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16 Feb 2026	Hereditary neuropathy or pain disorder v7.36	SPTAN1	Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotypes accessed on 16-02-2026
16 Feb 2026	Hereditary neuropathy or pain disorder v7.36	SPTAN1	Arina Puzriakova Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277 to Neuronopathy, distal hereditary motor, autosomal dominant 11, OMIM:620528; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
03 Feb 2026	Hereditary neuropathy or pain disorder v7.35	MORC2	Arina Puzriakova Publications for gene: MORC2 were set to
03 Feb 2026	Hereditary neuropathy or pain disorder v7.34	MORC2	Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype accessed on 03-02-2026
03 Feb 2026	Hereditary neuropathy or pain disorder v7.34	MORC2	Arina Puzriakova Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z to Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090
26 Jan 2026	Hereditary neuropathy or pain disorder v7.33		Arina Puzriakova Panel types changed to GMS Rare Disease Virtual; GMS signed-off
08 Jan 2026	Hereditary neuropathy or pain disorder v7.32	SPG7	Ida Ertmanska Tag digenic tag was added to gene: SPG7. Tag Q1_26_MOI tag was added to gene: SPG7. Tag Q1_26_NHS_review tag was added to gene: SPG7.
08 Jan 2026	Hereditary neuropathy or pain disorder v7.32	SPG7	Ida Ertmanska changed review comment from: Many homozygous and compound heterozygous cases reported in large spastic paraplegia cohorts, with variable symptom severity and age of onset (childhood to late adulthood). Recurrent SPG7 variants: SPG7: c.1529C>T, p.Ala510Val has MAF = 0.007265 in gnomAD v4.1.0 (European population), with 44 total homozygotes reported; SPG7: c.1454_1462del, p.Arg485_Glu487del - highest frequency in gnomAD v4.1.0 = 0.0006758 (Finnish population), no homozygotes; SPG7: c.233T>A, p.Leu78Ter - MAF = 0.002778 (South Asian population), 5 homozygotes reported. SPG7: c.1045G>A, p.Gly349Ser -MAF = 0.002041 (European), 3 homozygotes in gnomAD. PMID: 39978794 Jimoh et al., 2025 - Hungarian cohort - identified 25 biallelic and 33 monoallelic cases. The most common variant was p.Leu78Ter (N = 23), followed by p. Ala510Val (N = 21). PMID: 34405107 Campins-Romeu et al., 2021 - Caucasian man with multifocal dystonia with prominent bulbar and cervical involvement; SPG7 c.1529C > T(p.Ala510Val) and c.1715C > T(p.Ala572Val) - confirmed in trans PMID: 33598982 Estiar et al., 2021 - WES study of a Canadian cohort (585 HSP patients from 372 families and 1175 controls); p.(Ala510Val) was found in 3.7% of index patients vs 0.8% controls. Identified 4 heterozygous SPG7 variant carriers with an additional pathogenic variant in known spasticity genes (BSCL2, TBCE, SPAST), as well as four families with heterozygous variants in SPG7 and SPG7-interacting genes (CACNA1A, AFG3L2, and MORC2). FSP-04-053: Patient with spinocerebellar ataxia with AFG3L2: c.2114T>C, p.(Ile705Thr) and SPG7: c.376+1G>T. FSP-01-190: Patient with spinocerebellar ataxia with CACNA1A:c.4981C>T, p.Arg1661Cys and SPG7: p.Ala510Val. https://www.medrxiv.org/content/10.1101/2025.07.05.24312261v1 - 2025 preprint from the same group: Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders PMID: 31854126 Verdura et al., 2019 - 'A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases' Patient with Hereditary spastic paraplegia, harbouring variants in SPG7: (c.2195T> C; p.Leu732Pro) - found by WES, and a deep intronic variant (c.286 + 853A>G) - variant activates a cryptic splice site; found by WGS. Western blot showed decreased SPG7 levels in patient's fibroblasts. PMID: 31068484 Coarelli et al., 2019 241 spastic paraplegia cases with SPG7 variants. LoF variants correlate with spasticity-predominant phenotype. Patients with at least one p.Ala510Val variant showed a later onset and more frequent cerebellar ataxia. PMID: 26506339 Thal et al., 2015 - Caucasian man with HSP with homozygous p.Ala510Val, affected sister also homozygous, heterozygous children unaffected. Method: WGS PMID: 22964162 van Gassen et al., 2012 - Dutch cohort, 49 patients with homozygous or compound heterozygous SPG7 variants. MONOALLELIC CASES: PMID: 33774748 Bogdanova-Mihaylova et al., 2021 32 symptomatic individuals from 25 Irish families. 3 individuals reported to have heterozygous variants in SPG7; one of them subsequently found to have intronic repeat expansions in RFC1 (associated with Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome in OMIM). Heterozygous first-degree relatives of patients with recessive SPG7 variants were asymptomatic. PMID: 32548275 Charif et al., 2020 Identified 7 new heterozygous SPG7 variants in cases with isolated optic atrophy. All patients with SPG7 presented optic disk pallor and accordingly, reduced retinal nerve fiber layer (RNFL), though visual impairment was mild in all patients. Method: targeted sequencing panel of 22 genes. PMID: 24727571 Pfeffer et al., 2014: testing on 68 patients with Progressive external ophthalmoplegia (PEO), discovered 9 patients with compound heterozygous and 6 with heterozygous variants in SPG7. Of the 6 heterozygotes, 4/6 had PEO, 4/6 had ataxia and/or spasticity, 1/6 noted to have cerebellar atrophy. 3/6 patients were heterozygous for p.Ala510Val, with variable severity and age of onset (4-60 years old). Method: WES. PMID: 23065789 Klebe et al., 2012 Screened 135 unrelated index cases. Seq method: AFG3L2 and SPG7 sequencing only. p.Ala510Val was the most commonly detected SPG7 mutation (65%). Mostly biallelic HSP cases. 3 relatives of compound heterozygous patients, harbouring heterozygote SPG7 mutations, had mild, late-onset cerebellar signs and atrophy, or peripheral neuropathy, but no spasticity of the lower limbs. Patient 25 - isolated index HSP case - heterozygous for SPG7: c.1457G>A, p.Arg486Gln - MAF in gnomAD v4 = 0.01031 (European population), 73 total homozygotes reported. Novel missense SPG7 mutation at the heterozygous state (SPG7:c.1232A>C, p.Asp411Ala) was identified as the cause of isolated autosomal dominant optic neuropathy in a large family - variant not reported in gnomAD v4.1.0. SPG7 is associated with Spastic paraplegia 7, autosomal recessive MIM:607259 in OMIM (accessed 6th Jan 2026).; to: Many homozygous and compound heterozygous cases reported in large spastic paraplegia cohorts, with variable symptom severity and age of onset (childhood to late adulthood). Recurrent SPG7 variants: SPG7: c.1529C>T, p.Ala510Val has MAF = 0.007265 in gnomAD v4.1.0 (European population), with 44 total homozygotes reported; SPG7: c.1454_1462del, p.Arg485_Glu487del - highest frequency in gnomAD v4.1.0 = 0.0006758 (Finnish population), no homozygotes; SPG7: c.233T>A, p.Leu78Ter - MAF = 0.002778 (South Asian population), 5 homozygotes reported. SPG7: c.1045G>A, p.Gly349Ser -MAF = 0.002041 (European), 3 homozygotes in gnomAD. PMID: 39978794 Jimoh et al., 2025 - Hungarian cohort - identified 25 biallelic and 33 monoallelic cases. The most common variant was p.Leu78Ter (N = 23), followed by p. Ala510Val (N = 21). PMID: 34405107 Campins-Romeu et al., 2021 - Caucasian man with multifocal dystonia with prominent bulbar and cervical involvement; SPG7 c.1529C > T(p.Ala510Val) and c.1715C > T(p.Ala572Val) - confirmed in trans PMID: 33598982 Estiar et al., 2021 - WES study of a Canadian cohort (585 HSP patients from 372 families and 1175 controls); p.(Ala510Val) was found in 3.7% of index patients vs 0.8% controls. Identified 4 heterozygous SPG7 variant carriers with an additional pathogenic variant in known spasticity genes (BSCL2, TBCE, SPAST), as well as four families with heterozygous variants in SPG7 and SPG7-interacting genes (CACNA1A, AFG3L2, and MORC2). FSP-04-053: Patient with spinocerebellar ataxia with AFG3L2: c.2114T>C, p.(Ile705Thr) and SPG7: c.376+1G>T. FSP-01-190: Patient with spinocerebellar ataxia with CACNA1A:c.4981C>T, p.Arg1661Cys and SPG7: p.Ala510Val. https://www.medrxiv.org/content/10.1101/2025.07.05.24312261v1 - 2025 preprint from the same group: Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders PMID: 31854126 Verdura et al., 2019 - 'A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases' Patient with Hereditary spastic paraplegia, harbouring variants in SPG7: (c.2195T> C; p.Leu732Pro) - found by WES, and a deep intronic variant (c.286 + 853A>G) - variant activates a cryptic splice site; found by WGS. Western blot showed decreased SPG7 levels in patient's fibroblasts. PMID: 31068484 Coarelli et al., 2019 241 spastic paraplegia cases with SPG7 variants. LoF variants correlate with spasticity-predominant phenotype. Patients with at least one p.Ala510Val variant showed a later onset and more frequent cerebellar ataxia. PMID: 26506339 Thal et al., 2015 - Caucasian man with HSP with homozygous p.Ala510Val, affected sister also homozygous, heterozygous children unaffected. Method: WGS PMID: 22964162 van Gassen et al., 2012 - Dutch cohort, 49 patients with homozygous or compound heterozygous SPG7 variants. MONOALLELIC CASES: PMID: 33774748 Bogdanova-Mihaylova et al., 2021 32 symptomatic individuals from 25 Irish families. 3 individuals reported to have heterozygous variants in SPG7; one of them subsequently found to have intronic repeat expansions in RFC1 (associated with Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome in OMIM). Heterozygous first-degree relatives of patients with recessive SPG7 variants were asymptomatic. PMID: 32548275 Charif et al., 2020 Identified 7 new heterozygous SPG7 variants in cases with isolated optic atrophy. All patients with SPG7 presented optic disk pallor and accordingly, reduced retinal nerve fiber layer (RNFL), though visual impairment was mild in all patients. Method: targeted sequencing panel of 22 genes. PMID: 24727571 Pfeffer et al., 2014: testing on 68 patients with Progressive external ophthalmoplegia (PEO), discovered 9 patients with compound heterozygous and 6 with heterozygous variants in SPG7. Of the 6 heterozygotes, 4/6 had PEO, 4/6 had ataxia and/or spasticity, 1/6 noted to have cerebellar atrophy. 3/6 patients were heterozygous for p.Ala510Val, with variable severity and age of onset (4-60 years old). Method: WES. PMID: 23065789 Klebe et al., 2012 Screened 135 unrelated index cases. Seq method: AFG3L2 and SPG7 sequencing only. p.Ala510Val was the most commonly detected SPG7 mutation (65%). Mostly biallelic HSP cases. 3 relatives of compound heterozygous patients, harbouring heterozygote SPG7 mutations, had mild, late-onset cerebellar signs and atrophy, or peripheral neuropathy, but no spasticity of the lower limbs. Patient 25 - isolated index HSP case - heterozygous for SPG7: c.1457G>A, p.Arg486Gln - MAF in gnomAD v4 = 0.01031 (European population), 73 total homozygotes reported. Novel missense SPG7 mutation at the heterozygous state (SPG7:c.1232A>C, p.Asp411Ala) was identified as the cause of isolated autosomal dominant optic neuropathy in a large family - variant not reported in gnomAD v4.1.0. SPG7 is associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (accessed 8th Jan 2026). Entry for Spastic paraplegia 7 in GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1107/) mentions that the possibility of autosomal dominant inheritance remains controversial. SPG7 link to SPG7-related spastic paraplegia (biallelic_autosomal) is classified as definitive on the Gene2Phenotype Eye disorders panel.
08 Jan 2026	Hereditary neuropathy or pain disorder v7.32	SPG7	Ida Ertmanska edited their review of gene: SPG7: Changed publications to: 22964162, 23065789, 24727571, 26506339, 31068484, 31854126, 32548275, 33598982, 33774748, 34405107, 39978794; Changed phenotypes to: Spastic paraplegia 7, autosomal recessive, OMIM:607259, hereditary spastic paraplegia 7, MONDO:0011803
08 Jan 2026	Hereditary neuropathy or pain disorder v7.32	SPG7	Ida Ertmanska commented on gene: SPG7: Comment on list classification: As reviewed by Lauren Turton, an overwhelming majority of cases with SPG7-related spastic paraplegia / spinocerebellar ataxia have biallelic SPG7 variants. While several monoallelic cases have been described to date, the dominant inheritance was likely erroneously assigned due to technical study limitations (e.g., deep intronic SPG7 variant detectable only by WGS - PMID: 31854126), as well as possible digenic inheritance with variants in other spasticity-related genes / SPG7-interacting genes (emerging evidence for AFG3L2 in particular - PMID: 23065789, 33598982, 33774748). Heterozygous carriers of SPG7 variants in recessive pedigrees are usually unaffected. Based on available evidence, the mode of inheritance for SPG7 should be changed to BIALLELIC, autosomal or pseudoautosomal.
08 Jan 2026	Hereditary neuropathy or pain disorder v7.32	SPG7	Ida Ertmanska reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Dec 2025	Hereditary neuropathy or pain disorder v7.32	KIF21A	Eleanor Williams Phenotypes for gene: KIF21A were changed from CFEOM; agenesis of the corpus callosum; peripheral neuropathy to CFEOM; agenesis of the corpus callosum; peripheral neuropathy, MONDO:0005244
19 Dec 2025	Hereditary neuropathy or pain disorder v7.31	KIF21A	Ida Ertmanska Publications for gene: KIF21A were set to 39643435; 41282472
19 Dec 2025	Hereditary neuropathy or pain disorder v7.30	KIF21A	Ida Ertmanska Classified gene: KIF21A as Amber List (moderate evidence)
19 Dec 2025	Hereditary neuropathy or pain disorder v7.30	KIF21A	Ida Ertmanska Gene: kif21a has been classified as Amber List (Moderate Evidence).
19 Dec 2025	Hereditary neuropathy or pain disorder v7.29	KIF21A	Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: KIF21A. Tag Q4_25_NHS_review tag was added to gene: KIF21A.
19 Dec 2025	Hereditary neuropathy or pain disorder v7.29	KIF21A	Ida Ertmanska commented on gene: KIF21A: Comment on list classification: There are 3 unrelated individuals with progressive peripheral neuropathy reported with de novo heterozygous missense variants localised in the second coiled‑coil domain of KIF21A. Variants in other KIF21A domains are not known to cause neuropathy. Based on available evidence, KIF21A should be promoted to Green for Hereditary neuropathy or pain disorder.
19 Dec 2025	Hereditary neuropathy or pain disorder v7.29	KIF21A	Ida Ertmanska reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22699964, 32141982, 37921537, 39643435, 41282472; Phenotypes: CFEOM, agenesis of the corpus callosum, peripheral neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Dec 2025	Hereditary neuropathy or pain disorder v7.29	SPG7	Lauren Turton reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
07 Dec 2025	Hereditary neuropathy or pain disorder v7.29	KIF21A	Alexander Rossor gene: KIF21A was added gene: KIF21A was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF21A were set to 39643435; 41282472 Phenotypes for gene: KIF21A were set to CFEOM; agenesis of the corpus callosum; peripheral neuropathy Penetrance for gene: KIF21A were set to Complete Mode of pathogenicity for gene: KIF21A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KIF21A was set to AMBER Added comment: Currently only two unrelated individuals reported with peripheral neuropathy Sources: Expert list
04 Nov 2025	Hereditary neuropathy or pain disorder v7.29	CPOX	Ida Ertmanska Tag Q3_25_MOI tag was added to gene: CPOX. Tag Q3_25_expert_review tag was added to gene: CPOX.
04 Nov 2025	Hereditary neuropathy or pain disorder v7.29	CPOX	Ida Ertmanska edited their review of gene: CPOX: Added comment: Comment on mode of inheritance: As reviewed by Sharon Whatley, variants in CPOX may cause autosomal dominant or autosomal recessive porphyria. Monoallelic variants in CPOX have very low clinical penetrance (<1%) and may be challenging to report as diagnostic. Hence, BIALLELIC, autosomal or pseudoautosomal MOI would be more appropriate. This gene has been tagged for MOI Expert Review. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 20th Oct 2025).; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Oct 2025	Hereditary neuropathy or pain disorder v7.29	HMBS	Arina Puzriakova Tag Q2_25_expert_review was removed from gene: HMBS.
28 Oct 2025	Hereditary neuropathy or pain disorder v7.29	ARHGAP19	Achchuthan Shanmugasundram Tag Q3_25_NHS_review tag was added to gene: ARHGAP19.
28 Oct 2025	Hereditary neuropathy or pain disorder v7.29	ARHGAP19	Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: ARHGAP19.
28 Oct 2025	Hereditary neuropathy or pain disorder v7.29	ARHGAP19	Achchuthan Shanmugasundram Classified gene: ARHGAP19 as Amber List (moderate evidence)
28 Oct 2025	Hereditary neuropathy or pain disorder v7.29	ARHGAP19	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, there are multiple unrelated families reported with biallelic ARHGAP19 variants and with motor-predominant neuropathy. Hence, this gene should be promoted to green rating in the next GMS update.
28 Oct 2025	Hereditary neuropathy or pain disorder v7.29	ARHGAP19	Achchuthan Shanmugasundram Gene: arhgap19 has been classified as Amber List (Moderate Evidence).
28 Oct 2025	Hereditary neuropathy or pain disorder v7.28	ARHGAP19	Achchuthan Shanmugasundram Phenotypes for gene: ARHGAP19 were changed from motor axonal neuropathy to motor peripheral neuropathy, MONDO:0002316
28 Oct 2025	Hereditary neuropathy or pain disorder v7.27	ARHGAP19	Achchuthan Shanmugasundram reviewed gene: ARHGAP19: Rating: GREEN; Mode of pathogenicity: None; Publications: 41086021; Phenotypes: motor peripheral neuropathy, MONDO:0002316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Oct 2025	Hereditary neuropathy or pain disorder v7.27	PNPT1	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype last accessed on 27 October 2025.
27 Oct 2025	Hereditary neuropathy or pain disorder v7.27	PNPT1	Achchuthan Shanmugasundram Phenotypes for gene: PNPT1 were changed from Spinocerebellar ataxia 25, OMIM:608703 to Spinocerebellar ataxia 25, OMIM:608703; spinocerebellar ataxia type 25, MONDO:0012103
27 Oct 2025	Hereditary neuropathy or pain disorder v7.26	PNPT1	Achchuthan Shanmugasundram Publications for gene: PNPT1 were set to 14705117; 35411967
27 Oct 2025	Hereditary neuropathy or pain disorder v7.25	PNPT1	Achchuthan Shanmugasundram edited their review of gene: PNPT1: Changed phenotypes to: Spinocerebellar ataxia 25, OMIM:608703, spinocerebellar ataxia type 25, MONDO:0012103
27 Oct 2025	Hereditary neuropathy or pain disorder v7.25	ARHGAP19	Alexander Rossor gene: ARHGAP19 was added gene: ARHGAP19 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ARHGAP19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARHGAP19 were set to 41086021 Phenotypes for gene: ARHGAP19 were set to motor axonal neuropathy Penetrance for gene: ARHGAP19 were set to Complete Review for gene: ARHGAP19 was set to GREEN Added comment: multiple affected families Sources: Expert list
27 Oct 2025	Hereditary neuropathy or pain disorder v7.25	PNPT1	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three additional families reported with Spinocerebellar Ataxia 25 phenotype including polyneuropathy and are identified with monoallellic PNPT1 variants. Although there was incomplete penetrance observed in previously reported cases, the evidence from these recently reported families suggests that this gene can remain green on this panel.; to: Comment on list classification: There are three additional families reported with Spinocerebellar Ataxia 25 including polyneuropathy as part of the phenotype, and they are identified with monoallellic PNPT1 variants. Although there was incomplete penetrance observed in previously reported cases, the evidence from these recently reported families suggests that this gene can remain green on this panel.
