HMSN
Hereditary Neuropathy_CMT - isolated v0.0 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 31408049; 28766925; 24628582
Phenotypes for gene: FLVCR1 were set to Posterior column ataxia with retinitis pigmentosa; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 DGAT2 Bryony Thompson gene: DGAT2 was added
gene: DGAT2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: DGAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DGAT2 were set to 26786738
Phenotypes for gene: DGAT2 were set to HMSN; Autosomal dominant Charcot-Marie-Tooth disease type 2
Hereditary Neuropathy_CMT - isolated v0.0 TRIM2 Bryony Thompson gene: TRIM2 was added
gene: TRIM2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRIM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM2 were set to Charcot-Marie-Tooth disease, type 2R, 615490; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 SMN1 Bryony Thompson gene: SMN1 was added
gene: SMN1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy
Hereditary Neuropathy_CMT - isolated v0.0 SCO2 Bryony Thompson gene: SCO2 was added
gene: SCO2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to ?Charcot-Marie-Tooth disease type 4; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 NAGLU Bryony Thompson gene: NAGLU was added
gene: NAGLU was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
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_CMT - isolated v0.0 MARS Bryony Thompson gene: MARS was added
gene: MARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MARS were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Hereditary Neuropathy_CMT - isolated v0.0 KIF1B Bryony Thompson gene: KIF1B was added
gene: KIF1B was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF1B were set to Charcot Marie Tooth disease, type 2A1, 118210; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 YARS Bryony Thompson gene: YARS was added
gene: YARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: YARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: YARS were set to Charcot Marie Tooth disease, dominant intermediate C, 608323; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 WNK1 Bryony Thompson gene: WNK1 was added
gene: WNK1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNK1 were set to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492
Hereditary Neuropathy_CMT - isolated v0.0 WARS Bryony Thompson gene: WARS was added
gene: WARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX, 617721
Hereditary Neuropathy_CMT - isolated v0.0 VRK1 Bryony Thompson gene: VRK1 was added
gene: VRK1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to Distal hereditary motor neuropathy; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 VCP Bryony Thompson gene: VCP was added
gene: VCP was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCP were set to Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; HMSN; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1; Charcot-Marie-Tooth disease, type 2Y
Hereditary Neuropathy_CMT - isolated v0.0 TRPV4 Bryony Thompson gene: TRPV4 was added
gene: TRPV4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPV4 were set to HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, 606071
Hereditary Neuropathy_CMT - isolated v0.0 TFG Bryony Thompson gene: TFG was added
gene: TFG was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TFG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy, Okinawa type; Chondrosarcoma, extraskeletal myxoid, 612237; HMSN; Hereditary motor and sensory neuropathy, proximal type, 604484
Hereditary Neuropathy_CMT - isolated v0.0 SPTLC2 Bryony Thompson gene: SPTLC2 was added
gene: SPTLC2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC, 613640; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 SPTLC1 Bryony Thompson gene: SPTLC1 was added
gene: SPTLC1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTLC1 were set to HSAN/SFN; Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IA, 162400
Hereditary Neuropathy_CMT - isolated v0.0 SPG11 Bryony Thompson gene: SPG11 was added
gene: SPG11 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG11 were set to HMSN; Hereditary Neuropathies; axonal Charcot-Marie-Tooth disease type 2X
Hereditary Neuropathy_CMT - isolated v0.0 SLC5A7 Bryony Thompson gene: SLC5A7 was added
gene: SLC5A7 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA
Hereditary Neuropathy_CMT - isolated v0.0 SLC25A46 Bryony Thompson gene: SLC25A46 was added
gene: SLC25A46 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 SIGMAR1 Bryony Thompson gene: SIGMAR1 was added
gene: SIGMAR1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIGMAR1 were set to ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 SH3TC2 Bryony Thompson gene: SH3TC2 was added
gene: SH3TC2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3TC2 were set to HMSN; Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353
Hereditary Neuropathy_CMT - isolated v0.0 SEPT9 Bryony Thompson gene: SEPT9 was added
gene: SEPT9 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 SCN9A Bryony Thompson gene: SCN9A was added