27 Oct 2025	Hereditary neuropathy or pain disorder v7.25	PNPT1	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three additional families reported with Spinocerebellar Ataxia 25 phenotype including polyneuropathy and are identified with monoallellic PNPT1 variants. Although there was incomplete penetrance observed in previously reported cases, the evidence from these recently reported families suggests that this gene can remain green on this panel..; to: Comment on list classification: There are three additional families reported with Spinocerebellar Ataxia 25 phenotype including polyneuropathy and are identified with monoallellic PNPT1 variants. Although there was incomplete penetrance observed in previously reported cases, the evidence from these recently reported families suggests that this gene can remain green on this panel.
27 Oct 2025	Hereditary neuropathy or pain disorder v7.25	PNPT1	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three additional families reported with Spinocerebellar Ataxia 25 phenotype including polyneuropathy and are identified with monoallellic PNPT1 variants. Although there was incomplete penetrance observed in previously reported cases, all these recently families do not show any evidence of incompletely penetrance.; to: Comment on list classification: There are three additional families reported with Spinocerebellar Ataxia 25 phenotype including polyneuropathy and are identified with monoallellic PNPT1 variants. Although there was incomplete penetrance observed in previously reported cases, the evidence from these recently reported families suggests that this gene can remain green on this panel..
27 Oct 2025	Hereditary neuropathy or pain disorder v7.25	PNPT1	Achchuthan Shanmugasundram Classified gene: PNPT1 as Green List (high evidence)
27 Oct 2025	Hereditary neuropathy or pain disorder v7.25	PNPT1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three additional families reported with Spinocerebellar Ataxia 25 phenotype including polyneuropathy and are identified with monoallellic PNPT1 variants. Although there was incomplete penetrance observed in previously reported cases, all these recently families do not show any evidence of incompletely penetrance.
27 Oct 2025	Hereditary neuropathy or pain disorder v7.25	PNPT1	Achchuthan Shanmugasundram Gene: pnpt1 has been classified as Green List (High Evidence).
27 Oct 2025	Hereditary neuropathy or pain disorder v7.24	PNPT1	Achchuthan Shanmugasundram edited their review of gene: PNPT1: Added comment: There are additional cases reported recently: PMID:39899068 (2025) reported a 1-year-8-month-old female proband of Brazilian descent with Spinocerebellar Ataxia 25 that presented with progressive ataxia, cerebellar atrophy, and sensory neuropathy. She was identified with a novel heterozygous truncating variant in PNPT1 (c.2068del), which she inherited from her father. Although the father was previously reported as asymptomatic, he was affected with axonal and demyelinating polyneuropathy but not ataxia upon detailed examination. PMID:39924761 (2025) reported two unrelated families, where all individuals presented with sensory ataxic neuropathy (SAN), while some individuals developed cerebellar signs. Analysis of WGS variant data through the 100,000 Genomes Project identified two different heterozygous variants in these families. Family 1 underwent a 'quad' study and the previously reported c.2014‐3C>G variant segregated in all affected family members and was absent in all unaffected family members. Sanger sequencing confirmed segregation in two other individuals. c.2014‐3C>G is the same variant that was found in the 3-generation Australian family reported by PMID:35411967, where unaffected family members harboured the variant. A novel nonsense variant (c.2143C>T/ p.Arg715Ter) was found in both affected members of Family 2.; Changed publications to: 14705117, 35411967, 37935417, 39899068, 39924761
24 Oct 2025	Hereditary neuropathy or pain disorder v7.24	PTRH2	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 24 October 2025.
24 Oct 2025	Hereditary neuropathy or pain disorder v7.24	PTRH2	Achchuthan Shanmugasundram Phenotypes for gene: PTRH2 were changed from Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263 to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263; neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012
24 Oct 2025	Hereditary neuropathy or pain disorder v7.23	PTRH2	Achchuthan Shanmugasundram edited their review of gene: PTRH2: Changed phenotypes to: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263, neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012
24 Oct 2025	Hereditary neuropathy or pain disorder v7.23	TDP1	Achchuthan Shanmugasundram Classified gene: TDP1 as Amber List (moderate evidence)
24 Oct 2025	Hereditary neuropathy or pain disorder v7.23	TDP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least three different variants reported (two published variants including the founder-variant from the Middle East) in five unrelated families including the Sheffield case. There is also sufficient functional evidence available in support of the p.His493Arg founder variant. Hence, this gene can be promoted to green rating in the next GMS update.
24 Oct 2025	Hereditary neuropathy or pain disorder v7.23	TDP1	Achchuthan Shanmugasundram Gene: tdp1 has been classified as Amber List (Moderate Evidence).
24 Oct 2025	Hereditary neuropathy or pain disorder v7.22	TDP1	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM accessed 24 October 2025.
24 Oct 2025	Hereditary neuropathy or pain disorder v7.22	TDP1	Achchuthan Shanmugasundram Phenotypes for gene: TDP1 were changed from ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250 to ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, MONDO:0011801
24 Oct 2025	Hereditary neuropathy or pain disorder v7.21	TDP1	Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: TDP1.
24 Oct 2025	Hereditary neuropathy or pain disorder v7.21	TDP1	Achchuthan Shanmugasundram changed review comment from: As reviewed before, PMID:31182267 reported three unrelated probands (two Omani families and one Saudi Arabian family) with homozygous missense variant in TDP1 gene - p.His493Arg, which has been confirmed by haplotype analysis as a founder variant. However, the allele count for this variant in gnomAD v4.1.0 is 13 and it is not found in homozygous state in any of those individuals. In addition, there is also function evidence available that showed that cells expressing TDP1 gene with H493R variant promotes mitochondrial dysfunction and mitophagy. PMID:39576382 reported a female patient from a Pakistani family with autosomal recessive spinocerebellar ataxia with axonal neuropathy type 1, who presented with additional clinical features including congenital onset of disease, This patient was identified with novel missense variant in TDP1 - p.His478Tyr. via WES and autosomal recessive segregation was confirmed by Sanger sequencing. The allele count for this variant in gnomAD v4.1.0 is 10, of which eight were from South Asian ancestry - however, it is absent in homozygous state in the database. As reviewed by Ian Berry and Lauren Turton, there is an additional case reported in with p.His493Arg variant and a likely LoF splicing variant, who had early adulthood onset progressive ataxia and axonal neuropathy.; to: As reviewed before, PMID:31182267 reported three unrelated probands (two Omani families and one Saudi Arabian family) with homozygous missense variant in TDP1 gene - p.His493Arg, which has been confirmed by haplotype analysis as a founder variant. However, the allele count for this variant in gnomAD v4.1.0 is 13 and it is not found in homozygous state in any of those individuals. In addition, there is also functional evidence available that showed that cells expressing TDP1 gene with H493R variant promotes mitochondrial dysfunction and mitophagy. PMID:39576382 reported a female patient from a Pakistani family with autosomal recessive spinocerebellar ataxia with axonal neuropathy type 1, who presented with additional clinical features including congenital onset of disease. This patient was identified with a novel missense variant in TDP1 (p.His478Tyr) via WES, and autosomal recessive segregation was confirmed by Sanger sequencing. The allele count for this variant in gnomAD v4.1.0 is 10, of which eight were from South Asian ancestry - however, it is absent in homozygous state in the database. As reviewed by Ian Berry and Lauren Turton, there is an additional case reported in with p.His493Arg variant and a likely LoF splicing variant, who had early adulthood onset progressive ataxia and axonal neuropathy.
21 Oct 2025	Hereditary neuropathy or pain disorder v7.21	CPOX	Ida Ertmanska Phenotypes for gene: CPOX were changed from Coproporphyria, 121300; Harderoporphyria, 121300; Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP to Coproporphyria, OMIM:121300; Harderoporphyria, OMIM:618892 Publications for gene: CPOX were updated from to 8008008; 11074238; 11309681; 21103937; 24353603; 24156084; 35228944; 35584894; 38940544
21 Oct 2025	Hereditary neuropathy or pain disorder v7.20	CPOX	Ida Ertmanska edited their review of gene: CPOX: Changed publications to: 8008008, 11074238, 11309681, 21103937, 24353603, 24156084, 35228944, 35584894, 38940544
21 Oct 2025	Hereditary neuropathy or pain disorder v7.20	CPOX	Ida Ertmanska changed review comment from: Comment on list classification: Both mono- and bi- allelic variants in CPOX are known to cause hereditary coproporphyria (HCP), which may sometimes result in severe abdominal pain and progressive peripheral neuropathy. However, specific neuropathy cases are rarely reported with a genetic diagnosis - biochemical tests are a much more common diagnostic route. Since CPOX is the only gene known to cause Coproporphyria, this gene may remain Green for Hereditary neuropathy or pain disorder.; to: Comment on list classification: Both mono- and bi- allelic variants in CPOX are known to cause hereditary coproporphyria (HCP), which may result in severe abdominal pain and progressive peripheral neuropathy. However, specific neuropathy cases are rarely reported with a genetic diagnosis - only 1 individual with peripheral neuropathy and a heterozygous CPOX variant is included in this review (PMID: 35228944 Upchurch et al., 2025). Biochemical testing of faecal coproporphyrin is a much more common diagnostic route. Since CPOX is the only gene known to cause Coproporphyria, this gene may remain Green for Hereditary neuropathy or pain disorder.
21 Oct 2025	Hereditary neuropathy or pain disorder v7.20	CPOX	Ida Ertmanska changed review comment from: HCP patients may present with acute neurovisceral attacks, characterised by severe abdominal pain and neuropsychiatric symptoms - often provoked by drugs, alcohol, or endocrine factors. Diagnosis of HCP is established based on increased faecal coproporphyrin III:I ratio when VP has been excluded by the plasma fluorescence scan wavelength (PMID: 11309681 Lamoril et al., 2001; 38940544 Aarsand et al., 2022). Acute episodes can progress to include seizures, peripheral motor neuropathy and posterior reversible encephalopathy syndrome if left untreated (PMID: 35584894 Schulenburg-Brand et al., 2022) PMID: 11074238 Kuhnel et al., 2000 53 patients with HCP. Phenotype: abdominal pain (89% of the cohort), neurologic (33%), psychiatric (28%), cardiovascular (25%), and skin symptoms (14%). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 21st Oct 2025).; to: HCP patients may present with acute neurovisceral attacks, characterised by severe abdominal pain and neuropsychiatric symptoms - often provoked by drugs, alcohol, or endocrine factors. Diagnosis of HCP is established based on increased faecal coproporphyrin III:I ratio when VP has been excluded by the plasma fluorescence scan wavelength (PMID: 11309681 Lamoril et al., 2001; 38940544 Aarsand et al., 2022). Acute episodes can progress to include seizures, peripheral motor neuropathy and posterior reversible encephalopathy syndrome if left untreated (PMID: 35584894 Schulenburg-Brand et al., 2022) PMID: 8008008 Barohn et al. 1994 A 23-year-old man with no genetic diagnosis. Presented with epilepsy and a past history of abdominal pain. Electrophysiologic studies demonstrated a peripheral neuropathy with features of axonal degeneration and demyelination. PMID: 11074238 Kuhnel et al., 2000 53 patients with HCP. Phenotype: abdominal pain (89% of the cohort), neurologic (33%), psychiatric (28%), cardiovascular (25%), and skin symptoms (14%). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 24353603 Chen et al., 2013 46yo Chinese woman with a biochemical diagnosis of HCP. Phenotype: acute abdominal pain and progressive bilateral weakness and pain in the limbs. She also experienced significant muscle atrophy and decreased strength. Nerve conduction potential study revealed motor-sensory polyneuropathy. Successfully treated with hemin. PMID: 24156084 Jiménez-Jiménez et al., 2013 44-year-old patient presenting clinically with acute ataxia who was diagnosed with HCP. Heterozygous for p.Q306X. PMID: 35228944 Upchurch et al., 2025 26-year-old female with HCP who presented with acute ascending flaccid paralysis and respiratory failure after COVID-19 infection and was initially misdiagnosed and treated for Guillain-Barré syndrome. Patient developed progressively worsening abdominal pain; symmetric, distal-predominant, and ascending weakness developed four weeks later, associated with severe headaches and complex visual hallucinosis. Electrodiagnostic testing: profound axonal sensorimotor peripheral polyneuropathy affecting all extremities. No abnormalities on brain MRI. Successfully treated with hemin. Heterozygous for c.1070G>A (p.Cys357Tyr) - rare in gnomAD v4, Revel score = 0.9. Seq method: unknown. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 21st Oct 2025).
21 Oct 2025	Hereditary neuropathy or pain disorder v7.20	CPOX	Ida Ertmanska changed review comment from: Comment on list classification: Both mono- and bi- allelic variants in CPOX are known to cause hereditary coproporphyria, which may sometimes result in severe abdominal pain and progressive peripheral neuropathy. However, specific neuropathy cases are rarely reported with a genetic diagnosis - biochemical tests are a much more common diagnostic route. Since CPOX is the only gene known to cause Coproporphyria, this gene may remain Green for Hereditary neuropathy or pain disorder.; to: Comment on list classification: Both mono- and bi- allelic variants in CPOX are known to cause hereditary coproporphyria (HCP), which may sometimes result in severe abdominal pain and progressive peripheral neuropathy. However, specific neuropathy cases are rarely reported with a genetic diagnosis - biochemical tests are a much more common diagnostic route. Since CPOX is the only gene known to cause Coproporphyria, this gene may remain Green for Hereditary neuropathy or pain disorder.
21 Oct 2025	Hereditary neuropathy or pain disorder v7.20	CPOX	Ida Ertmanska edited their review of gene: CPOX: Changed publications to: 11074238, 11309681, 21103937, 35584894, 38940544
21 Oct 2025	Hereditary neuropathy or pain disorder v7.20	CPOX	Ida Ertmanska changed review comment from: Comment on list classification: Both mono- and bi- allelic variants in CPOX are known to cause hereditary coproporphyria, which may sometimes result in severe abdominal pain and progressive peripheral neuropathy. However, specific neuropathy cases are not reported with a genetic diagnosis - biochemical tests are a much more common diagnostic route. Since CPOX is the only gene known to cause Coproporphyria, this gene may remain Green for Hereditary neuropathy or pain disorder.; to: Comment on list classification: Both mono- and bi- allelic variants in CPOX are known to cause hereditary coproporphyria, which may sometimes result in severe abdominal pain and progressive peripheral neuropathy. However, specific neuropathy cases are rarely reported with a genetic diagnosis - biochemical tests are a much more common diagnostic route. Since CPOX is the only gene known to cause Coproporphyria, this gene may remain Green for Hereditary neuropathy or pain disorder.
21 Oct 2025	Hereditary neuropathy or pain disorder v7.20	CPOX	Ida Ertmanska changed review comment from: HCP patients may present with acute neurovisceral attacks, characterised by severe abdominal pain and neuropsychiatric symptoms - often provoked by drugs, alcohol, or endocrine factors. Diagnosis of HCP is established based on increased faecal coproporphyrin III:I ratio when VP has been excluded by the plasma fluorescence scan wavelength (PMID: 11309681 Lamoril et al., 2001; 38940544 Aarsand et al., 2022). Acute episodes can progress to include seizures, peripheral motor neuropathy and posterior reversible encephalopathy syndrome if left untreated (PMID: 35584894 Schulenburg-Brand et al., 2022) PMID: 11074238 Kuhnel et al., 2000 53 patients with HCP. Phenotype: abdominal pain (89% of the cohort), neurologic (33%), psychiatric (28%), cardiovascular (25%), and skin symptoms (14%). CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 21st Oct 2025).; to: HCP patients may present with acute neurovisceral attacks, characterised by severe abdominal pain and neuropsychiatric symptoms - often provoked by drugs, alcohol, or endocrine factors. Diagnosis of HCP is established based on increased faecal coproporphyrin III:I ratio when VP has been excluded by the plasma fluorescence scan wavelength (PMID: 11309681 Lamoril et al., 2001; 38940544 Aarsand et al., 2022). Acute episodes can progress to include seizures, peripheral motor neuropathy and posterior reversible encephalopathy syndrome if left untreated (PMID: 35584894 Schulenburg-Brand et al., 2022) PMID: 11074238 Kuhnel et al., 2000 53 patients with HCP. Phenotype: abdominal pain (89% of the cohort), neurologic (33%), psychiatric (28%), cardiovascular (25%), and skin symptoms (14%). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 21st Oct 2025).
21 Oct 2025	Hereditary neuropathy or pain disorder v7.20	CPOX	Ida Ertmanska edited their review of gene: CPOX: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Oct 2025	Hereditary neuropathy or pain disorder v7.20	CPOX	Ida Ertmanska edited their review of gene: CPOX: Changed publications to: 11074238, 11309681, 35584894, 38940544
21 Oct 2025	Hereditary neuropathy or pain disorder v7.20	CPOX	Ida Ertmanska commented on gene: CPOX: Comment on list classification: Both mono- and bi- allelic variants in CPOX are known to cause hereditary coproporphyria, which may sometimes result in severe abdominal pain and progressive peripheral neuropathy. However, specific neuropathy cases are not reported with a genetic diagnosis - biochemical tests are a much more common diagnostic route. Since CPOX is the only gene known to cause Coproporphyria, this gene may remain Green for Hereditary neuropathy or pain disorder.
21 Oct 2025	Hereditary neuropathy or pain disorder v7.20	CPOX	Ida Ertmanska reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coproporphyria, OMIM:121300, Harderoporphyria, OMIM:618892; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
14 Oct 2025	Hereditary neuropathy or pain disorder v7.20	XPNPEP3	Arina Puzriakova edited their review of gene: XPNPEP3: Changed rating: AMBER; Changed publications to: 38035175, 40953058; Changed phenotypes to: Nephronophthisis-like nephropathy 1, OMIM:613159, Peripheral neuropathy, MONDO:0005244, myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MONDO:0859322; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Oct 2025	Hereditary neuropathy or pain disorder v7.20	PPOX	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 13 October 2025.
13 Oct 2025	Hereditary neuropathy or pain disorder v7.20	PPOX	Achchuthan Shanmugasundram Phenotypes for gene: PPOX were changed from Variegate porphyria, childhood-onset, OMIM:620483; variegate porphyria, childhood-onset, MONDO:0957577 to Variegate porphyria, childhood-onset, OMIM:620483; variegate porphyria, childhood-onset, MONDO:0957577
13 Oct 2025	Hereditary neuropathy or pain disorder v7.19	PPOX	Achchuthan Shanmugasundram Phenotypes for gene: PPOX were changed from Porphyria variegata, OMIM:176200; Sensory neuropathy, HP:0000763 to Variegate porphyria, childhood-onset, OMIM:620483; variegate porphyria, childhood-onset, MONDO:0957577
13 Oct 2025	Hereditary neuropathy or pain disorder v7.18	PPOX	Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: PPOX.
13 Oct 2025	Hereditary neuropathy or pain disorder v7.18	PPOX	Ida Ertmanska changed review comment from: Comment on mode of inheritance: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with disease onset in adolescence or adulthood. Biallelic variants are known to cause Variegate Porphyria with a more severe, early-onset phenotype - skin lesions, along with neurologic and/ or neurodevelopmental symptoms - including neuropathy. As reported by previous reviewers, 3 individuals with biallelic variants in PPOX presented with sensory neuropathy (PMID: 11286631 Kauppinen, 10870850 Corrigall, 8290408 Hift). Hence, the mode of inheritance should be set to 'BIALLELIC, autosomal or pseudoautosomal' for Hereditary neuropathy or pain disorder.; to: Comment on mode of inheritance: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with disease onset in adolescence or adulthood. Biallelic variants are known to cause Variegate Porphyria with a more severe, early-onset phenotype - skin lesions, along with neurologic and/ or neurodevelopmental symptoms - including neuropathy. As reported by previous reviewers, 3 individuals with biallelic variants in PPOX presented with sensory neuropathy (PMID: 11286631 Kauppinen, 10870850 Corrigall, 8290408 Hift). Hence, the mode of inheritance should be set to 'BIALLELIC, autosomal or pseudoautosomal' for Hereditary neuropathy or pain disorder.
13 Oct 2025	Hereditary neuropathy or pain disorder v7.18	PPOX	Ida Ertmanska reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 8290408, 10870850, 11286631; Phenotypes: Variegate porphyria, childhood-onset, OMIM:620483, variegate porphyria, childhood-onset, MONDO:0957577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Oct 2025	Hereditary neuropathy or pain disorder v7.18	XPNPEP3	Arina Puzriakova Phenotypes for gene: XPNPEP3 were changed from Nephronophthisis-like nephropathy 1, OMIM:613159; Peripheral neuropathy, MONDO:0005244 to Nephronophthisis-like nephropathy 1, OMIM:613159; Peripheral neuropathy, MONDO:0005244; myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MONDO:0859322
13 Oct 2025	Hereditary neuropathy or pain disorder v7.17	XPNPEP3	Arina Puzriakova Phenotypes for gene: XPNPEP3 were changed from Nephronophthisis-like nephropathy 1, OMIM:613159; Peripheral neuropathy to Nephronophthisis-like nephropathy 1, OMIM:613159; Peripheral neuropathy, MONDO:0005244
13 Oct 2025	Hereditary neuropathy or pain disorder v7.16	XPNPEP3	Arina Puzriakova Phenotypes for gene: XPNPEP3 were changed from Nephronopthisis; brain white matter lesions; sensory axonal neuropathy; recurrent rhabdomyolysis; cardiomyopathy; ataxia; hearing loss to Nephronophthisis-like nephropathy 1, OMIM:613159; Peripheral neuropathy
13 Oct 2025	Hereditary neuropathy or pain disorder v7.15	XPNPEP3	Arina Puzriakova Publications for gene: XPNPEP3 were set to 40953058
13 Oct 2025	Hereditary neuropathy or pain disorder v7.14	XPNPEP3	Arina Puzriakova Classified gene: XPNPEP3 as Amber List (moderate evidence)
13 Oct 2025	Hereditary neuropathy or pain disorder v7.14	XPNPEP3	Arina Puzriakova Added comment: Comment on list classification: Biallelic variants in this gene are associated with nephronophthisis, a progressive cystic kidney disorder that leads to end-stage renal disease (OMIM:613159). Extra-renal manifestations have only been reported in a subset of cases - neurological features have been reported in at least 4 unrelated families including tremor, dystonia, rhabdomyolysis, peripheral neuropathy, sensorineural hearing loss, epilepsy and cardiomyopathy. Kidney disease was present in all (PMID: 20179356; 38035175), except one case (PMID: 40953058). In the literature, there are 2 cases with peripheral neuropathy and biallelic variants in this gene (PMID: 38035175; 40953058), however, this is not a common manifestation for this gene. One case did not have any typical renal features and therefore it's worth monitoring for similar reports. In the meantime rating as Amber awaiting further corroborating cases.
13 Oct 2025	Hereditary neuropathy or pain disorder v7.14	XPNPEP3	Arina Puzriakova Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
10 Oct 2025	Hereditary neuropathy or pain disorder v7.13	TDP1	Achchuthan Shanmugasundram edited their review of gene: TDP1: Added comment: As reviewed before, PMID:31182267 reported three unrelated probands (two Omani families and one Saudi Arabian family) with homozygous missense variant in TDP1 gene - p.His493Arg, which has been confirmed by haplotype analysis as a founder variant. However, the allele count for this variant in gnomAD v4.1.0 is 13 and it is not found in homozygous state in any of those individuals. In addition, there is also function evidence available that showed that cells expressing TDP1 gene with H493R variant promotes mitochondrial dysfunction and mitophagy. PMID:39576382 reported a female patient from a Pakistani family with autosomal recessive spinocerebellar ataxia with axonal neuropathy type 1, who presented with additional clinical features including congenital onset of disease, This patient was identified with novel missense variant in TDP1 - p.His478Tyr. via WES and autosomal recessive segregation was confirmed by Sanger sequencing. The allele count for this variant in gnomAD v4.1.0 is 10, of which eight were from South Asian ancestry - however, it is absent in homozygous state in the database. As reviewed by Ian Berry and Lauren Turton, there is an additional case reported in with p.His493Arg variant and a likely LoF splicing variant, who had early adulthood onset progressive ataxia and axonal neuropathy.; Changed rating: GREEN; Changed publications to: 12244316, 15920477, 17948061, 31182267, 31723605, 39576382; Changed phenotypes to: ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, MONDO:0011801
09 Oct 2025	Hereditary neuropathy or pain disorder v7.13	DLD	Arina Puzriakova Phenotypes for gene: DLD were changed from hepatic dysfunction; sensory axonal neuropathy to Dihydrolipoamide dehydrogenase deficiency, OMIM:246900; hepatic dysfunction; sensory axonal neuropathy
09 Oct 2025	Hereditary neuropathy or pain disorder v7.12	DLD	Arina Puzriakova Classified gene: DLD as Red List (low evidence)
09 Oct 2025	Hereditary neuropathy or pain disorder v7.12	DLD	Arina Puzriakova Added comment: Comment on list classification: Several cases reported with Dihydrolipoamide dehydrogenase deficiency (OMIM:246900) but only a single report linking this to a reversible sensory neuropathy (PMID:40888368). It is worth noting that neuropathy occurred without lactic acidosis or secondary vitamin deficiencies, coupled with lipid deposition in peripheral nerve biopsies. This requires validation through additional corroborative cases and therefore rating as Red until such cases emerge.
09 Oct 2025	Hereditary neuropathy or pain disorder v7.12	DLD	Arina Puzriakova Gene: dld has been classified as Red List (Low Evidence).
30 Sep 2025	Hereditary neuropathy or pain disorder v7.11	TTC19	Achchuthan Shanmugasundram Classified gene: TTC19 as Amber List (moderate evidence)
30 Sep 2025	Hereditary neuropathy or pain disorder v7.11	TTC19	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, there are three unrelated patents reported with biallelic TTC19 variants and motor neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.
30 Sep 2025	Hereditary neuropathy or pain disorder v7.11	TTC19	Achchuthan Shanmugasundram Gene: ttc19 has been classified as Amber List (Moderate Evidence).
30 Sep 2025	Hereditary neuropathy or pain disorder v7.10	TTC19	Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: TTC19. Tag Q3_25_NHS_review tag was added to gene: TTC19.
30 Sep 2025	Hereditary neuropathy or pain disorder v7.10	TTC19	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotype in both OMIM (MIM #615157, OMIM accessed on 30 September 2025) and Gene2Phenotype (with 'definitive' rating on the DD panel).
30 Sep 2025	Hereditary neuropathy or pain disorder v7.10	TTC19	Achchuthan Shanmugasundram Phenotypes for gene: TTC19 were changed from Ataxia; apraxia; dystonia; dysarthria; necrotic brain lesions; motor axonal neuropathy to Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157; mitochondrial complex III deficiency nuclear type 2, MONDO:0014063
30 Sep 2025	Hereditary neuropathy or pain disorder v7.9	TTC19	Achchuthan Shanmugasundram Publications for gene: TTC19 were set to 40946707; 37927170; 25652355
30 Sep 2025	Hereditary neuropathy or pain disorder v7.8	TTC19	Achchuthan Shanmugasundram reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 25652355, 37927170, 40946707; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157, mitochondrial complex III deficiency nuclear type 2, MONDO:0014063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Sep 2025	Hereditary neuropathy or pain disorder v7.8	TTC19	Alexander Rossor gene: TTC19 was added gene: TTC19 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC19 were set to 40946707; 37927170; 25652355 Phenotypes for gene: TTC19 were set to Ataxia; apraxia; dystonia; dysarthria; necrotic brain lesions; motor axonal neuropathy Penetrance for gene: TTC19 were set to Complete Review for gene: TTC19 was set to GREEN Added comment: Evidence of motor axonal neuropathy in 3 unrelated individuals. Sources: Expert list
21 Sep 2025	Hereditary neuropathy or pain disorder v7.8	XPNPEP3	Alexander Rossor gene: XPNPEP3 was added gene: XPNPEP3 was added to Hereditary neuropathy or pain disorder. Sources: Other Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to 40953058 Phenotypes for gene: XPNPEP3 were set to Nephronopthisis; brain white matter lesions; sensory axonal neuropathy; recurrent rhabdomyolysis; cardiomyopathy; ataxia; hearing loss Penetrance for gene: XPNPEP3 were set to Complete Review for gene: XPNPEP3 was set to AMBER Added comment: Currently sensory axonal neuropathy only reported in a single case. Sources: Other
19 Sep 2025	Hereditary neuropathy or pain disorder v7.8	TDP1	Lauren Turton reviewed gene: TDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia with axonal neuropathy (OMIM: 607250); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Sep 2025	Hereditary neuropathy or pain disorder v7.8	DLD	Alexander Rossor gene: DLD was added gene: DLD was added to Hereditary neuropathy or pain disorder. Sources: Other Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLD were set to 40888368 Phenotypes for gene: DLD were set to hepatic dysfunction; sensory axonal neuropathy Penetrance for gene: DLD were set to Complete Review for gene: DLD was set to AMBER Added comment: Single case reporting sensory axonal neuropathy therefore should be amber for now Sources: Other
11 Sep 2025	Hereditary neuropathy or pain disorder v7.8	CPOX	Sharon Whatley changed review comment from: Relevant metabolic investigation: Urine porphobilinogen PMID: 38940544 Aarsand reports that the acute porphyrias are a group of rare inborn errors of metabolism caused by abnormal functioning of haem biosynthesis enzymes and are associated with acute neurovisceral attacks characterized by severe abdominal pain and neuropsychiatric symptoms that may require highly specialized intensive care. The acute porphyrias, acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP), usually become symptomatic in early adulthood. PMID: 11309681 Lamoril reports that HCP is the least common of the autosomal dominant, acute hepatic porphyrias. It results from pathogenic variants in the CPOX gene that encodes the mitochondrial enzyme, coproporphyrinogen oxidase. PMID: 38940544 Aarsand and 23605133 Whatley report that HCP is an autosomal dominant disorder with an estimated prevalence of HCP in the UK as 1–2 in a million with a rough estimate of the clinical penetrance of 0.4%. Due to this low penetrance, genetic testing alone may be misleading and cause misdiagnosis. IPNET advises that biochemical testing is used to diagnose active HCP as the penetrance is so low. PMID: 35584894 Schulenburg-Brand reviews the neuropathy that may occur in the acute porphyrias. Weakness and altered sensation are typically mild in an acute attack and improve as the pain resolves. In a small number of cases, severe, progressive peripheral neuropathy develops. Neuropathy can worsen, even after the acute pain resolves, with a Guillain-Barré like picture. Proximal muscle weakness occurs in the upper limbs and can progress to involve the legs and cause respiratory failure. Cranial nerves can be involved, with the facial, vagus and hypoglossal nerves most often affected, causing swallowing difficulties. Sensory neuropathy is less common, but can cause numbness over the torso and thighs, sometimes with severe pain. Cases gradually resolve with respiratory support, and some patients may need prolonged mechanical ventilation. After recovery, some degree of peripheral neuropathy can persist, with foot drop and wrist drop being fairly typical. Careful consideration should be given to the reporting of a single pathogenic variant as an incidental finding in the CPOX gene, due to its low clinical penetrance (~0.4%).; to: Relevant metabolic investigation: Urine porphobilinogen PMID: 38940544 Aarsand reports that the acute porphyrias are a group of rare inborn errors of metabolism caused by abnormal functioning of haem biosynthesis enzymes and are associated with acute neurovisceral attacks characterized by severe abdominal pain and neuropsychiatric symptoms that may require highly specialized intensive care. The acute porphyrias, acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP), usually become symptomatic in early adulthood. PMID: 11309681 Lamoril reports that HCP is the least common of the autosomal dominant, acute hepatic porphyrias. It results from pathogenic variants in the CPOX gene that encodes the mitochondrial enzyme, coproporphyrinogen oxidase. PMID: 38940544 Aarsand and 23605133 Whatley report that HCP is an autosomal dominant disorder with an estimated prevalence of HCP in the UK as 1–2 in a million with a rough estimate of the clinical penetrance of 0.4%. Due to this low penetrance, genetic testing alone may be misleading and cause misdiagnosis. IPNET advises that biochemical testing is used to diagnose active HCP as the penetrance is so low. PMID: 35584894 Schulenburg-Brand reviews the neuropathy that may occur in the acute porphyrias. Weakness and altered sensation are typically mild in an acute attack and improve as the pain resolves. In a small number of cases, severe, progressive peripheral neuropathy develops. Neuropathy can worsen, even after the acute pain resolves, with a Guillain-Barré like picture. Proximal muscle weakness occurs in the upper limbs and can progress to involve the legs and cause respiratory failure. Cranial nerves can be involved, with the facial, vagus and hypoglossal nerves most often affected, causing swallowing difficulties. Sensory neuropathy is less common, but can cause numbness over the torso and thighs, sometimes with severe pain. Cases gradually resolve with respiratory support, and some patients may need prolonged mechanical ventilation. After recovery, some degree of peripheral neuropathy can persist, with foot drop and wrist drop being fairly typical. Careful consideration should be given to the reporting of a single pathogenic variant as an incidental finding in the CPOX gene, due to its low clinical penetrance (~0.4%).
11 Sep 2025	Hereditary neuropathy or pain disorder v7.8	CPOX	Sharon Whatley reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38940544, 11309681, 23605133, 35584894; Phenotypes: 121300, 618892; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
09 Sep 2025	Hereditary neuropathy or pain disorder v7.8	COX18	Achchuthan Shanmugasundram Classified gene: COX18 as Amber List (moderate evidence)
09 Sep 2025	Hereditary neuropathy or pain disorder v7.8	COX18	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated families and functional studies) for the association of biallelic COX18 variants with Charcot-Marie-Tooth disease. Hence, this gene can be promoted to green rating in the next GMS update.
09 Sep 2025	Hereditary neuropathy or pain disorder v7.8	COX18	Achchuthan Shanmugasundram Gene: cox18 has been classified as Amber List (Moderate Evidence).
09 Sep 2025	Hereditary neuropathy or pain disorder v7.7	COX18	Achchuthan Shanmugasundram Phenotypes for gene: COX18 were changed from peripheral neuropathy to mitochondrial disease, MONDO:0044970; Charcot-Marie-Tooth disease, MONDO:0015626
09 Sep 2025	Hereditary neuropathy or pain disorder v7.6	COX18	Achchuthan Shanmugasundram Publications for gene: COX18 were set to 40830826
09 Sep 2025	Hereditary neuropathy or pain disorder v7.5	COX18	Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: COX18. Tag Q3_25_NHS_review tag was added to gene: COX18.
09 Sep 2025	Hereditary neuropathy or pain disorder v7.5	COX18	Achchuthan Shanmugasundram reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 37468577, 40830826; Phenotypes: mitochondrial disease, MONDO:0044970, Charcot-Marie-Tooth disease, MONDO:0015626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
08 Sep 2025	Hereditary neuropathy or pain disorder v7.5	PPOX	Sharon Whatley reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38940544, 35584894, 37879139, 11286631, 10870850, 8290408; Phenotypes: 176200, 620483; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
25 Aug 2025	Hereditary neuropathy or pain disorder v7.5	COX18	Alexander Rossor gene: COX18 was added gene: COX18 was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX18 were set to 40830826 Phenotypes for gene: COX18 were set to peripheral neuropathy Penetrance for gene: COX18 were set to Complete Review for gene: COX18 was set to GREEN Added comment: 8 individuals from 3 families Sources: Literature
01 Aug 2025	Hereditary neuropathy or pain disorder v7.5	RCC1	Arina Puzriakova Phenotypes for gene: RCC1 were changed from to Severe, acute-onset axonal neuropathy following infection
01 Aug 2025	Hereditary neuropathy or pain disorder v7.4	RCC1	Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RCC1. Tag Q3_25_NHS_review tag was added to gene: RCC1.
01 Aug 2025	Hereditary neuropathy or pain disorder v7.4	RCC1	Arina Puzriakova Publications for gene: RCC1 were set to
01 Aug 2025	Hereditary neuropathy or pain disorder v7.3	RCC1	Arina Puzriakova Classified gene: RCC1 as Amber List (moderate evidence)
01 Aug 2025	Hereditary neuropathy or pain disorder v7.3	RCC1	Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - number of cases with the same phenotype and functional support. At least 12 unrelated families reported (PMID: 40683276) with biallelic variants in this gene associated with severe, acute-onset axonal neuropathy following infection. Eight different missense variants were identified. In vitro studies indicate that variants reduced the thermal stability of the RCC1 protein and some variants decreased GDP-to-GTP exchange activity. Patient fibroblasts under stress, revealed defects in Ran nuclear localisation and impaired nucleocytoplasmic transport. A Drosophila model demonstrated that altered Rcc1 function leads to fatal intolerance to oxidative stress.
01 Aug 2025	Hereditary neuropathy or pain disorder v7.3	RCC1	Arina Puzriakova Gene: rcc1 has been classified as Amber List (Moderate Evidence).
23 Jul 2025	Hereditary neuropathy or pain disorder v7.2	RCC1	Cassandra Smith reviewed gene: RCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40683276; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Jun 2025	Hereditary neuropathy or pain disorder v7.2	ABCD1	Arina Puzriakova Phenotypes for gene: ABCD1 were changed from Adrenoleukodystrophy, OMIM:300100; Adrenomyeloneuropathy, adult, OMIM:300100; adrenoleukodystrophy, MONDO:0018544 to Adrenoleukodystrophy, OMIM:300100; Adrenoleukodystrophy, adult, OMIM:300100
05 Jun 2025	Hereditary neuropathy or pain disorder v7.1	RFC1	Lauren Turton Deleted their review
05 Jun 2025	Hereditary neuropathy or pain disorder v7.1	RFC1	Lauren Turton reviewed gene: RFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36289003, 36478048, 35883251, 36250766, 36524104; Phenotypes: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (OMIM: 614575); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Apr 2025	Hereditary neuropathy or pain disorder v7.1		Sarah Leigh Panel version 7.0 has been signed off on 2025-04-30
30 Apr 2025	Hereditary neuropathy or pain disorder v7.0		Sarah Leigh promoted panel to version 7.0
24 Apr 2025	Hereditary neuropathy or pain disorder v6.168	HMBS	Sarah Leigh Tag Q2_25_expert_review tag was added to gene: HMBS.