gene: SCN9A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
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; Hereditary sensory and autonomic neuropathy type IID; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 SCN11A Bryony Thompson gene: SCN11A was added
gene: SCN11A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN11A were set to Episodic pain syndrome, familial, 3, 615552; HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type VII, 615548
Hereditary Neuropathy_CMT - isolated v0.0 SBF2 Bryony Thompson gene: SBF2 was added
gene: SBF2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBF2 were set to HMSN; Charcot Marie Tooth disease, type 4B2, 604563
Hereditary Neuropathy_CMT - isolated v0.0 SBF1 Bryony Thompson gene: SBF1 was added
gene: SBF1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3, 615284; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 RETREG1 Bryony Thompson gene: RETREG1 was added
gene: RETREG1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 REEP1 Bryony Thompson gene: REEP1 was added
gene: REEP1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: REEP1 were set to Cardiomyopathy; ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant 610250; HMSN, dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 RAB7A Bryony Thompson gene: RAB7A was added
gene: RAB7A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAB7A were set to HMSN, HSAN/SFN; Charcot-Marie-Tooth disease, type 2B, 600882
Hereditary Neuropathy_CMT - isolated v0.0 PRX Bryony Thompson gene: PRX was added
gene: PRX was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRX were set to Dejerine Sottas disease, autosomal recessive, 145900; Charcot Marie Tooth disease, type 4F, 614895; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 PRPS1 Bryony Thompson gene: PRPS1 was added
gene: PRPS1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPS1 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: PRPS1 were set to Charcot Marie Tooth disease, X linked recessive, 5, 311070; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 PRDM12 Bryony Thompson gene: PRDM12 was added
gene: PRDM12 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM12 were set to hereditary sensory & autonomic neuropathy type VIII; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 PMP22 Bryony Thompson gene: PMP22 was added
gene: PMP22 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
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_CMT - isolated v0.0 PMP2 Bryony Thompson gene: PMP2 was added
gene: PMP2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PMP2 were set to HMSN; Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
Hereditary Neuropathy_CMT - isolated v0.0 PLEKHG5 Bryony Thompson gene: PLEKHG5 was added
gene: PLEKHG5 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEKHG5 were set to HMSN, dHMN/dSMA; Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
Hereditary Neuropathy_CMT - isolated v0.0 NGF Bryony Thompson gene: NGF was added
gene: NGF was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGF were set to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type V, 608654
Hereditary Neuropathy_CMT - isolated v0.0 NEFL Bryony Thompson gene: NEFL was added
gene: NEFL was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NEFL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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_CMT - isolated v0.0 NEFH Bryony Thompson gene: NEFH was added
gene: NEFH was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NEFH were set to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 NDRG1 Bryony Thompson gene: NDRG1 was added
gene: NDRG1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDRG1 were set to HMSN; Charcot Marie Tooth disease, type 4D, 601455
Hereditary Neuropathy_CMT - isolated v0.0 MTMR2 Bryony Thompson gene: MTMR2 was added
gene: MTMR2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 MPZ Bryony Thompson gene: MPZ was added
gene: MPZ was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MPZ were set to Charcot Marie Tooth disease, dominant intermediate D, 607791; Roussy Levy syndrome, 180800; 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_CMT - isolated v0.0 MPV17 Bryony Thompson gene: MPV17 was added
gene: MPV17 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2EE
Hereditary Neuropathy_CMT - isolated v0.0 MORC2 Bryony Thompson gene: MORC2 was added
gene: MORC2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MORC2 were set to Charcot-Marie-Tooth disease, axonal, type 2Z, 616688; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 MME Bryony Thompson gene: MME was added
gene: MME was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MME was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MME were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2T, 617017
Hereditary Neuropathy_CMT - isolated v0.0 MFN2 Bryony Thompson gene: MFN2 was added