24 Apr 2025	Hereditary neuropathy or pain disorder v6.168	HMBS	Sarah Leigh Tag Q2_25_ MOI tag was added to gene: HMBS.
24 Apr 2025	Hereditary neuropathy or pain disorder v6.168	HMBS	Sarah Leigh edited their review of gene: HMBS: Added comment: Based on review from Sharon Whatley (International Porphyria Network), the mode of inheritance of HMBS should be 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 on this panel - Hereditary neuropathy or pain disorder.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
24 Apr 2025	Hereditary neuropathy or pain disorder v6.168	HMBS	Sarah Leigh Added comment: Comment on publications: Publications suggested by Sharon Whatley (International Porphyria Network): 27539938; 38940544; 35584894; 14262853; 1577472; 15534187; 31153822; 14970743; 34089223; 27558376
24 Apr 2025	Hereditary neuropathy or pain disorder v6.168	HMBS	Sarah Leigh Publications for gene: HMBS were set to 27558376; 34089223
23 Apr 2025	Hereditary neuropathy or pain disorder v6.167	RCC1	Lauren Turton gene: RCC1 was added gene: RCC1 was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Mode of inheritance for gene: RCC1 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: RCC1 was set to AMBER Added comment: Present in medrxiv, https://www.medrxiv.org/content/10.1101/2024.10.04.24314535v1. As not formally published left as amber rating. 24 individuals from 12 families with acute onset axonal neuropathy. Very severe disease in acutely unwell children. Neurological presentation was secondary to infection. Sources: NHS GMS
15 Apr 2025	Hereditary neuropathy or pain disorder v6.167	RFC1_AAGGG	Sarah Leigh Publications for STR: RFC1_AAGGG were set to 30926972; 35883251; 36250766; 36289003; 36524104; 36478048
15 Apr 2025	Hereditary neuropathy or pain disorder v6.166	RFC1_AAGGG	Sarah Leigh edited their review of STR: RFC1_AAGGG: Added comment: Pathogenicity at the RFC1_AAGGG repeat locus can result from the biallelic replacement of the benign AAAAG repeat with a variable number of AAGGG repeats (PMID: 30926972; 32040566). Furthermore, biallelic expansions of (AAAAG)exp/(AAAGG)exp, (AAAAG)exp/(AAGGG)exp or (AAAGG)exp/(AAGGG)exp were not pathogenic, therefore, it is the biallelic expansions of AAGGG that is pathogenic (PMID: 30926972). An additional pathogenic biallelic expansion :RFC1_ACAGG, was seen in was seen in two Asia-Pacific CANVAS families and a Japanese case (PMID: 33103729, 35355059).; Changed publications to: 30926972, 35883251, 36250766, 36289003, 36524104, 36478048, 32040566, 33103729, 35355059
15 Apr 2025	Hereditary neuropathy or pain disorder v6.166	RFC1_AAGGG	Sarah Leigh STR: RFC1_AAGGG was added STR: RFC1_AAGGG was added to Hereditary neuropathy or pain disorder. Sources: Literature STR, NGS Not Validated tags were added to STR: RFC1_AAGGG. Mode of inheritance for STR: RFC1_AAGGG was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: RFC1_AAGGG were set to 30926972; 35883251; 36250766; 36289003; 36524104; 36478048 Phenotypes for STR: RFC1_AAGGG were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM: 614575 Review for STR: RFC1_AAGGG was set to GREEN Added comment: RFC1 transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence. RFC1_AAGGG is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 RFC1_AAGGG is on https://stripy.org/database RFC1_AARRG is on DRAGON 4.02. The coordinates of the sequence repeats shown above were obtained from DRAGON 4.02 and https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 The coordinates of the sequence repeats from https://stripy.org/database were 4:39348424-39348485 (hg38) The non-pathogenic and pathogenic ranges of the sequence repeats shown above were obtained from: https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 And https://stripy.org/database There is enough evidence for this STR to be green on this panel. This STR has not been approved by NHS STR working group and is not NGS Not Validated Sources: Literature
04 Apr 2025	Hereditary neuropathy or pain disorder v6.165	HMBS	Sharon Whatley reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 27539938, 38940544, 35584894, 14262853, 1577472, 15534187, 31153822, 14970743, 34089223, 27558376; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
02 Apr 2025	Hereditary neuropathy or pain disorder v6.165	VWA1_GGCGCGGAGC	Sarah Leigh Tag STR tag was added to STR: VWA1_GGCGCGGAGC.
02 Apr 2025	Hereditary neuropathy or pain disorder v6.165	VWA1_GGCGCGGAGC	Sarah Leigh STR: VWA1_GGCGCGGAGC was added STR: VWA1_GGCGCGGAGC was added to Hereditary neuropathy or pain disorder. Sources: Literature NGS Not Validated tags were added to STR: VWA1_GGCGCGGAGC. Mode of inheritance for STR: VWA1_GGCGCGGAGC was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: VWA1_GGCGCGGAGC were set to 33559681 Phenotypes for STR: VWA1_GGCGCGGAGC were set to Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216; neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 Review for STR: VWA1_GGCGCGGAGC was set to GREEN Added comment: VWA1 is transcribed from the forward strand. VWA1_GGCGCGGAGC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 VWA1_GGCGCGGAGC is on https://stripy.org/database VWA1_GGCGCGGAGC is on DRAGON 4.02. The coordinates of the sequence repeats shown above were the same on the above resources. The non-pathogenic and pathogenic ranges of the sequence repeats shown above were obtained from: https://stripy.org/database and https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 There is enough evidence for this STR to be green on this panel. This STR has not been approved by NHS STR working group and is not NGS Not Validated Sources: Literature
17 Mar 2025	Hereditary neuropathy or pain disorder v6.164	NOTCH2NL	Arina Puzriakova commented on gene: NOTCH2NL
17 Mar 2025	Hereditary neuropathy or pain disorder v6.164	NOTCH2NL	Arina Puzriakova Tag new-gene-name tag was added to gene: NOTCH2NL.
12 Mar 2025	Hereditary neuropathy or pain disorder v6.164	SPAST	Sarah Leigh Added comment: Comment on publications: PMID: 39731306 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
12 Mar 2025	Hereditary neuropathy or pain disorder v6.164	SPAST	Sarah Leigh Publications for gene: SPAST were set to 28572275
12 Mar 2025	Hereditary neuropathy or pain disorder v6.163	SPAST	Sarah Leigh Tag Q1_25_ MOI tag was added to gene: SPAST.
12 Mar 2025	Hereditary neuropathy or pain disorder v6.163	SPAST	Sarah Leigh edited their review of gene: SPAST: Added comment: Numerous heterozygous SPAST variants have been associated with Spastic paraplegia 4, autosomal dominant (OMIM:182601). PMID: 39731306 reports five homozygous SPAST variants in nine individuals from six families with spastic paraplegia and neurodegeneration. Amongst the homozygous children, all had lower limb spasticity, 5/6 had upper limb spasticity and 3/6 had severe intellectual disability. Evidence of consanguinity was evident in five of the families and the parents of the homozygous children were heterozygous for the SPAST variant found in the child, these carrier parents were asymptomatic in all but one the families studied.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
12 Mar 2025	Hereditary neuropathy or pain disorder v6.163	NDC1	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: NDC1.
12 Mar 2025	Hereditary neuropathy or pain disorder v6.163	ADPRHL2	Eleanor Williams commented on gene: ADPRHL2
12 Mar 2025	Hereditary neuropathy or pain disorder v6.163	ADPRHL2	Eleanor Williams Tag new-gene-name tag was added to gene: ADPRHL2.
12 Mar 2025	Hereditary neuropathy or pain disorder v6.163	FICD	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FICD.
12 Mar 2025	Hereditary neuropathy or pain disorder v6.163	DHX9	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #620988).
12 Mar 2025	Hereditary neuropathy or pain disorder v6.163	DHX9	Achchuthan Shanmugasundram Phenotypes for gene: DHX9 were changed from Adult-onset axonal neuropathy; Charcot-Marie-Tooth disease, MONDO:0015626 to Intellectual developmental disorder, autosomal dominant 75, OMIM:620988
12 Mar 2025	Hereditary neuropathy or pain disorder v6.162	DHX9	Achchuthan Shanmugasundram Tag gene-checked was removed from gene: DHX9.
11 Mar 2025	Hereditary neuropathy or pain disorder v6.162	FGF14_TTC	Sarah Leigh commented on STR: FGF14_TTC: The name of this STR has been changed from FGF14_GAA to FGF14_TTC as FGF14 is transcribed from the reverse strand of the sequence. The coordinates for the repeated sequence have been updated to those shown in https://stripy.org/database/FGF14. Previously, the coordinates were for the whole gene, rather than the repeated sequence.
11 Mar 2025	Hereditary neuropathy or pain disorder v6.162	FGF14_TTC	Sarah Leigh Tag NGS Not Validated tag was added to STR: FGF14_TTC.
11 Mar 2025	Hereditary neuropathy or pain disorder v6.162	FGF14_TTC	Sarah Leigh FGF14_GAA was changed to FGF14_TTC GRCh38 position for FGF14_TTC was changed from 101710804-102402443 to 102161576-102161726. Repeated Sequence for FGF14_TTC was changed from GAA to TTC. Source Literature was removed from STR: FGF14_TTC.
03 Mar 2025	Hereditary neuropathy or pain disorder v6.161	TDP1	Sarah Leigh Added comment: Comment on publications: PMID: 39576382 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
03 Mar 2025	Hereditary neuropathy or pain disorder v6.161	TDP1	Sarah Leigh Publications for gene: TDP1 were set to 12244316; 31182267; 39576382
03 Mar 2025	Hereditary neuropathy or pain disorder v6.160	TDP1	Sarah Leigh Classified gene: TDP1 as Amber List (moderate evidence)
03 Mar 2025	Hereditary neuropathy or pain disorder v6.160	TDP1	Sarah Leigh Added comment: Comment on list classification: This gene remains amber, as there are only two disease associated variants have been reported (PMID: 12244316;31182267;39576382)
03 Mar 2025	Hereditary neuropathy or pain disorder v6.160	TDP1	Sarah Leigh Gene: tdp1 has been classified as Amber List (Moderate Evidence).
03 Mar 2025	Hereditary neuropathy or pain disorder v6.159	TDP1	Sarah Leigh Publications for gene: TDP1 were set to 12244316; 31182267; 39576382
03 Mar 2025	Hereditary neuropathy or pain disorder v6.157	TDP1	Sarah Leigh reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39576382; Phenotypes: ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, MONDO:0011801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
03 Mar 2025	Hereditary neuropathy or pain disorder v6.157	TDP1	Sarah Leigh Publications for gene: TDP1 were set to 12244316; 31182267
25 Feb 2025	Hereditary neuropathy or pain disorder v6.156	FMR1_CGG	Sarah Leigh Tag Q3_24_promote_green was removed from STR: FMR1_CGG. Tag Q3_24_NHS_review was removed from STR: FMR1_CGG.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.156	FMR1_CGG	Sarah Leigh Classified STR: FMR1_CGG as Green List (high evidence)
25 Feb 2025	Hereditary neuropathy or pain disorder v6.156	FMR1_CGG	Sarah Leigh Str: fmr1_cgg has been classified as Green List (High Evidence).
25 Feb 2025	Hereditary neuropathy or pain disorder v6.155	FMR1_CGG	Sarah Leigh commented on STR: FMR1_CGG: The rating of this STR has been updated to green following NHS Genomic Medicine Service approval.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.155	ATXN7_CAG	Sarah Leigh Classified STR: ATXN7_CAG as Green List (high evidence)
25 Feb 2025	Hereditary neuropathy or pain disorder v6.155	ATXN7_CAG	Sarah Leigh Str: atxn7_cag has been classified as Green List (High Evidence).
25 Feb 2025	Hereditary neuropathy or pain disorder v6.154	ATXN7_CAG	Sarah Leigh Tag Q3_24_promote_green was removed from STR: ATXN7_CAG. Tag Q3_24_NHS_review was removed from STR: ATXN7_CAG.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.154	ATXN7_CAG	Sarah Leigh commented on STR: ATXN7_CAG: The rating of this STR has been updated to green following NHS Genomic Medicine Service approval.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.154	ATXN3_CAG	Sarah Leigh Classified STR: ATXN3_CAG as Green List (high evidence)
25 Feb 2025	Hereditary neuropathy or pain disorder v6.154	ATXN3_CAG	Sarah Leigh Str: atxn3_cag has been classified as Green List (High Evidence).
25 Feb 2025	Hereditary neuropathy or pain disorder v6.153	ATXN3_CAG	Sarah Leigh Tag Q3_24_promote_green was removed from STR: ATXN3_CAG. Tag Q3_24_NHS_review was removed from STR: ATXN3_CAG.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.153	ATXN3_CAG	Sarah Leigh commented on STR: ATXN3_CAG: The rating of this STR has been updated to green following NHS Genomic Medicine Service approval.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.153	ATXN2_CAG	Sarah Leigh Classified STR: ATXN2_CAG as Green List (high evidence)
25 Feb 2025	Hereditary neuropathy or pain disorder v6.153	ATXN2_CAG	Sarah Leigh Str: atxn2_cag has been classified as Green List (High Evidence).
25 Feb 2025	Hereditary neuropathy or pain disorder v6.152	ATXN2_CAG	Sarah Leigh Tag Q3_24_promote_green was removed from STR: ATXN2_CAG. Tag Q3_24_NHS_review was removed from STR: ATXN2_CAG.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.152	ATXN2_CAG	Sarah Leigh commented on STR: ATXN2_CAG: The rating of this STR has been updated to green following NHS Genomic Medicine Service approval.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.152	ATXN1_CAG	Sarah Leigh Classified STR: ATXN1_CAG as Green List (high evidence)
25 Feb 2025	Hereditary neuropathy or pain disorder v6.152	ATXN1_CAG	Sarah Leigh Str: atxn1_cag has been classified as Green List (High Evidence).
25 Feb 2025	Hereditary neuropathy or pain disorder v6.151	ATXN1_CAG	Sarah Leigh Tag Q3_24_promote_green was removed from STR: ATXN1_CAG. Tag Q3_24_NHS_review was removed from STR: ATXN1_CAG.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.151	ATXN1_CAG	Sarah Leigh commented on STR: ATXN1_CAG: The rating of this STR has been updated to green following NHS Genomic Medicine Service approval.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.151	ATXN10_ATTCT	Sarah Leigh changed review comment from: The rating of this STR has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; to: The rating of this STR has been updated to green following NHS Genomic Medicine Service approval.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.151	ATXN10_ATTCT	Sarah Leigh Classified STR: ATXN10_ATTCT as Green List (high evidence)
25 Feb 2025	Hereditary neuropathy or pain disorder v6.151	ATXN10_ATTCT	Sarah Leigh Str: atxn10_attct has been classified as Green List (High Evidence).
25 Feb 2025	Hereditary neuropathy or pain disorder v6.150	ATXN10_ATTCT	Sarah Leigh Tag Q3_24_promote_green was removed from STR: ATXN10_ATTCT. Tag Q3_24_NHS_review was removed from STR: ATXN10_ATTCT.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.150	ATXN10_ATTCT	Sarah Leigh commented on STR: ATXN10_ATTCT: The rating of this STR has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.150	FXN_GAA	Sarah Leigh Tag Q3_24_promote_green was removed from STR: FXN_GAA. Tag Q3_24_NHS_review was removed from STR: FXN_GAA.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.150	NOP56_GGCCTG	Sarah Leigh changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to following NHS Genomic Medicine Service approval. This change has been checked with NTGLH and Alex Rosser confirmed rationale for inclusion.; to: The rating of this STR has been updated to green and the mode of inheritance set to following NHS Genomic Medicine Service approval. This change has been checked with NTGLH and Alex Rosser confirmed rationale for inclusion.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.150	FXN_GAA	Sarah Leigh Classified STR: FXN_GAA as Green List (high evidence)
25 Feb 2025	Hereditary neuropathy or pain disorder v6.150	FXN_GAA	Sarah Leigh Str: fxn_gaa has been classified as Green List (High Evidence).
25 Feb 2025	Hereditary neuropathy or pain disorder v6.149	FXN_GAA	Sarah Leigh commented on STR: FXN_GAA: The rating of this STR has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval (added as per previous conversations with James Polke).
25 Feb 2025	Hereditary neuropathy or pain disorder v6.149	NOP56_GGCCTG	Sarah Leigh changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to following NHS Genomic Medicine Service approval. This change has been checked with NTGLH and Alex Rosser confirmed rationale for inclusion.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.149	NOP56_GGCCTG	Sarah Leigh Tag Q3_24_promote_green was removed from STR: NOP56_GGCCTG. Tag Q3_24_NHS_review was removed from STR: NOP56_GGCCTG. Tag Q3_24_expert_review was removed from STR: NOP56_GGCCTG.
25 Feb 2025	Hereditary neuropathy or pain disorder v6.149	NOP56_GGCCTG	Sarah Leigh Classified STR: NOP56_GGCCTG as Green List (high evidence)
25 Feb 2025	Hereditary neuropathy or pain disorder v6.149	NOP56_GGCCTG	Sarah Leigh Str: nop56_ggcctg has been classified as Green List (High Evidence).
25 Feb 2025	Hereditary neuropathy or pain disorder v6.148	NOP56_GGCCTG	Sarah Leigh reviewed STR: NOP56_GGCCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Feb 2025	Hereditary neuropathy or pain disorder v6.148	MAPK8IP3	Sarah Leigh changed review comment from: The request for MAPK8IP3 to be rated as green was refused by the NHS Genomic Medicine Service. This decision was made because the phenotype associated with MAPK8IP3 variants is broader than this panel (Hereditary neuropathy or pain disorder, R78) and is covered by the Paediatric disorders (R27) and Intellectual disability (R29) panels, where MAPK8IP3 already has a green rating.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. This decision was made because the phenotype associated with MAPK8IP3 variants is broader than this panel (Hereditary neuropathy or pain disorder, R78) and is covered by the Paediatric disorders (R27) and Intellectual disability (R29) panels, where MAPK8IP3 already has a green rating.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	UCHL1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: UCHL1. Tag Q3_24_NHS_review was removed from gene: UCHL1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	VPS13D	Sarah Leigh Tag Q3_24_promote_green was removed from gene: VPS13D. Tag Q3_24_NHS_review was removed from gene: VPS13D.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	XPA	Sarah Leigh Tag Q3_24_promote_green was removed from gene: XPA. Tag Q3_24_NHS_review was removed from gene: XPA.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ZFYVE26	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ZFYVE26. Tag Q3_24_NHS_review was removed from gene: ZFYVE26.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	SAMD9L	Sarah Leigh Tag Q3_24_promote_green was removed from gene: SAMD9L. Tag Q3_24_NHS_review was removed from gene: SAMD9L.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	SOX10	Sarah Leigh Tag Q3_24_promote_green was removed from gene: SOX10. Tag Q3_24_NHS_review was removed from gene: SOX10.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	SPAST	Sarah Leigh Tag Q3_24_promote_green was removed from gene: SPAST. Tag Q3_24_NHS_review was removed from gene: SPAST.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	TBCE	Sarah Leigh Tag Q3_24_promote_green was removed from gene: TBCE. Tag Q3_24_NHS_review was removed from gene: TBCE.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	TRMT5	Sarah Leigh Tag Q3_24_promote_green was removed from gene: TRMT5. Tag Q3_24_NHS_review was removed from gene: TRMT5.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	OPA3	Sarah Leigh Tag Q3_24_promote_green was removed from gene: OPA3. Tag Q3_24_NHS_review was removed from gene: OPA3.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PDHA1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: PDHA1. Tag Q3_24_NHS_review was removed from gene: PDHA1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PHYH	Sarah Leigh Tag Q3_24_promote_green was removed from gene: PHYH. Tag Q3_24_NHS_review was removed from gene: PHYH.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PIEZO2	Sarah Leigh Tag Q3_24_promote_green was removed from gene: PIEZO2. Tag Q3_24_NHS_review was removed from gene: PIEZO2.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PLA2G16	Sarah Leigh Tag Q3_24_promote_green was removed from gene: PLA2G16. Tag Q3_24_NHS_review was removed from gene: PLA2G16.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PLA2G6	Sarah Leigh Tag Q3_24_promote_green was removed from gene: PLA2G6. Tag Q3_24_NHS_review was removed from gene: PLA2G6.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PNPT1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: PNPT1. Tag Q3_24_NHS_review was removed from gene: PNPT1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	POLG	Sarah Leigh Tag Q3_24_promote_green was removed from gene: POLG. Tag Q3_24_NHS_review was removed from gene: POLG.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PRNP	Sarah Leigh Tag Q3_24_promote_green was removed from gene: PRNP. Tag Q3_24_NHS_review was removed from gene: PRNP.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PTRH2	Sarah Leigh Tag Q3_24_promote_green was removed from gene: PTRH2. Tag Q3_24_NHS_review was removed from gene: PTRH2.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	GLA	Sarah Leigh Tag Q3_24_promote_green was removed from gene: GLA. Tag Q3_24_NHS_review was removed from gene: GLA.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	HADHA	Sarah Leigh Tag Q3_24_promote_green was removed from gene: HADHA. Tag Q3_24_NHS_review was removed from gene: HADHA.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	HADHB	Sarah Leigh Tag Q3_24_promote_green was removed from gene: HADHB. Tag Q3_24_NHS_review was removed from gene: HADHB.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	HPDL	Sarah Leigh Tag Q3_24_promote_green was removed from gene: HPDL. Tag Q3_24_NHS_review was removed from gene: HPDL.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	NARS	Sarah Leigh Tag Q3_24_promote_green was removed from gene: NARS. Tag Q3_24_NHS_review was removed from gene: NARS.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	NDC1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: NDC1. Tag Q3_24_NHS_review was removed from gene: NDC1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	NDUFS6	Sarah Leigh Tag Q3_24_promote_green was removed from gene: NDUFS6. Tag Q3_24_NHS_review was removed from gene: NDUFS6.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	NFASC	Sarah Leigh Tag Q3_24_promote_green was removed from gene: NFASC. Tag Q3_24_NHS_review was removed from gene: NFASC.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	NUDT2	Sarah Leigh Tag Q3_24_promote_green was removed from gene: NUDT2. Tag Q3_24_NHS_review was removed from gene: NUDT2.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	EMILIN1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: EMILIN1. Tag Q3_24_NHS_review was removed from gene: EMILIN1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ERCC6	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ERCC6. Tag Q3_24_NHS_review was removed from gene: ERCC6.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ERCC8	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ERCC8. Tag Q3_24_NHS_review was removed from gene: ERCC8.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ETFDH	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ETFDH. Tag Q3_24_NHS_review was removed from gene: ETFDH.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	EXOSC3	Sarah Leigh Tag Q3_24_promote_green was removed from gene: EXOSC3. Tag Q3_24_NHS_review was removed from gene: EXOSC3.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	FA2H	Sarah Leigh Tag Q3_24_promote_green was removed from gene: FA2H. Tag Q3_24_NHS_review was removed from gene: FA2H.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	FAH	Sarah Leigh Tag Q3_24_promote_green was removed from gene: FAH. Tag Q3_24_NHS_review was removed from gene: FAH.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	FAM126A	Sarah Leigh Tag Q3_24_promote_green was removed from gene: FAM126A. Tag Q3_24_NHS_review was removed from gene: FAM126A.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	FDXR	Sarah Leigh Tag Q3_24_promote_green was removed from gene: FDXR. Tag Q3_24_NHS_review was removed from gene: FDXR.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	FICD	Sarah Leigh Tag Q3_24_promote_green was removed from gene: FICD.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	CTDP1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: CTDP1. Tag Q3_24_NHS_review was removed from gene: CTDP1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	CYP2U1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: CYP2U1. Tag Q3_24_NHS_review was removed from gene: CYP2U1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	DARS2	Sarah Leigh Tag Q3_24_promote_green was removed from gene: DARS2. Tag Q3_24_NHS_review was removed from gene: DARS2.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	DHH	Sarah Leigh Tag Q3_24_promote_green was removed from gene: DHH. Tag Q3_24_NHS_review was removed from gene: DHH.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	DMXL2	Sarah Leigh Tag Q3_24_promote_green was removed from gene: DMXL2. Tag Q3_24_NHS_review was removed from gene: DMXL2.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	COA7	Sarah Leigh Tag Q3_24_promote_green was removed from gene: COA7. Tag Q3_24_NHS_review was removed from gene: COA7.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	CNTNAP1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: CNTNAP1. Tag Q3_24_NHS_review was removed from gene: CNTNAP1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	CLP1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: CLP1. Tag Q3_24_NHS_review was removed from gene: CLP1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	CD59	Sarah Leigh Tag Q3_24_promote_green was removed from gene: CD59. Tag Q3_24_NHS_review was removed from gene: CD59.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	CAPN1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: CAPN1. Tag Q3_24_NHS_review was removed from gene: CAPN1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	C12orf65	Sarah Leigh Tag Q3_24_promote_green was removed from gene: C12orf65. Tag Q3_24_NHS_review was removed from gene: C12orf65.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	BAG3	Sarah Leigh Tag Q3_24_promote_green was removed from gene: BAG3. Tag Q3_24_NHS_review was removed from gene: BAG3.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ATP13A2	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ATP13A2. Tag Q3_24_NHS_review was removed from gene: ATP13A2.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ATM	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ATM. Tag Q3_24_NHS_review was removed from gene: ATM.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ATL3	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ATL3. Tag Q3_24_NHS_review was removed from gene: ATL3.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ATAD3A	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ATAD3A. Tag Q3_24_NHS_review was removed from gene: ATAD3A.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ASAH1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ASAH1. Tag Q3_24_NHS_review was removed from gene: ASAH1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ARSA	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ARSA. Tag Q3_24_NHS_review was removed from gene: ARSA.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ARL6IP1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ARL6IP1. Tag Q3_24_NHS_review was removed from gene: ARL6IP1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	APTX	Sarah Leigh Tag Q3_24_promote_green was removed from gene: APTX. Tag Q3_24_NHS_review was removed from gene: APTX.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	AP5Z1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: AP5Z1. Tag Q3_24_NHS_review was removed from gene: AP5Z1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	AP1S1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: AP1S1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	AMACR	Sarah Leigh Tag Q3_24_promote_green was removed from gene: AMACR. Tag Q3_24_NHS_review was removed from gene: AMACR.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ADPRHL2	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ADPRHL2. Tag Q3_24_NHS_review was removed from gene: ADPRHL2.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ADGRG6	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ADGRG6. Tag Q3_24_NHS_review was removed from gene: ADGRG6.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ADCY6	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ADCY6. Tag Q3_24_NHS_review was removed from gene: ADCY6.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ADA2	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ADA2. Tag Q3_24_NHS_review was removed from gene: ADA2.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ABCD1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: ABCD1. Tag Q3_24_NHS_review was removed from gene: ABCD1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	AAAS	Sarah Leigh Tag Q3_24_promote_green was removed from gene: AAAS. Tag Q3_24_NHS_review was removed from gene: AAAS.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	FLVCR1	Sarah Leigh Tag Q3_24_promote_green was removed from gene: FLVCR1. Tag Q3_24_NHS_review was removed from gene: FLVCR1.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	TTPA	Sarah Leigh Tag Q3_24_promote_green was removed from gene: TTPA. Tag Q3_24_NHS_review was removed from gene: TTPA.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	TWNK	Sarah Leigh Tag Q3_24_promote_green was removed from gene: TWNK. Tag Q3_24_NHS_review was removed from gene: TWNK.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	TUBB3	Sarah Leigh Tag Q3_24_promote_green was removed from gene: TUBB3. Tag Q3_24_NHS_review was removed from gene: TUBB3.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ZFYVE26	Sarah Leigh reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	XPA	Sarah Leigh reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	VPS13D	Sarah Leigh reviewed gene: VPS13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	UCHL1	Sarah Leigh reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	TWNK	Sarah Leigh reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	TUBB3	Sarah Leigh reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	TTPA	Sarah Leigh commented on gene: TTPA: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	TRMT5	Sarah Leigh reviewed gene: TRMT5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	TBCE	Sarah Leigh reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	SPAST	Sarah Leigh reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	SOX10	Sarah Leigh reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	SAMD9L	Sarah Leigh reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PTRH2	Sarah Leigh reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PRNP	Sarah Leigh reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	POLG	Sarah Leigh reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PNPT1	Sarah Leigh reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PLA2G6	Sarah Leigh reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PLA2G16	Sarah Leigh reviewed gene: PLA2G16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PIEZO2	Sarah Leigh reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PHYH	Sarah Leigh reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	PDHA1	Sarah Leigh reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	OPA3	Sarah Leigh reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	NUDT2	Sarah Leigh reviewed gene: NUDT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	NFASC	Sarah Leigh reviewed gene: NFASC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	NDUFS6	Sarah Leigh reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	NDC1	Sarah Leigh edited their review of gene: NDC1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	NARS	Sarah Leigh reviewed gene: NARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	HPDL	Sarah Leigh reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	HADHB	Sarah Leigh reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	HADHA	Sarah Leigh reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	GLA	Sarah Leigh commented on gene: GLA: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	FLVCR1	Sarah Leigh edited their review of gene: FLVCR1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	FICD	Sarah Leigh reviewed gene: FICD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	FDXR	Sarah Leigh reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	FAM126A	Sarah Leigh commented on gene: FAM126A: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	FAH	Sarah Leigh commented on gene: FAH: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	FA2H	Sarah Leigh reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	EXOSC3	Sarah Leigh reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ETFDH	Sarah Leigh commented on gene: ETFDH: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ERCC8	Sarah Leigh edited their review of gene: ERCC8: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ERCC6	Sarah Leigh commented on gene: ERCC6: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	EMILIN1	Sarah Leigh reviewed gene: EMILIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	DMXL2	Sarah Leigh edited their review of gene: DMXL2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	DHH	Sarah Leigh edited their review of gene: DHH: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	DARS2	Sarah Leigh commented on gene: DARS2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	CYP2U1	Sarah Leigh commented on gene: CYP2U1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	CTDP1	Sarah Leigh commented on gene: CTDP1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	COA7	Sarah Leigh commented on gene: COA7: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	CNTNAP1	Sarah Leigh commented on gene: CNTNAP1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	CLP1	Sarah Leigh commented on gene: CLP1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	CD59	Sarah Leigh commented on gene: CD59: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	CAPN1	Sarah Leigh commented on gene: CAPN1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	C12orf65	Sarah Leigh commented on gene: C12orf65: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	BAG3	Sarah Leigh commented on gene: BAG3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ATP13A2	Sarah Leigh commented on gene: ATP13A2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ATM	Sarah Leigh commented on gene: ATM: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ATL3	Sarah Leigh commented on gene: ATL3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ATAD3A	Sarah Leigh commented on gene: ATAD3A: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ASAH1	Sarah Leigh commented on gene: ASAH1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ARSA	Sarah Leigh edited their review of gene: ARSA: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ARL6IP1	Sarah Leigh commented on gene: ARL6IP1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	APTX	Sarah Leigh edited their review of gene: APTX: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	AP5Z1	Sarah Leigh commented on gene: AP5Z1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	AP1S1	Sarah Leigh reviewed gene: AP1S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	AMACR	Sarah Leigh edited their review of gene: AMACR: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ADPRHL2	Sarah Leigh edited their review of gene: ADPRHL2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ADGRG6	Sarah Leigh edited their review of gene: ADGRG6: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ADCY6	Sarah Leigh edited their review of gene: ADCY6: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ADA2	Sarah Leigh edited their review of gene: ADA2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	ABCD1	Sarah Leigh edited their review of gene: ABCD1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.148	AAAS	Sarah Leigh edited their review of gene: AAAS: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ZFYVE26	Sarah Leigh Source Expert Review Green was added to ZFYVE26. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	XPA	Sarah Leigh Source Expert Review Green was added to XPA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	VPS13D	Sarah Leigh Source NHS GMS was added to VPS13D. Source Expert Review Green was added to VPS13D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	UCHL1	Sarah Leigh Source NHS GMS was added to UCHL1. Source Expert Review Green was added to UCHL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	TWNK	Sarah Leigh Source Expert Review Green was added to TWNK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	TUBB3	Sarah Leigh Source Expert Review Green was added to TUBB3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	TTPA	Sarah Leigh Source Expert Review Green was added to TTPA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	TRMT5	Sarah Leigh Source NHS GMS was added to TRMT5. Source Expert Review Green was added to TRMT5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	TBCE	Sarah Leigh Source NHS GMS was added to TBCE. Source Expert Review Green was added to TBCE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	SPAST	Sarah Leigh Source Expert Review Green was added to SPAST. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	SOX10	Sarah Leigh Source Expert Review Green was added to SOX10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	SAMD9L	Sarah Leigh Source NHS GMS was added to SAMD9L. Source Expert Review Green was added to SAMD9L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	PTRH2	Sarah Leigh Source Expert Review Green was added to PTRH2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	PRNP	Sarah Leigh Source Expert Review Green was added to PRNP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	POLG	Sarah Leigh Source Expert Review Green was added to POLG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	PNPT1	Sarah Leigh Source NHS GMS was added to PNPT1. Source Expert Review Green was added to PNPT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	PLA2G6	Sarah Leigh Source NHS GMS was added to PLA2G6. Source Expert Review Green was added to PLA2G6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	PLA2G16	Sarah Leigh Source NHS GMS was added to PLA2G16. Source Expert Review Green was added to PLA2G16. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	PIEZO2	Sarah Leigh Source NHS GMS was added to PIEZO2. Source Expert Review Green was added to PIEZO2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	PHYH	Sarah Leigh Source Expert Review Green was added to PHYH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	PDHA1	Sarah Leigh Source Expert Review Green was added to PDHA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	OPA3	Sarah Leigh Source Expert Review Green was added to OPA3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	NUDT2	Sarah Leigh Source NHS GMS was added to NUDT2. Source Expert Review Green was added to NUDT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	NFASC	Sarah Leigh Source NHS GMS was added to NFASC. Source Expert Review Green was added to NFASC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	NDUFS6	Sarah Leigh Source NHS GMS was added to NDUFS6. Source Expert Review Green was added to NDUFS6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	NDC1	Sarah Leigh Source NHS GMS was added to NDC1. Source Expert Review Green was added to NDC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	NARS	Sarah Leigh Source NHS GMS was added to NARS. Source Expert Review Green was added to NARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	HPDL	Sarah Leigh Source NHS GMS was added to HPDL. Source Expert Review Green was added to HPDL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	HADHB	Sarah Leigh Source Expert Review Green was added to HADHB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	HADHA	Sarah Leigh Source Expert Review Green was added to HADHA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	GLA	Sarah Leigh Source Expert Review Green was added to GLA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	FLVCR1	Sarah Leigh Source Expert Review Green was added to FLVCR1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	FICD	Sarah Leigh Source NHS GMS was added to FICD. Source Expert Review Green was added to FICD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	FDXR	Sarah Leigh Source NHS GMS was added to FDXR. Source Expert Review Green was added to FDXR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	FAM126A	Sarah Leigh Source Expert Review Green was added to FAM126A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	FAH	Sarah Leigh Source Expert Review Green was added to FAH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	FA2H	Sarah Leigh Source Expert Review Green was added to FA2H. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	EXOSC3	Sarah Leigh Source NHS GMS was added to EXOSC3. Source Expert Review Green was added to EXOSC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ETFDH	Sarah Leigh Source Expert Review Green was added to ETFDH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ERCC8	Sarah Leigh Source Expert Review Green was added to ERCC8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ERCC6	Sarah Leigh Source Expert Review Green was added to ERCC6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	EMILIN1	Sarah Leigh Source NHS GMS was added to EMILIN1. Source Expert Review Green was added to EMILIN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	DMXL2	Sarah Leigh Source NHS GMS was added to DMXL2. Source Expert Review Green was added to DMXL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	DHH	Sarah Leigh Source Expert Review Green was added to DHH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	DARS2	Sarah Leigh Source Expert Review Green was added to DARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	CYP2U1	Sarah Leigh Source NHS GMS was added to CYP2U1. Source Expert Review Green was added to CYP2U1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	CTDP1	Sarah Leigh Source Expert Review Green was added to CTDP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	COA7	Sarah Leigh Source Expert Review Green was added to COA7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	CNTNAP1	Sarah Leigh Source Expert Review Green was added to CNTNAP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	CLP1	Sarah Leigh Source NHS GMS was added to CLP1. Source Expert Review Green was added to CLP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	CD59	Sarah Leigh Source Expert Review Green was added to CD59. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	CAPN1	Sarah Leigh Source NHS GMS was added to CAPN1. Source Expert Review Green was added to CAPN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	C12orf65	Sarah Leigh Source Expert Review Green was added to C12orf65. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	BAG3	Sarah Leigh Source Expert Review Green was added to BAG3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ATP13A2	Sarah Leigh Source NHS GMS was added to ATP13A2. Source Expert Review Green was added to ATP13A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ATM	Sarah Leigh Source Expert Review Green was added to ATM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ATL3	Sarah Leigh Source Expert Review Green was added to ATL3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ATAD3A	Sarah Leigh Source NHS GMS was added to ATAD3A. Source Expert Review Green was added to ATAD3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ASAH1	Sarah Leigh Source NHS GMS was added to ASAH1. Source Expert Review Green was added to ASAH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ARSA	Sarah Leigh Source Expert Review Green was added to ARSA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ARL6IP1	Sarah Leigh Source Expert Review Green was added to ARL6IP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	APTX	Sarah Leigh Source Expert Review Green was added to APTX. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	AP5Z1	Sarah Leigh Source NHS GMS was added to AP5Z1. Source Expert Review Green was added to AP5Z1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	AP1S1	Sarah Leigh Source Expert Review Green was added to AP1S1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	AMACR	Sarah Leigh Source NHS GMS was added to AMACR. Source Expert Review Green was added to AMACR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ADPRHL2	Sarah Leigh Source NHS GMS was added to ADPRHL2. Source Expert Review Green was added to ADPRHL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ADGRG6	Sarah Leigh Source NHS GMS was added to ADGRG6. Source Expert Review Green was added to ADGRG6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ADCY6	Sarah Leigh Source NHS GMS was added to ADCY6. Source Expert Review Green was added to ADCY6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ADA2	Sarah Leigh Source NHS GMS was added to ADA2. Source Expert Review Green was added to ADA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	ABCD1	Sarah Leigh Source NHS GMS was added to ABCD1. Source Expert Review Green was added to ABCD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.147	AAAS	Sarah Leigh Source NHS GMS was added to AAAS. Source Expert Review Green was added to AAAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Feb 2025	Hereditary neuropathy or pain disorder v6.146	MAPK8IP3	Sarah Leigh Tag Q3_24_promote_green was removed from gene: MAPK8IP3. Tag Q3_24_NHS_review was removed from gene: MAPK8IP3. Tag Q3_24_expert_review was removed from gene: MAPK8IP3.
24 Feb 2025	Hereditary neuropathy or pain disorder v6.146	MAPK8IP3	Sarah Leigh Publications for gene: MAPK8IP3 were set to 37462082: 30945334
24 Feb 2025	Hereditary neuropathy or pain disorder v6.145	MAPK8IP3	Sarah Leigh reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
06 Jan 2025	Hereditary neuropathy or pain disorder v6.145	FXN_GAA	Sarah Leigh Tag STR tag was added to STR: FXN_GAA.
06 Jan 2025	Hereditary neuropathy or pain disorder v6.145	FXN_GAA	Sarah Leigh Tag Q3_24_promote_green tag was added to STR: FXN_GAA. Tag Q3_24_NHS_review tag was added to STR: FXN_GAA.
06 Jan 2025	Hereditary neuropathy or pain disorder v6.145	FXN_GAA	Sarah Leigh Classified STR: FXN_GAA as Amber List (moderate evidence)
06 Jan 2025	Hereditary neuropathy or pain disorder v6.145	FXN_GAA	Sarah Leigh Str: fxn_gaa has been classified as Amber List (Moderate Evidence).
06 Jan 2025	Hereditary neuropathy or pain disorder v6.144	FXN_GAA	Sarah Leigh STR: FXN_GAA was added STR: FXN_GAA was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: FXN_GAA were set to Friedreich ataxia, OMIM:229300; Friedreich ataxia 1, MONDO:0100340 Review for STR: FXN_GAA was set to GREEN Added comment: This STR has been added to Hereditary neuropathy or pain disorder panel, on the recommendation of James Polke (Rare & Inherited Disease Genomic Laboratory, NHS North Thames GLH). Biallelic (including compound heterozygous) FXN variants, both single nucleotide and repeat expansions, have been associated with Friedreich ataxia, OMIM:229300. The STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service. Sources: NHS GMS
23 Dec 2024	Hereditary neuropathy or pain disorder v6.143	PIGG	Achchuthan Shanmugasundram Classified gene: PIGG as Amber List (moderate evidence)
23 Dec 2024	Hereditary neuropathy or pain disorder v6.143	PIGG	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Christopher Record, there are six unrelated families reported with biallelic PIGG variants and hereditary motor neuropathy. Hence, this gene can be promoted to green rating in the next GMS review.
23 Dec 2024	Hereditary neuropathy or pain disorder v6.143	PIGG	Achchuthan Shanmugasundram Gene: pigg has been classified as Amber List (Moderate Evidence).
23 Dec 2024	Hereditary neuropathy or pain disorder v6.142	PIGG	Achchuthan Shanmugasundram Phenotypes for gene: PIGG were changed from HMN to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917; childhood-onset motor neuropathy
23 Dec 2024	Hereditary neuropathy or pain disorder v6.141	PIGG	Achchuthan Shanmugasundram Tag Q4_24_NHS_review tag was added to gene: PIGG. Tag Q4_24_promote_green tag was added to gene: PIGG.
23 Dec 2024	Hereditary neuropathy or pain disorder v6.141	PIGG	Achchuthan Shanmugasundram reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: None; Publications: 39444079; Phenotypes: Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917, childhood-onset motor neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Dec 2024	Hereditary neuropathy or pain disorder v6.141	HPDL	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HPDL.