gene: MFN2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were set to Hereditary motor and sensory neuropathy VI, 601152; Charcot Marie Tooth disease, type 2A2, 609260; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 LRSAM1 Bryony Thompson gene: LRSAM1 was added
gene: LRSAM1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LRSAM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LRSAM1 were set to Charcot Marie Toothe disease, axonal, type 2P, 614436; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 LMNA Bryony Thompson gene: LMNA was added
gene: LMNA was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to Malouf syndrome, 212112; Heart hand syndrome, Slovenian type, 610140; Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Hutchinson Gilford progeria, 176670; Charcot Marie Tooth disease, type 2B1, 605588; Lipodystrophy, familial partial, 2, 151660; Mandibuloacral dysplasia, 248370; Cardiomyopathy, dilated, 1A, 115200; Emery Dreifuss muscular dystrophy 3, AR, 181350; Restrictive dermopathy, lethal, 275210; Emery Dreifuss muscular dystrophy 2, AD, 181350; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 LITAF Bryony Thompson gene: LITAF was added
gene: LITAF was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LITAF were set to HMSN; Charcot Marie Tooth disease, type 1C, 601098
Hereditary Neuropathy_CMT - isolated v0.0 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant; Hereditary Neuropathies; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 KIF1A Bryony Thompson gene: KIF1A was added
gene: KIF1A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to HSAN/SFN; Neuropathy, hereditary sensory, type IIC, 614213
Hereditary Neuropathy_CMT - isolated v0.0 INF2 Bryony Thompson gene: INF2 was added
gene: INF2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: INF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: INF2 were set to Charcot Marie Tooth disease, dominant intermediate E, 614455; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 IGHMBP2 Bryony Thompson gene: IGHMBP2 was added
gene: IGHMBP2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
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_CMT - isolated v0.0 HSPB8 Bryony Thompson gene: HSPB8 was added
gene: HSPB8 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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_CMT - isolated v0.0 HSPB3 Bryony Thompson gene: HSPB3 was added
gene: HSPB3 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HSPB3 were set to HMSN, dHMN/dSMA; ?Neuronopathy, distal hereditary motor, type IIC, 613376
Hereditary Neuropathy_CMT - isolated v0.0 HSPB1 Bryony Thompson gene: HSPB1 was added
gene: HSPB1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HSPB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HSPB1 were set to Charcot Marie Tooth disease, axonal, type 2F, 606595; HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIB, 608634
Hereditary Neuropathy_CMT - isolated v0.0 HK1 Bryony Thompson gene: HK1 was added
gene: HK1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HK1 were set to HMSN; Hemolytic anemia due to hexokinase deficiency, 235700; Neuropathy, hereditary motor and sensory, Russe type, 605285
Hereditary Neuropathy_CMT - isolated v0.0 HINT1 Bryony Thompson gene: HINT1 was added
gene: HINT1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HINT1 were set to HMSN, dHMN/dSMA; Autosomal recessive axonal neuropathy with neuromyotonia
Hereditary Neuropathy_CMT - isolated v0.0 HARS Bryony Thompson gene: HARS was added
gene: HARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HARS were set to Charcot-Marie-Tooth disease, axonal, type 2w; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 GNB4 Bryony Thompson gene: GNB4 was added
gene: GNB4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNB4 were set to Charcot Marie Tooth disease, dominant intermediate F, 615185; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 GJB1 Bryony Thompson gene: GJB1 was added
gene: GJB1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
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)
Phenotypes for gene: GJB1 were set to Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 GDAP1 Bryony Thompson gene: GDAP1 was added
gene: GDAP1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GDAP1 were set to Charcot Marie Tooth disease, axonal, type 2K, 607831; HMSN; Charcot Marie Tooth disease, type 4A, 214400; Charcot Marie Tooth disease, recessive intermediate, A, 608340
Hereditary Neuropathy_CMT - isolated v0.0 GARS Bryony Thompson gene: GARS was added
gene: GARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GARS were set to HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472
Hereditary Neuropathy_CMT - isolated v0.0 FIG4 Bryony Thompson gene: FIG4 was added
gene: FIG4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FIG4 were set to Yunis Varon syndrome, 216340; Amyotrophic lateral sclerosis 11, 612577; Charcot Marie Tooth disease, type 4J, 611228; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 FGD4 Bryony Thompson gene: FGD4 was added
gene: FGD4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGD4 were set to Charcot Marie Tooth disease, type 4H, 609311; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 FBXO38 Bryony Thompson gene: FBXO38 was added