20 Nov 2024	Hereditary neuropathy or pain disorder v6.141	LRP12	Sarah Leigh Classified gene: LRP12 as Amber List (moderate evidence)
20 Nov 2024	Hereditary neuropathy or pain disorder v6.141	LRP12	Sarah Leigh Gene: lrp12 has been classified as Amber List (Moderate Evidence).
20 Nov 2024	Hereditary neuropathy or pain disorder v6.140	LRP12	Sarah Leigh Classified gene: LRP12 as Red List (low evidence)
20 Nov 2024	Hereditary neuropathy or pain disorder v6.140	LRP12	Sarah Leigh Gene: lrp12 has been classified as Red List (Low Evidence).
20 Nov 2024	Hereditary neuropathy or pain disorder v6.139	LRP12	Sarah Leigh edited their review of gene: LRP12: Added comment: Apart from the LRP12_CGG variant, no other LRP12 variants have been associated with conditions in OMIM, G2P or Mondo.; Changed rating: RED
20 Nov 2024	Hereditary neuropathy or pain disorder v6.139	NOTCH2NL	Sarah Leigh Classified gene: NOTCH2NL as Red List (low evidence)
20 Nov 2024	Hereditary neuropathy or pain disorder v6.139	NOTCH2NL	Sarah Leigh Gene: notch2nl has been classified as Red List (Low Evidence).
20 Nov 2024	Hereditary neuropathy or pain disorder v6.138	NOTCH2NL	Sarah Leigh reviewed gene: NOTCH2NL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
19 Nov 2024	Hereditary neuropathy or pain disorder v6.138	NDC1	Achchuthan Shanmugasundram Tag Q3_24_MOI was removed from gene: NDC1.
18 Nov 2024	Hereditary neuropathy or pain disorder v6.138	LRP12_CGG	Sarah Leigh Classified STR: LRP12_CGG as Amber List (moderate evidence)
18 Nov 2024	Hereditary neuropathy or pain disorder v6.138	LRP12_CGG	Sarah Leigh Added comment: Comment on list classification: This STR is rated as amber, because it is not yet NGS validated.
18 Nov 2024	Hereditary neuropathy or pain disorder v6.138	LRP12_CGG	Sarah Leigh Str: lrp12_cgg has been classified as Amber List (Moderate Evidence).
18 Nov 2024	Hereditary neuropathy or pain disorder v6.137	LRP12_CGG	Sarah Leigh Tag STR tag was added to STR: LRP12_CGG. Tag NGS Not Validated tag was added to STR: LRP12_CGG.
14 Nov 2024	Hereditary neuropathy or pain disorder v6.137	MAPK8IP3	Eleanor Williams Classified gene: MAPK8IP3 as Amber List (moderate evidence)
14 Nov 2024	Hereditary neuropathy or pain disorder v6.137	MAPK8IP3	Eleanor Williams Added comment: Comment on list classification: Promoting to amber and tagging for promotion to green, but GLH expert review is needed to decide whether there is clear enough mode of inheritance data and a strong enough association with neuropathy to report diagnostically particularly for people with isolated neuropathy presentations who are more likely to be tested via this route.
14 Nov 2024	Hereditary neuropathy or pain disorder v6.137	MAPK8IP3	Eleanor Williams Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).
14 Nov 2024	Hereditary neuropathy or pain disorder v6.136	MAPK8IP3	Eleanor Williams Phenotypes for gene: MAPK8IP3 were changed from developmental delay; motor axonal neuropathy to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443; neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, MONDO:0032755
14 Nov 2024	Hereditary neuropathy or pain disorder v6.135	MAPK8IP3	Eleanor Williams Mode of inheritance for gene: MAPK8IP3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Nov 2024	Hereditary neuropathy or pain disorder v6.134	MAPK8IP3	Eleanor Williams Tag Q3_24_promote_green tag was added to gene: MAPK8IP3. Tag Q3_24_NHS_review tag was added to gene: MAPK8IP3. Tag Q3_24_expert_review tag was added to gene: MAPK8IP3.
14 Nov 2024	Hereditary neuropathy or pain disorder v6.134	MT-ND6	Achchuthan Shanmugasundram Classified gene: MT-ND6 as Red List (low evidence)
14 Nov 2024	Hereditary neuropathy or pain disorder v6.134	MT-ND6	Achchuthan Shanmugasundram Gene: mt-nd6 has been classified as Red List (Low Evidence).
14 Nov 2024	Hereditary neuropathy or pain disorder v6.133	MT-ND6	Achchuthan Shanmugasundram Publications for gene: MT-ND6 were set to PMID: 20301353
14 Nov 2024	Hereditary neuropathy or pain disorder v6.132	MT-ND6	Achchuthan Shanmugasundram Phenotypes for gene: MT-ND6 were changed from LHON; peripheral neuropathy to Leber hereditary optic neuropathy
14 Nov 2024	Hereditary neuropathy or pain disorder v6.131	MT-ND6	Achchuthan Shanmugasundram reviewed gene: MT-ND6: Rating: RED; Mode of pathogenicity: None; Publications: 17724295, 20301353, 27111573, 38975939; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
14 Nov 2024	Hereditary neuropathy or pain disorder v6.131	PIGG	Christopher Record gene: PIGG was added gene: PIGG was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGG were set to 39444079 Phenotypes for gene: PIGG were set to HMN Review for gene: PIGG was set to GREEN Added comment: Recessive variants in PIGG cause a inherited motor neuropathy with conduction block and/or temporal dispersion (39444079). This can be a pure neuropathy of part of a wider IGD syndrome to include cerebellar features, developmental delay, intellectual disability. Sources: Literature
14 Nov 2024	Hereditary neuropathy or pain disorder v6.131	LRP12_CGG	Christopher Record STR: LRP12_CGG was added STR: LRP12_CGG was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for STR: LRP12_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: LRP12_CGG were set to 39013564 Phenotypes for STR: LRP12_CGG were set to CMT2, HMN Review for STR: LRP12_CGG was set to GREEN Added comment: CGG repeat expansion as cause for autosomal dominant inherited neuropathy in 44 Japanese patients STR only Sources: Literature
14 Nov 2024	Hereditary neuropathy or pain disorder v6.131	NOTCH2NL	Christopher Record gene: NOTCH2NL was added gene: NOTCH2NL was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: NOTCH2NL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2NL were set to 36948577; 37749855; 34675106 Mode of pathogenicity for gene: NOTCH2NL was set to Other Review for gene: NOTCH2NL was set to GREEN Added comment: [NB NOTCH2NL selected from gene drop down as NOTCH2NLC not available] NOTCH2NLC GGC repeat expansion Reported pure CMT in 26 cases from Japan (36948577), and 7cases from Taiwan (34675106). Chinese NOTC2NLC related NIID cohort also showed peripheral neuropathy in significant proportion (37749855). Anecdotally found in family with CMT of European ancestry (unpublished). Phenotypes included CMT2, CMTi and HMN Sources: Literature
14 Nov 2024	Hereditary neuropathy or pain disorder v6.131	LRP12	Christopher Record reviewed gene: LRP12: Rating: GREEN; Mode of pathogenicity: Other; Publications: 39013564; Phenotypes: CMT2, HMN; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Nov 2024	Hereditary neuropathy or pain disorder v6.131	PNPT1	Zornitza Stark reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Nov 2024	Hereditary neuropathy or pain disorder v6.131	SPAST	Arina Puzriakova Classified gene: SPAST as Amber List (moderate evidence)
06 Nov 2024	Hereditary neuropathy or pain disorder v6.131	SPAST	Arina Puzriakova Added comment: Comment on list classification: Axonal peripheral polyneuropathy was reported in at least 8 individuals with SPAST-related HSP (PMID:28572275) and has been recommended for this panel by Alex Rossor (UCL). The scope of this panel has now been expanded to include complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.131	SPAST	Arina Puzriakova Gene: spast has been classified as Amber List (Moderate Evidence).
06 Nov 2024	Hereditary neuropathy or pain disorder v6.130	OPA3	Eleanor Williams Phenotypes for gene: OPA3 were changed from Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction; Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501 to Optic atrophy 3 with cataract, OMIM:165300; optic atrophy 3, MONDO:0008133
06 Nov 2024	Hereditary neuropathy or pain disorder v6.129	OPA3	Eleanor Williams Publications for gene: OPA3 were set to
06 Nov 2024	Hereditary neuropathy or pain disorder v6.128	OPA3	Eleanor Williams Added comment: Comment on mode of inheritance: Cases with peripheral neuropathy appear to be associated with autosomal dominant Optic atrophy 3 with cataract. This gene is also associated with a recessive condition in OMIM.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.128	OPA3	Eleanor Williams Mode of inheritance for gene: OPA3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
06 Nov 2024	Hereditary neuropathy or pain disorder v6.127	OPA3	Eleanor Williams Tag Q3_24_promote_green tag was added to gene: OPA3. Tag Q3_24_NHS_review tag was added to gene: OPA3.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.127	OPA3	Eleanor Williams changed review comment from: Associated with 3-methylglutaconic aciduria, type III, OMIM:258501 (AR) and Optic atrophy 3 with cataract, OMIM:165300 (AD). PMID:28050599 - Bourne et al 2017 - 1 case - woman with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a OPA3 c.235C > G p.(Leu79Val) variant that was confirmed to be de novo. The variant is not reported in gnomAD. PMID: 31119193 - Horga et al 2019 - describe 2 families and one sporadic case with a syndromic form of OPA3-related autosomal dominant optic atrophy and cataract in which patients also show peripheral neuropathy. Heterozyous variants in OPA3 were identified c.23T>C (p.Met8Thr), c.313C>G (p.Gln105Glu) and c.313C>G (p.Gln105Glu) in each of the 3 families. In In 4 patients, the peripheral neuropathy was a major cause of disability or was severe enough to motivate the referral to specialists. PMID:21036400 - Yu-Wai-Man et al 2011 - no patients with OPA3 variants reported, only OPA1 variants.; to: Associated with 3-methylglutaconic aciduria, type III, OMIM:258501 (AR) and Optic atrophy 3 with cataract, OMIM:165300 (AD). PMID:28050599 - Bourne et al 2017 - 1 case - woman with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a OPA3 c.235C > G p.(Leu79Val) variant that was confirmed to be de novo. The variant is not reported in gnomAD. PMID: 31119193 - Horga et al 2019 - describe 2 families and one sporadic case with a syndromic form of OPA3-related autosomal dominant optic atrophy and cataract in which patients also show peripheral neuropathy. Heterozyous variants in OPA3 were identified c.23T>C (p.Met8Thr), c.313C>G (p.Gln105Glu) and c.313C>G (p.Gln105Glu) in each of the 3 families. In 4 patients, the peripheral neuropathy was a major cause of disability or was severe enough to motivate the referral to specialists. PMID:21036400 - Yu-Wai-Man et al 2011 - no patients with OPA3 variants reported, only OPA1 variants.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.127	OPA3	Eleanor Williams reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28050599, 31119193; Phenotypes: Optic atrophy 3 with cataract, OMIM:165300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
06 Nov 2024	Hereditary neuropathy or pain disorder v6.127	SPAST	Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: SPAST. Tag Q3_24_NHS_review tag was added to gene: SPAST.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.127	PRNP	Arina Puzriakova Classified gene: PRNP as Amber List (moderate evidence)
06 Nov 2024	Hereditary neuropathy or pain disorder v6.127	PRNP	Arina Puzriakova Added comment: Comment on list classification: Neuropathy (predominantly sensory and autonomic) has been reported in at least 7 unrelated families with PRNP-related prion disease, which can present as an early and/or isolated feature. The scope of this panel has now been expanded to include complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.127	PRNP	Arina Puzriakova Gene: prnp has been classified as Amber List (Moderate Evidence).
06 Nov 2024	Hereditary neuropathy or pain disorder v6.126	PRNP	Arina Puzriakova Phenotypes for gene: PRNP were changed from to Creutzfeldt-Jakob disease, OMIM:123400; dementia; autonomic neuropathy; sensory neuropathy
06 Nov 2024	Hereditary neuropathy or pain disorder v6.125	PRNP	Arina Puzriakova Publications for gene: PRNP were set to 24224623
06 Nov 2024	Hereditary neuropathy or pain disorder v6.124	PRNP	Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: PRNP. Tag Q3_24_NHS_review tag was added to gene: PRNP.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.124	POLG	Achchuthan Shanmugasundram Classified gene: POLG as Amber List (moderate evidence)
06 Nov 2024	Hereditary neuropathy or pain disorder v6.124	POLG	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, peripheral neuropathy is a well-established feature of POLG disease and hence this gene should be promoted to green rating in the next GMS update.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.124	POLG	Achchuthan Shanmugasundram Gene: polg has been classified as Amber List (Moderate Evidence).
06 Nov 2024	Hereditary neuropathy or pain disorder v6.123	POLG	Achchuthan Shanmugasundram Phenotypes for gene: POLG were changed from sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); Mitochondrial DNA depletion syndrome 4A (Alpers type); Cardiomyopathy; Progressive external ophthalmoplegia, autosomal recessive 1; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Mitochondrial DNA depletion syndrome 4B (MNGIE type) to Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459; Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640; Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450
06 Nov 2024	Hereditary neuropathy or pain disorder v6.122	POLG	Achchuthan Shanmugasundram Publications for gene: POLG were set to
06 Nov 2024	Hereditary neuropathy or pain disorder v6.121	POLG	Achchuthan Shanmugasundram edited their review of gene: POLG: Changed publications to: 12975295, 15534189, 19752458, 25281868, 33791913, 36703500, 38975049
06 Nov 2024	Hereditary neuropathy or pain disorder v6.121	POLG	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: POLG. Tag Q3_24_NHS_review tag was added to gene: POLG.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.121	POLG	Achchuthan Shanmugasundram changed review comment from: PMID:25281868 reported 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmoplegia, of which 16 patients had a large-fibre peripheral neuropathy. Eight of them were identified with biallelic PLOG variants and one of them was identified with POLG monoallelic variant. PMID:33791913 reported a patient with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) and was identified with two novel missense variants. A systematic review of previous literature in this publication summarised a total of 35 distinct variants from POLG are reported in 63 patients with SANDO. All of them had the variants either in homozygous or compound heterozygous state. PMID:36703500 reported gait disturbance related to sensory ataxia and oculomotor abnormalities in four patients with biallelic POLG variants. They all had sensory axonal neuropathy. PMID:38975049 reported a retrospective study of 40 children carrying biallelic pathogenic POLG variants, of which sensorimotor axonal neuropathy was present in eight children (20%) and polyradiculoneuropathy was present in six children (15%). ; to: PMID:12975295 reported four unrelated patients with progressive external ophthalmoplegia (PEO) and with POLG variants. Of three patients with heterozygous variants, one had neuropathy and the only patient with compound heterozygous variants also had neuropathy. PMID:15534189 reported a family with monoallelic missense variant in POLG gene and with progressive external ophthalmoplegia, neuropathy, hypogonadism, and parkinsonism. PMID:19752458 reported 26 patients from 23 families with cerebellar ataxia plus sensory neuropathy or external ophthalmoplegia. Of these 15 patients from 11 families were identified with POLG variants, of which four patients from two families had heterozygous variants and 11 patients from nine families had either homozygous or compound heterozygous variants. PMID:25281868 reported 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmoplegia, of which 16 patients had a large-fibre peripheral neuropathy. Eight of them were identified with biallelic PLOG variants and one of them was identified with POLG monoallelic variant. PMID:33791913 reported a patient with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) and was identified with two novel missense variants. A systematic review of previous literature in this publication summarised a total of 35 distinct variants from POLG are reported in 63 patients with SANDO. All of them had the variants either in homozygous or compound heterozygous state. PMID:36703500 reported gait disturbance related to sensory ataxia and oculomotor abnormalities in four patients with biallelic POLG variants. They all had sensory axonal neuropathy. PMID:38975049 reported a retrospective study of 40 children carrying biallelic pathogenic POLG variants, of which sensorimotor axonal neuropathy was present in eight children (20%) and polyradiculoneuropathy was present in six children (15%). Both monoallelic and biallelic variants of this gene are associated with relevant phenotypes in OMIM and Gene2Phenotype (DD and eye panels) and OMIM records neuropathy as a clinical presentation of all but one phenotypes.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.121	TUBB3	Arina Puzriakova Publications for gene: TUBB3 were set to
06 Nov 2024	Hereditary neuropathy or pain disorder v6.120	TUBB3	Arina Puzriakova Classified gene: TUBB3 as Amber List (moderate evidence)
06 Nov 2024	Hereditary neuropathy or pain disorder v6.120	TUBB3	Arina Puzriakova Added comment: Comment on list classification: Peripheral neuropathy has been reported >3 unrelated cases with CFEOM3A and one family with multiple mutant carriers had isolated peripheral neuropathy (PMID: 20074521). The scope of this panel has now been expanded to complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.120	TUBB3	Arina Puzriakova Gene: tubb3 has been classified as Amber List (Moderate Evidence).
06 Nov 2024	Hereditary neuropathy or pain disorder v6.119	TUBB3	Arina Puzriakova Phenotypes for gene: TUBB3 were changed from CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES; CFEOM3A; Fibrosis of extraocular muscles, congenital, 3A to Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638; CFEOM3A
06 Nov 2024	Hereditary neuropathy or pain disorder v6.118	TUBB3	Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: TUBB3. Tag Q3_24_NHS_review tag was added to gene: TUBB3.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.118	POLG	Achchuthan Shanmugasundram edited their review of gene: POLG: Changed publications to: 12975295, 25281868, 33791913, 36703500, 38975049; Changed phenotypes to: Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459, Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640, Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450
06 Nov 2024	Hereditary neuropathy or pain disorder v6.118	POLG	Achchuthan Shanmugasundram edited their review of gene: POLG: Changed publications to: 25281868, 33791913, 36703500, 38975049; Changed phenotypes to: Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459'
06 Nov 2024	Hereditary neuropathy or pain disorder v6.118	POLG	Achchuthan Shanmugasundram changed review comment from: PMID:25281868 reported 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmoplegia, of which 16 patients had a large-fibre peripheral neuropathy. Eight of them were identified with biallelic PLOG variants and one of them was identified with POLG monoallelic variant. PMID:33791913 reported a patient with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) and was identified with two novel missense variants. A systematic review of previous literature in this publication summarised a total of 35 distinct variants from POLG are reported in 63 patients with SANDO. All of them had the variants either in homozygous or compound heterozygous state.; to: PMID:25281868 reported 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmoplegia, of which 16 patients had a large-fibre peripheral neuropathy. Eight of them were identified with biallelic PLOG variants and one of them was identified with POLG monoallelic variant. PMID:33791913 reported a patient with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) and was identified with two novel missense variants. A systematic review of previous literature in this publication summarised a total of 35 distinct variants from POLG are reported in 63 patients with SANDO. All of them had the variants either in homozygous or compound heterozygous state. PMID:36703500 reported gait disturbance related to sensory ataxia and oculomotor abnormalities in four patients with biallelic POLG variants. They all had sensory axonal neuropathy. PMID:38975049 reported a retrospective study of 40 children carrying biallelic pathogenic POLG variants, of which sensorimotor axonal neuropathy was present in eight children (20%) and polyradiculoneuropathy was present in six children (15%).
06 Nov 2024	Hereditary neuropathy or pain disorder v6.118	TWNK	Arina Puzriakova Phenotypes for gene: TWNK were changed from Hereditary Neuropathies; Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR); Perrault syndrome 5, OMIM:616138 (AR); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD)
06 Nov 2024	Hereditary neuropathy or pain disorder v6.117	TWNK	Arina Puzriakova Publications for gene: TWNK were set to
06 Nov 2024	Hereditary neuropathy or pain disorder v6.116	TWNK	Arina Puzriakova Classified gene: TWNK as Amber List (moderate evidence)
06 Nov 2024	Hereditary neuropathy or pain disorder v6.116	TWNK	Arina Puzriakova Added comment: Comment on list classification: TWNK is associated with multiple phenotypes that feature peripheral neuropathy (Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR); Perrault syndrome 5, OMIM:616138 (AR); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD)) - sufficient cases with dominant and recessive forms of disease to support the association. The scope of this panel has now been expanded to complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.116	TWNK	Arina Puzriakova Gene: twnk has been classified as Amber List (Moderate Evidence).
06 Nov 2024	Hereditary neuropathy or pain disorder v6.115	TWNK	Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: TWNK. Tag Q3_24_NHS_review tag was added to gene: TWNK.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.115	POLG	Achchuthan Shanmugasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 25281868; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Nov 2024	Hereditary neuropathy or pain disorder v6.115	XPA	Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: XPA. Tag Q3_24_NHS_review tag was added to gene: XPA.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.115	XPA	Arina Puzriakova Publications for gene: XPA were set to 2168777
06 Nov 2024	Hereditary neuropathy or pain disorder v6.114	XPA	Arina Puzriakova Classified gene: XPA as Amber List (moderate evidence)
06 Nov 2024	Hereditary neuropathy or pain disorder v6.114	XPA	Arina Puzriakova Added comment: Comment on list classification: Peripheral neuropathy is a reported feature in at least 8 unrelated families with xeroderma pigmentosum. The scope of this panel has now been expanded to complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
06 Nov 2024	Hereditary neuropathy or pain disorder v6.114	XPA	Arina Puzriakova Gene: xpa has been classified as Amber List (Moderate Evidence).
05 Nov 2024	Hereditary neuropathy or pain disorder v6.113	SOX10	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (more than six unrelated cases) for the association of monoallelic SOX10 variants with demyelinating peripheral neuropathy. Hence, this gene can be promoted to green rating on the next GMS update.; to: Comment on list classification: There is sufficient evidence available (more than six unrelated cases) for the association of monoallelic SOX10 variants with demyelinating peripheral neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.113	SOX10	Achchuthan Shanmugasundram Deleted their comment
05 Nov 2024	Hereditary neuropathy or pain disorder v6.113	SOX10	Achchuthan Shanmugasundram Classified gene: SOX10 as Amber List (moderate evidence)
05 Nov 2024	Hereditary neuropathy or pain disorder v6.113	SOX10	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (more than six unrelated cases) for the association of monoallelic SOX10 variants with demyelinating peripheral neuropathy. Hence, this gene can be promoted to green rating on the next GMS update.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.113	SOX10	Achchuthan Shanmugasundram Gene: sox10 has been classified as Amber List (Moderate Evidence).
05 Nov 2024	Hereditary neuropathy or pain disorder v6.112	SOX10	Achchuthan Shanmugasundram Classified gene: SOX10 as Amber List (moderate evidence)
05 Nov 2024	Hereditary neuropathy or pain disorder v6.112	SOX10	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (more than six unrelated cases) for the association of monoallelic SOX10 variants with demyelinating peripheral neuropathy. Hence, this gene can be promoted to green rating on the next GMS update.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.112	SOX10	Achchuthan Shanmugasundram Gene: sox10 has been classified as Amber List (Moderate Evidence).
05 Nov 2024	Hereditary neuropathy or pain disorder v6.111	SOX10	Achchuthan Shanmugasundram Phenotypes for gene: SOX10 were changed from Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease to PCWH syndrome, OMIM:609136
05 Nov 2024	Hereditary neuropathy or pain disorder v6.110	SOX10	Achchuthan Shanmugasundram Publications for gene: SOX10 were set to 21898658
05 Nov 2024	Hereditary neuropathy or pain disorder v6.109	SOX10	Achchuthan Shanmugasundram Mode of inheritance for gene: SOX10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Nov 2024	Hereditary neuropathy or pain disorder v6.108	SOX10	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SOX10. Tag Q3_24_NHS_review tag was added to gene: SOX10.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.108	SOX10	Achchuthan Shanmugasundram reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 15004559, 29681101, 32150337; Phenotypes: PCWH syndrome, OMIM:609136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Nov 2024	Hereditary neuropathy or pain disorder v6.108	TTPA	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: TTPA. Tag Q3_24_NHS_review tag was added to gene: TTPA.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.108	TTPA	Sarah Leigh reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Nov 2024	Hereditary neuropathy or pain disorder v6.108	TTPA	Sarah Leigh Phenotypes for gene: TTPA were changed from Hereditary Neuropathies; Early onset ataxia and sensory axonal neuropathy similar to Friedreich ataxia, head titubation, normal fat absorption unlike abetalipoproteinaemia, rarely retinitis pigmentosa to Ataxia with isolated vitamin E deficiency, OMIM:277460; familial isolated deficiency of vitamin E MONDO:0010188
05 Nov 2024	Hereditary neuropathy or pain disorder v6.107	TTPA	Sarah Leigh Publications for gene: TTPA were set to
05 Nov 2024	Hereditary neuropathy or pain disorder v6.106	GLA	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: GLA. Tag Q3_24_NHS_review tag was added to gene: GLA.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.106	GLA	Sarah Leigh reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
05 Nov 2024	Hereditary neuropathy or pain disorder v6.106	GLA	Sarah Leigh Phenotypes for gene: GLA were changed from Cardiomyopathy to Fabry disease, OMIM:301500; Fabry disease, cardiac variant, OMIM:301500; Fabry disease, MONDO:0010526
05 Nov 2024	Hereditary neuropathy or pain disorder v6.105	GLA	Sarah Leigh Publications for gene: GLA were set to
05 Nov 2024	Hereditary neuropathy or pain disorder v6.104	FLVCR1	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: FLVCR1. Tag Q3_24_NHS_review tag was added to gene: FLVCR1.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.104	FLVCR1	Sarah Leigh reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
05 Nov 2024	Hereditary neuropathy or pain disorder v6.104	FLVCR1	Sarah Leigh Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033 to Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033; posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
05 Nov 2024	Hereditary neuropathy or pain disorder v6.103	FLVCR1	Sarah Leigh Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, 609033; Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI to Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033
05 Nov 2024	Hereditary neuropathy or pain disorder v6.102	FLVCR1	Sarah Leigh Publications for gene: FLVCR1 were set to 21070897
05 Nov 2024	Hereditary neuropathy or pain disorder v6.101	FAM126A	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: FAM126A. Tag Q3_24_NHS_review tag was added to gene: FAM126A.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.101	FAM126A	Sarah Leigh reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Nov 2024	Hereditary neuropathy or pain disorder v6.101	FAM126A	Sarah Leigh Publications for gene: FAM126A were set to 16951682; 23998934; 21911699; 33531944; 22749724:
05 Nov 2024	Hereditary neuropathy or pain disorder v6.100	AP1S1	Arina Puzriakova Publications for gene: AP1S1 were set to 19057675
05 Nov 2024	Hereditary neuropathy or pain disorder v6.99	XPA	Arina Puzriakova Phenotypes for gene: XPA were changed from Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy; Xeroderma pigmentosum, group A, 278700 to Xeroderma pigmentosum, group A, OMIM:278700; Sensory-motor axonal peripheral neuropathy
05 Nov 2024	Hereditary neuropathy or pain disorder v6.98	PHYH	Achchuthan Shanmugasundram Classified gene: PHYH as Amber List (moderate evidence)
05 Nov 2024	Hereditary neuropathy or pain disorder v6.98	PHYH	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, peripheral neuropathy is a part of Refsum disease (MIM #266500). OMIM record lists peripheral sensorimotor neuropathy as one of the clinical manifestations. In addition, PMID:20301527 reports that polyneuropathy is present in ~70% of cases with Refsum disease. Hence, this gene can be promoted to green rating in the next GMS update.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.98	PHYH	Achchuthan Shanmugasundram Gene: phyh has been classified as Amber List (Moderate Evidence).
05 Nov 2024	Hereditary neuropathy or pain disorder v6.97	PHYH	Achchuthan Shanmugasundram Phenotypes for gene: PHYH were changed from Hereditary Neuropathies to Refsum disease, OMIM:266500
05 Nov 2024	Hereditary neuropathy or pain disorder v6.96	PHYH	Achchuthan Shanmugasundram Publications for gene: PHYH were set to
05 Nov 2024	Hereditary neuropathy or pain disorder v6.95	PHYH	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PHYH. Tag Q3_24_NHS_review tag was added to gene: PHYH.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.95	PHYH	Achchuthan Shanmugasundram reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: 2433405, 9326940, 10767344, 20301527; Phenotypes: Refsum disease, OMIM:266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Nov 2024	Hereditary neuropathy or pain disorder v6.95	HADHB	Achchuthan Shanmugasundram Classified gene: HADHB as Amber List (moderate evidence)
05 Nov 2024	Hereditary neuropathy or pain disorder v6.95	HADHB	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, mitochondrial trifunctional protein deficiency 2 (MIM #620300) includes peripheral neuropathy as one of the clinical manifestations. There are more than three unrelated cases reported with neuropathy in literature. Hence, this gene can be promoted to green rating in the next GMS update.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.95	HADHB	Achchuthan Shanmugasundram Gene: hadhb has been classified as Amber List (Moderate Evidence).
05 Nov 2024	Hereditary neuropathy or pain disorder v6.94	HADHB	Achchuthan Shanmugasundram Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015 to Mitochondrial trifunctional protein deficiency 2, OMIM: 620300
05 Nov 2024	Hereditary neuropathy or pain disorder v6.93	HADHB	Achchuthan Shanmugasundram Publications for gene: HADHB were set to
05 Nov 2024	Hereditary neuropathy or pain disorder v6.92	HADHB	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HADHB. Tag Q3_24_NHS_review tag was added to gene: HADHB.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.92	HADHB	Achchuthan Shanmugasundram reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 24664533, 28685493, 28649548, 35235001, 37388542; Phenotypes: Mitochondrial trifunctional protein deficiency 2, OMIM: 620300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Nov 2024	Hereditary neuropathy or pain disorder v6.92	FAM126A	Sarah Leigh Publications for gene: FAM126A were set to 16951682
05 Nov 2024	Hereditary neuropathy or pain disorder v6.91	FAM126A	Sarah Leigh Phenotypes for gene: FAM126A were changed from Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532 to Leukodystrophy, hypomyelinating, 5, OMIM:610532; hypomyelinating leukodystrophy 5, MONDO:0012514
05 Nov 2024	Hereditary neuropathy or pain disorder v6.90	FAH	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: FAH. Tag Q3_24_NHS_review tag was added to gene: FAH.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.90	FAH	Sarah Leigh reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Nov 2024	Hereditary neuropathy or pain disorder v6.90	HADHA	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HADHA. Tag Q3_24_NHS_review tag was added to gene: HADHA.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.90	HADHA	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by by Alexander Rossor, mitochondrial trifunctional protein deficiency 1 (MIM #609015) includes peripheral neuropathy as one of the clinical manifestations. There are at least three unrelated cases reported with neuropathy in literature. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Alexander Rossor, mitochondrial trifunctional protein deficiency 1 (MIM #609015) includes peripheral neuropathy as one of the clinical manifestations. There are at least three unrelated cases reported with neuropathy in literature. Hence, this gene can be promoted to green rating in the next GMS update.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.90	FAH	Sarah Leigh Phenotypes for gene: FAH were changed from Tyrosinemia, type I, OMIM:276700 to Tyrosinemia, type I, OMIM:276700; tyrosinemia type I, MONDO:0010161
05 Nov 2024	Hereditary neuropathy or pain disorder v6.89	FAH	Sarah Leigh Phenotypes for gene: FAH were changed from Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP; Tyrosinemia, type I, 276700 to Tyrosinemia, type I, OMIM:276700
05 Nov 2024	Hereditary neuropathy or pain disorder v6.88	HADHA	Achchuthan Shanmugasundram Classified gene: HADHA as Amber List (moderate evidence)
05 Nov 2024	Hereditary neuropathy or pain disorder v6.88	HADHA	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by by Alexander Rossor, mitochondrial trifunctional protein deficiency 1 (MIM #609015) includes peripheral neuropathy as one of the clinical manifestations. There are at least three unrelated cases reported with neuropathy in literature. Hence, this gene can be promoted to green rating in the next GMS update.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.88	HADHA	Achchuthan Shanmugasundram Gene: hadha has been classified as Amber List (Moderate Evidence).
05 Nov 2024	Hereditary neuropathy or pain disorder v6.87	HADHA	Achchuthan Shanmugasundram Publications for gene: HADHA were set to
05 Nov 2024	Hereditary neuropathy or pain disorder v6.86	HADHA	Achchuthan Shanmugasundram Phenotypes for gene: HADHA were changed from Trifunctional protein deficiency, 609015 to Mitochondrial trifunctional protein deficiency 1, OMIM:609015
05 Nov 2024	Hereditary neuropathy or pain disorder v6.85	HADHA	Achchuthan Shanmugasundram reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23868323, 32897397; Phenotypes: Mitochondrial trifunctional protein deficiency 1, OMIM:609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Nov 2024	Hereditary neuropathy or pain disorder v6.85	FAH	Sarah Leigh Publications for gene: FAH were set to
05 Nov 2024	Hereditary neuropathy or pain disorder v6.84	SLC13A3	Achchuthan Shanmugasundram Phenotypes for gene: SLC13A3 were changed from acute neuropathy to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
05 Nov 2024	Hereditary neuropathy or pain disorder v6.83	SLC13A3	Achchuthan Shanmugasundram edited their review of gene: SLC13A3: Changed phenotypes to: Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
05 Nov 2024	Hereditary neuropathy or pain disorder v6.83	SLC13A3	Achchuthan Shanmugasundram Classified gene: SLC13A3 as Red List (low evidence)
05 Nov 2024	Hereditary neuropathy or pain disorder v6.83	SLC13A3	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, there is only case reported with neuropathy. Hence, this gene should be rated red with current evidence.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.83	SLC13A3	Achchuthan Shanmugasundram Gene: slc13a3 has been classified as Red List (Low Evidence).
05 Nov 2024	Hereditary neuropathy or pain disorder v6.82	SLC13A3	Achchuthan Shanmugasundram reviewed gene: SLC13A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Nov 2024	Hereditary neuropathy or pain disorder v6.82	ZFYVE26	Arina Puzriakova Phenotypes for gene: ZFYVE26 were changed from Hereditary Neuropathies; Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy; Spastic paraplegia 15, autosomal recessive, 270700 to Spastic paraplegia 15, autosomal recessive, OMIM:270700
05 Nov 2024	Hereditary neuropathy or pain disorder v6.81	ZFYVE26	Arina Puzriakova Publications for gene: ZFYVE26 were set to
05 Nov 2024	Hereditary neuropathy or pain disorder v6.80	ZFYVE26	Arina Puzriakova Classified gene: ZFYVE26 as Amber List (moderate evidence)
05 Nov 2024	Hereditary neuropathy or pain disorder v6.80	ZFYVE26	Arina Puzriakova Added comment: Comment on list classification: Peripheral neuropathy is a reported feature in at least 5 unrelated families with SPG15. The scope of this panel has now been expanded to complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
05 Nov 2024	Hereditary neuropathy or pain disorder v6.80	ZFYVE26	Arina Puzriakova Gene: zfyve26 has been classified as Amber List (Moderate Evidence).