gene: FBXO38 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
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_CMT - isolated v0.0 FBLN5 Bryony Thompson gene: FBLN5 was added
gene: FBLN5 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBLN5 were set to HMSN; Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895
Hereditary Neuropathy_CMT - isolated v0.0 ELP1 Bryony Thompson gene: ELP1 was added
gene: ELP1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 EGR2 Bryony Thompson gene: EGR2 was added
gene: EGR2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EGR2 were set to HMSN; Charcot Marie Tooth disease, type 1D, 607678
Hereditary Neuropathy_CMT - isolated v0.0 DYNC1H1 Bryony Thompson gene: DYNC1H1 was added
gene: DYNC1H1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYNC1H1 were set to HMSN, dHMN/dSMA; Spinal muscular atrophy, lower extremity predominant, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot Marie Tooth disease, axonal, type 20, 614228
Hereditary Neuropathy_CMT - isolated v0.0 DST Bryony Thompson gene: DST was added
gene: DST was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DST were set to Hereditary Sensory and Autonomic Neuropathy, Type VI; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 DRP2 Bryony Thompson gene: DRP2 was added
gene: DRP2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
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_CMT - isolated v0.0 DNMT1 Bryony Thompson gene: DNMT1 was added
gene: DNMT1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNMT1 were set to Neuropathy, hereditary sensory, type IE, 614116; Dementia, Deafness, and Sensory Neuropathy; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 DNM2 Bryony Thompson gene: DNM2 was added
gene: DNM2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNM2 were set to HMSN; Myopathy, centronuclear, 160150; Lethal congenital contracture syndrome 5, 615368; Charcot Marie Tooth disease, axonal, type 2M, 606482
Hereditary Neuropathy_CMT - isolated v0.0 DNAJB2 Bryony Thompson gene: DNAJB2 was added
gene: DNAJB2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJB2 were set to HMSN, dHMN/dSMA; Spinal muscular atrophy, distal, autosomal recessive, 5, MIM#614881
Hereditary Neuropathy_CMT - isolated v0.0 DHTKD1 Bryony Thompson gene: DHTKD1 was added
gene: DHTKD1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: DHTKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DHTKD1 were set to HMSN; Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750
Hereditary Neuropathy_CMT - isolated v0.0 DCTN1 Bryony Thompson gene: DCTN1 was added
gene: DCTN1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DCTN1 were set to HMSN, dHMN/dSMA; Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641
Hereditary Neuropathy_CMT - isolated v0.0 COX6A1 Bryony Thompson gene: COX6A1 was added
gene: COX6A1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6A1 were set to Charcot Marie Tooth disease, recessive intermediate D, 616039; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 CHCHD10 Bryony Thompson gene: CHCHD10 was added
gene: CHCHD10 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type: 615048; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 BSCL2 Bryony Thompson gene: BSCL2 was added
gene: BSCL2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BSCL2 were set to Neuropathy, distal hereditary motor, type VA 600794; Lipodystrophy, congenital generalized, type 2 269700; Encephalopathy, progressive, with or without lipodystrophy, 615924; HMSN, dHMN/dSMA; Silver spastic paraplegia syndrome 270685
Hereditary Neuropathy_CMT - isolated v0.0 BICD2 Bryony Thompson gene: BICD2 was added
gene: BICD2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Spinal muscular atrophy, distal, X-linked 3; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 ATP1A1 Bryony Thompson gene: ATP1A1 was added
gene: ATP1A1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATP1A1 were set to Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Hereditary Neuropathy_CMT - isolated v0.0 ATL3 Bryony Thompson gene: ATL3 was added
gene: ATL3 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATL3 were set to Hereditary sensory neuropathy type IF; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 ATL1 Bryony Thompson gene: ATL1 was added
gene: ATL1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATL1 were set to HSAN/SFN; Neuropathy, hereditary sensory, type ID, 613708
Hereditary Neuropathy_CMT - isolated v0.0 ARHGEF10 Bryony Thompson gene: ARHGEF10 was added
gene: ARHGEF10 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
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_CMT - isolated v0.0 AARS Bryony Thompson gene: AARS was added
gene: AARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AARS were set to Charcot Marie Tooth disease, axonal, type 2N, 613287; HMSN, dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 Bryony Thompson Added panel Hereditary Neuropathy - isolated_RMH