05 Nov 2024	Hereditary neuropathy or pain disorder v6.79	ZFYVE26	Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: ZFYVE26. Tag Q3_24_NHS_review tag was added to gene: ZFYVE26.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.79	SAMD9L	Eleanor Williams Classified gene: SAMD9L as Amber List (moderate evidence)
04 Nov 2024	Hereditary neuropathy or pain disorder v6.79	SAMD9L	Eleanor Williams Added comment: Comment on list classification: Promoting to amber with a recommendation for green rating following GMS review.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.79	SAMD9L	Eleanor Williams Gene: samd9l has been classified as Amber List (Moderate Evidence).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.78	SAMD9L	Eleanor Williams Publications for gene: SAMD9L were set to ataxia; peripheral neuropathy; pancytopenia
04 Nov 2024	Hereditary neuropathy or pain disorder v6.77	SAMD9L	Eleanor Williams Phenotypes for gene: SAMD9L were changed from 32808377: 36553623 : 31053103: 27259050: 28202457 to Ataxia-pancytopenia syndrome, OMIM:159550; ataxia-pancytopenia syndrome, MONDO:0008038
04 Nov 2024	Hereditary neuropathy or pain disorder v6.76	SAMD9L	Eleanor Williams Mode of pathogenicity for gene: SAMD9L was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
04 Nov 2024	Hereditary neuropathy or pain disorder v6.75	SAMD9L	Eleanor Williams Tag missense tag was added to gene: SAMD9L. Tag mosaicism tag was added to gene: SAMD9L. Tag Q3_24_promote_green tag was added to gene: SAMD9L. Tag Q3_24_NHS_review tag was added to gene: SAMD9L.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.75	SAMD9L	Eleanor Williams edited their review of gene: SAMD9L: Changed rating: GREEN; 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; Changed publications to: 32808377, 36553623, 31053103, 27259050, 28202457; Changed phenotypes to: Ataxia-pancytopenia syndrome, OMIM:159550, ataxia-pancytopenia syndrome, MONDO:0008038; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
04 Nov 2024	Hereditary neuropathy or pain disorder v6.75	SAMD9L	Eleanor Williams commented on gene: SAMD9L
04 Nov 2024	Hereditary neuropathy or pain disorder v6.75	ETFDH	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ETFDH. Tag Q3_24_NHS_review tag was added to gene: ETFDH.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.75	ETFDH	Sarah Leigh reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.75	ETFDH	Sarah Leigh Publications for gene: ETFDH were set to 32608139; 26821934; 0587156
04 Nov 2024	Hereditary neuropathy or pain disorder v6.74	ETFDH	Sarah Leigh Phenotypes for gene: ETFDH were changed from Glutaric acidemia IIC, 231680; Neonatal and late onset forms. hypoglycaemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occur. Riboflavin responsive to Glutaric acidemia IIC, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
04 Nov 2024	Hereditary neuropathy or pain disorder v6.73	ETFDH	Sarah Leigh Publications for gene: ETFDH were set to
04 Nov 2024	Hereditary neuropathy or pain disorder v6.72	ERCC8	Sarah Leigh Publications for gene: ERCC8 were set to 7664335; 9338586; 21108394; 14661080; 15744458; 25453614
04 Nov 2024	Hereditary neuropathy or pain disorder v6.71	ERCC8	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ERCC8. Tag Q3_24_NHS_review tag was added to gene: ERCC8.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.71	ERCC8	Sarah Leigh reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
04 Nov 2024	Hereditary neuropathy or pain disorder v6.71	ERCC8	Sarah Leigh Phenotypes for gene: ERCC8 were changed from Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type A, 216400 to Cockayne syndrome, type A, OMIM:216400; Cockayne syndrome type 1, MONDO:0019569
04 Nov 2024	Hereditary neuropathy or pain disorder v6.70	ERCC8	Sarah Leigh Publications for gene: ERCC8 were set to 25453614
04 Nov 2024	Hereditary neuropathy or pain disorder v6.69	ERCC8	Sarah Leigh Publications for gene: ERCC8 were set to
04 Nov 2024	Hereditary neuropathy or pain disorder v6.68	ERCC6	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ERCC6. Tag Q3_24_NHS_review tag was added to gene: ERCC6.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.68	ERCC6	Sarah Leigh reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.68	ERCC6	Sarah Leigh Publications for gene: ERCC6 were set to 25453614
04 Nov 2024	Hereditary neuropathy or pain disorder v6.67	ERCC6	Sarah Leigh Publications for gene: ERCC6 were set to
04 Nov 2024	Hereditary neuropathy or pain disorder v6.66	TBCE	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the association of this gene with neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.66	TBCE	Achchuthan Shanmugasundram changed review comment from: PMID:27666369 reported six individuals from four apparently unrelated families originating from the same geographical area in Italy near Naples with a similar infantile-onset neurodegenerative disorder. They were either identified with the same homozygous p.Ile155Asn variant (five patients from three families) or with a compound heterozygous variant involving the same variant with another variant (p.Leu360Ter) in one patient. There is also functional evidence available. This gene has been associated with relevant phenotypes in OMIM (MIM #617207) and Gene2Phenotype (with 'strong' rating on the DD panel). MIM #617207 records axonal peripheral neuropathy as one of the clinical manifestations.; to: PMID:27666369 reported six individuals from four apparently unrelated families originating from the same geographical area in Italy near Naples with a similar infantile-onset neurodegenerative disorder. They were either identified with the same homozygous p.Ile155Asn variant (five patients from three families) or with a compound heterozygous variant involving the same variant with another variant (p.Leu360Ter) in one patient. Electrophysiologic and electromyographic studies in all patients were consistent with a motor neuropathy. There is also functional evidence available. This gene has been associated with relevant phenotypes in OMIM (MIM #617207) and Gene2Phenotype (with 'strong' rating on the DD panel). MIM #617207 records axonal peripheral neuropathy as one of the clinical manifestations.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.66	ERCC6	Sarah Leigh Phenotypes for gene: ERCC6 were changed from Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type B, 133540 to Cockayne syndrome, type B, OMIM:133540; Cockayne syndrome type 2, MONDO:0019570
04 Nov 2024	Hereditary neuropathy or pain disorder v6.65	TBCE	Achchuthan Shanmugasundram Classified gene: TBCE as Amber List (moderate evidence)
04 Nov 2024	Hereditary neuropathy or pain disorder v6.65	TBCE	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.65	TBCE	Achchuthan Shanmugasundram Gene: tbce has been classified as Amber List (Moderate Evidence).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.64	TBCE	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TBCE. Tag Q3_24_NHS_review tag was added to gene: TBCE.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.64	TBCE	Achchuthan Shanmugasundram reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27666369; Phenotypes: Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM:617207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.64	PNPT1	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated cases reported with heterozygous PNPT1 variants and sensory neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are four unrelated cases reported with heterozygous PNPT1 variants and sensory neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.64	PNPT1	Achchuthan Shanmugasundram changed review comment from: PMID:14705117 reported a large family from Southeastern France with spinocerebellar ataxia with sensory involvement. Age at onset ranged from 17 months to 39 years, although most of those affected had onset in childhood. Cerebellar ataxia was always present and many patients had peripheral sensory neuropathy. PMID:35411967 reported the identification of heterozygous splice site variants in PNPT1 in the above reported family from Southeastern France and from a 3-generation Australian family with spinocerebellar ataxia and sensory neuropathy reported in this study. All patients from the Australian family for whom information was available had an axonal sensory neuropathy with diminished or absent limb reflexes and decreased sensation. A 40-year-old French patient was also reported with heterozygous frameshift PNPT1 variant, who had onset of deafness shortly after birth and onset of gait ataxia at 23 years of age. He also had sensory neuropathy. This gene has been associated with relevant phenotypes in OMIM (MIM #608703), which records sensory neuropathy/ axonal sensory neuropathy as clinical manifestations of the phenotype.; to: PMID:14705117 reported a large family from Southeastern France with spinocerebellar ataxia with sensory involvement. Age at onset ranged from 17 months to 39 years, although most of those affected had onset in childhood. Cerebellar ataxia was always present and many patients had peripheral sensory neuropathy. PMID:35411967 reported the identification of heterozygous splice site variants in PNPT1 in the above reported family from Southeastern France and from a 3-generation Australian family with spinocerebellar ataxia and sensory neuropathy reported in this study. All patients from the Australian family for whom information was available had an axonal sensory neuropathy with diminished or absent limb reflexes and decreased sensation. There was evidence of incomplete penetrance in the Australian family, as two carriers in this family had sensory neuropathy without ataxia or cerebellar atrophy in their thirties. A 40-year-old French patient was also reported with heterozygous frameshift PNPT1 variant, who had onset of deafness shortly after birth and onset of gait ataxia at 23 years of age. He also had sensory neuropathy. This patient inherited the variant from an asymptomatic 80+ years old father. PMID:37935417 reported the identification of a novel PNPT1 variant in a 3-year-old child with spinocerebellar ataxia. The child had cerebellar atrophy and psychomotor delay. At a follow up at 6 years of age, the symptoms had worsened and also presented with axonal sensory neuropathy. Monoallelic variants in this gene have been associated with relevant phenotype in OMIM (MIM #608703), which records sensory neuropathy/ axonal sensory neuropathy as clinical manifestations of the phenotype.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.64	DSTYK	Sarah Leigh Added comment: Comment on phenotypes: Monoallelic DSTYK variants are associated with Congenital anomalies of kidney and urinary tract 1 (OMIM:610805).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.64	DSTYK	Sarah Leigh Phenotypes for gene: DSTYK were changed from Spastic paraplegia 23, autosomal recessive, OMIM:270750; hereditary spastic paraplegia 23, MONDO:0010046 to Spastic paraplegia 23, autosomal recessive, OMIM:270750; hereditary spastic paraplegia 23, MONDO:0010046
04 Nov 2024	Hereditary neuropathy or pain disorder v6.63	DSTYK	Sarah Leigh Tag founder-effect tag was added to gene: DSTYK.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.63	PNPT1	Achchuthan Shanmugasundram edited their review of gene: PNPT1: Changed publications to: 14705117, 35411967, 37935417
04 Nov 2024	Hereditary neuropathy or pain disorder v6.63	DSTYK	Sarah Leigh Classified gene: DSTYK as Amber List (moderate evidence)
04 Nov 2024	Hereditary neuropathy or pain disorder v6.63	DSTYK	Sarah Leigh Gene: dstyk has been classified as Amber List (Moderate Evidence).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.62	DSTYK	Sarah Leigh edited their review of gene: DSTYK: Added comment: Two DSTYK variants (as compound heterozygotes) have been associated with Spastic paraplegia 23, autosomal recessive (OMIM:270750) in 3 unrelated families of Middle Eastern origin. This combination of variants in the reported families was revealed to be founder effect by haplotype analysis (PMID: 28157540).; Changed rating: AMBER; Changed publications to: 28157540; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.62	DSTYK	Sarah Leigh Added comment: Comment on phenotypes: Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.62	DSTYK	Sarah Leigh Phenotypes for gene: DSTYK were changed from Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).; Spastic paraplegia 23, 270750 to Spastic paraplegia 23, autosomal recessive, OMIM:270750; hereditary spastic paraplegia 23, MONDO:0010046
04 Nov 2024	Hereditary neuropathy or pain disorder v6.61	DMXL2	Sarah Leigh Added comment: Comment on phenotypes: Three brothers from a single family with Polyendocrine-polyneuropathy syndrome, OMIM:616113;polyendocrine-polyneuropathy syndrome MONDO:0014497, were homozygous for a DMXL2 variant (PMID: 25248098). Segregation between the variants and the condition was also reported in this study.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.61	DMXL2	Sarah Leigh Phenotypes for gene: DMXL2 were changed from ?Polyendocrine-polyneuropathy syndrome, OMIM:616113; polyendocrine-polyneuropathy syndrome MONDO:0014497; Developmental and epileptic encephalopathy 81, OMIM:618663; developmental and epileptic encephalopathy, 81, MONDO:0032858 to Developmental and epileptic encephalopathy 81, OMIM:618663; developmental and epileptic encephalopathy, 81, MONDO:0032858
04 Nov 2024	Hereditary neuropathy or pain disorder v6.60	DMXL2	Sarah Leigh reviewed gene: DMXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
04 Nov 2024	Hereditary neuropathy or pain disorder v6.60	PNPT1	Achchuthan Shanmugasundram Classified gene: PNPT1 as Amber List (moderate evidence)
04 Nov 2024	Hereditary neuropathy or pain disorder v6.60	PNPT1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported with heterozygous PNPT1 variants and sensory neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.60	PNPT1	Achchuthan Shanmugasundram Gene: pnpt1 has been classified as Amber List (Moderate Evidence).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.59	PNPT1	Achchuthan Shanmugasundram Phenotypes for gene: PNPT1 were changed from ataxia; peripheral neuropathy to Spinocerebellar ataxia 25, OMIM:608703
04 Nov 2024	Hereditary neuropathy or pain disorder v6.58	PNPT1	Achchuthan Shanmugasundram Publications for gene: PNPT1 were set to 35411967: 14705117
04 Nov 2024	Hereditary neuropathy or pain disorder v6.57	PNPT1	Achchuthan Shanmugasundram Mode of inheritance for gene: PNPT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Nov 2024	Hereditary neuropathy or pain disorder v6.56	PNPT1	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PNPT1. Tag Q3_24_NHS_review tag was added to gene: PNPT1.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.56	PNPT1	Achchuthan Shanmugasundram reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14705117, 35411967; Phenotypes: Spinocerebellar ataxia 25, OMIM:608703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Nov 2024	Hereditary neuropathy or pain disorder v6.56	DMXL2	Sarah Leigh Publications for gene: DMXL2 were set to 31688942
04 Nov 2024	Hereditary neuropathy or pain disorder v6.55	NFASC	Achchuthan Shanmugasundram Classified gene: NFASC as Amber List (moderate evidence)
04 Nov 2024	Hereditary neuropathy or pain disorder v6.55	NFASC	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least three unrelated cases with syndromic neuropathy. Hence, this gene can be recommended for promotion to green rating in the next GMS update.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.55	NFASC	Achchuthan Shanmugasundram Gene: nfasc has been classified as Amber List (Moderate Evidence).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.54	NFASC	Achchuthan Shanmugasundram Phenotypes for gene: NFASC were changed from Developmental delay; peripheral neuropathy to Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356
04 Nov 2024	Hereditary neuropathy or pain disorder v6.53	NFASC	Achchuthan Shanmugasundram Publications for gene: NFASC were set to 30850329: 30124836
04 Nov 2024	Hereditary neuropathy or pain disorder v6.52	NFASC	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NFASC. Tag Q3_24_NHS_review tag was added to gene: NFASC.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.52	NFASC	Achchuthan Shanmugasundram commented on gene: NFASC: PMID:30850329 reported the identification of a homozygous NFASC variant (p.Val1122Glu) in two siblings from an Italian family. The patients presented with early-onset cerebellar ataxia and demyelinating neuropathy. PMID:31501903 reported the identification of one frameshift and four different homozygous non-synonymous variants in NFASC gene in ten individuals from six unrelated families. They presented with a neurodevelopmental disorder characterised with a spectrum of central (intellectual disability, developmental delay, motor impairment, speech difficulties) and peripheral (early onset demyelinating neuropathy) neurological involvement. Neuropathy was reported in at least three patients from two different families. This gene has been associated with relevant phenotype in OMIM (MIM #618356), which lists demyelinating sensorimotor polyneuropathy as one of the clinical manifestations observed in some of the patients.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.52	DMXL2	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DMXL2. Tag Q3_24_NHS_review tag was added to gene: DMXL2.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.52	DMXL2	Sarah Leigh Phenotypes for gene: DMXL2 were changed from developmental encephalopathy; deafness; mild peripheral polyneuropathy; dysmorphic features to ?Polyendocrine-polyneuropathy syndrome, OMIM:616113; polyendocrine-polyneuropathy syndrome MONDO:0014497; Developmental and epileptic encephalopathy 81, OMIM:618663; developmental and epileptic encephalopathy, 81, MONDO:0032858
04 Nov 2024	Hereditary neuropathy or pain disorder v6.51	AP1S1	Arina Puzriakova Classified gene: AP1S1 as Amber List (moderate evidence)
04 Nov 2024	Hereditary neuropathy or pain disorder v6.51	AP1S1	Arina Puzriakova Added comment: Comment on list classification: Neuropathy in adulthood is a feature of MEDNIK syndrome. >3 unrelated cases have been reported. The scope of this panel has now been expanded to complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.51	AP1S1	Arina Puzriakova Gene: ap1s1 has been classified as Amber List (Moderate Evidence).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.50	DMXL2	Sarah Leigh Classified gene: DMXL2 as Amber List (moderate evidence)
04 Nov 2024	Hereditary neuropathy or pain disorder v6.50	DMXL2	Sarah Leigh Gene: dmxl2 has been classified as Amber List (Moderate Evidence).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.49	DHH	Sarah Leigh Classified gene: DHH as Amber List (moderate evidence)
04 Nov 2024	Hereditary neuropathy or pain disorder v6.49	DHH	Sarah Leigh Gene: dhh has been classified as Amber List (Moderate Evidence).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.48	DHH	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DHH. Tag Q3_24_NHS_review tag was added to gene: DHH.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.48	DHH	Sarah Leigh edited their review of gene: DHH: Added comment: DHH variants have been associated with 46XY gonadal dysgenesis with minifascicular neuropathy (OMIM:607080). At least five DHH variants have been associated with in five unrelated cases of OMIM:607080.; Changed rating: GREEN
04 Nov 2024	Hereditary neuropathy or pain disorder v6.48	DHH	Sarah Leigh Added comment: Comment on phenotypes: DHH variants are also associated with 46XY sex reversal 7 (OMIM:233420). Neuropathy does not appear to be associated with this condition.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.48	DHH	Sarah Leigh Phenotypes for gene: DHH were changed from to 46XY gonadal dysgenesis with minifascicular neuropathy, OMIM:607080; 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766
04 Nov 2024	Hereditary neuropathy or pain disorder v6.47	AP1S1	Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: AP1S1.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.47	AP1S1	Arina Puzriakova Phenotypes for gene: AP1S1 were changed from MEDNIK syndrome, 609313; Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma to MEDNIK syndrome, OMIM:609313; Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
04 Nov 2024	Hereditary neuropathy or pain disorder v6.46	DHH	Sarah Leigh Publications for gene: DHH were set to
04 Nov 2024	Hereditary neuropathy or pain disorder v6.45	DHH	Sarah Leigh Mode of inheritance for gene: DHH was changed from to BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.44	DARS2	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DARS2. Tag Q3_24_NHS_review tag was added to gene: DARS2.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.44	DARS2	Sarah Leigh edited their review of gene: DARS2: Added comment: DARS2 variants have been associated with Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 and as strong G2P gene for the same condition. At numerous DARS2 variants have been reported in cases of OMIM:611105 (PMID: 28334938;38790244;22677571;38549004).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.44	DARS2	Sarah Leigh Publications for gene: DARS2 were set to 28334938
04 Nov 2024	Hereditary neuropathy or pain disorder v6.43	DARS2	Sarah Leigh Added comment: Comment on phenotypes: Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
04 Nov 2024	Hereditary neuropathy or pain disorder v6.43	DARS2	Sarah Leigh Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105; leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MONDO:0012622
04 Nov 2024	Hereditary neuropathy or pain disorder v6.42	CYP2U1	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CYP2U1. Tag Q3_24_NHS_review tag was added to gene: CYP2U1.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.42	CYP2U1	Sarah Leigh reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.42	CYP2U1	Sarah Leigh Publications for gene: CYP2U1 were set to 23176821; 33107650
04 Nov 2024	Hereditary neuropathy or pain disorder v6.41	CYP2U1	Sarah Leigh Phenotypes for gene: CYP2U1 were changed from spastic paraplegia; cognitive impairment; subvlincial peripheral neuropathy to Spastic paraplegia 56, autosomal recessive, OMIM:615030; hereditary spastic paraplegia 56, MONDO:0014015
04 Nov 2024	Hereditary neuropathy or pain disorder v6.40	CYP2U1	Sarah Leigh Publications for gene: CYP2U1 were set to 23176821
04 Nov 2024	Hereditary neuropathy or pain disorder v6.39	CYP2U1	Sarah Leigh Classified gene: CYP2U1 as Amber List (moderate evidence)
04 Nov 2024	Hereditary neuropathy or pain disorder v6.39	CYP2U1	Sarah Leigh Gene: cyp2u1 has been classified as Amber List (Moderate Evidence).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.38	CTDP1	Sarah Leigh Phenotypes for gene: CTDP1 were changed from Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) to Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168; congenital cataracts-facial dysmorphism-neuropathy syndrome, MONDO:0011402
04 Nov 2024	Hereditary neuropathy or pain disorder v6.37	NFASC	Achchuthan Shanmugasundram reviewed gene: NFASC: Rating: GREEN; Mode of pathogenicity: None; Publications: 30850329, 31501903; Phenotypes: Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.37	COA7	Sarah Leigh Phenotypes for gene: COA7 were changed from Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
04 Nov 2024	Hereditary neuropathy or pain disorder v6.36	CNTNAP1	Sarah Leigh Phenotypes for gene: CNTNAP1 were changed from Hypomyelinating neuropathy, congenital, 3, 618186 to neuropathy, congenital hypomyelinating, 3, MONDO:0020766; Hypomyelinating neuropathy, congenital, 3, OMIM:618186
04 Nov 2024	Hereditary neuropathy or pain disorder v6.35	CLP1	Sarah Leigh Phenotypes for gene: CLP1 were changed from pontocerbeelar hypoplasia, peripheral neuropathy to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
04 Nov 2024	Hereditary neuropathy or pain disorder v6.34	CD59	Sarah Leigh Phenotypes for gene: CD59 were changed from Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy; Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 to Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, OMIM:612300; primary CD59 deficiency, MONDO:0012858
04 Nov 2024	Hereditary neuropathy or pain disorder v6.33	CAPN1	Sarah Leigh Phenotypes for gene: CAPN1 were changed from spasticity; pes cavus; peripheral neuropathy to autosomal recessive spastic paraplegia type 76, MONDO:0014827; Spastic paraplegia 76, autosomal recessive, OMIM:616907
04 Nov 2024	Hereditary neuropathy or pain disorder v6.32	ATP13A2	Sarah Leigh Phenotypes for gene: ATP13A2 were changed from spastic paraplegia; cognitive impairment; peripheral neuropathy to Spastic paraplegia 78, autosomal recessive, OMIM:617225; Kufor-Rakeb syndrome, OMIM:606693; Kufor-Rakeb syndrome, MONDO:0011706; autosomal recessive spastic paraplegia type 78, MONDO:0014975
04 Nov 2024	Hereditary neuropathy or pain disorder v6.31	ATM	Sarah Leigh Phenotypes for gene: ATM were changed from Ataxia-telangiectasia, OMIM:208900; Hereditary Neuropathies to Ataxia-telangiectasia, OMIM:208900
04 Nov 2024	Hereditary neuropathy or pain disorder v6.30	ATL3	Sarah Leigh Phenotypes for gene: ATL3 were changed from to Neuropathy, hereditary sensory, type IF, OMIM:615632; neuropathy, hereditary sensory, type 1F, MONDO:0014286
04 Nov 2024	Hereditary neuropathy or pain disorder v6.29	ATAD3A	Sarah Leigh Phenotypes for gene: ATAD3A were changed from global developmental delay; hypotonia; optic atrophy; axonal neuropathy; hypertrophic cardiomyopathy to Harel-Yoon syndrome, OMIM:617183; Harel-Yoon syndrome, MONDO:0014958
04 Nov 2024	Hereditary neuropathy or pain disorder v6.28	ASAH1	Sarah Leigh Phenotypes for gene: ASAH1 were changed from Progressive myoclonic epilepsy; motor neuropathy to spinal muscular atrophy-progressive myoclonic epilepsy syndrome, MONDO:0008045; Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950
04 Nov 2024	Hereditary neuropathy or pain disorder v6.27	ABCD1	Sarah Leigh Phenotypes for gene: ABCD1 were changed from adreno leukodystrophy; adrenomyeloneuropathy to Adrenoleukodystrophy, OMIM:300100; Adrenomyeloneuropathy, adult, OMIM:300100; adrenoleukodystrophy, MONDO:0018544
04 Nov 2024	Hereditary neuropathy or pain disorder v6.26	AP5Z1	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: AP5Z1. Tag Q3_24_NHS_review tag was added to gene: AP5Z1.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.26	ARL6IP1	Sarah Leigh Classified gene: ARL6IP1 as Amber List (moderate evidence)
04 Nov 2024	Hereditary neuropathy or pain disorder v6.26	ARL6IP1	Sarah Leigh Gene: arl6ip1 has been classified as Amber List (Moderate Evidence).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.25	ARL6IP1	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ARL6IP1. Tag Q3_24_NHS_review tag was added to gene: ARL6IP1.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.25	ASAH1	Sarah Leigh Classified gene: ASAH1 as Amber List (moderate evidence)
04 Nov 2024	Hereditary neuropathy or pain disorder v6.25	ASAH1	Sarah Leigh Gene: asah1 has been classified as Amber List (Moderate Evidence).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.24	ASAH1	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ASAH1. Tag Q3_24_NHS_review tag was added to gene: ASAH1.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.24	ATAD3A	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ATAD3A. Tag Q3_24_NHS_review tag was added to gene: ATAD3A.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.24	ATAD3A	Sarah Leigh Classified gene: ATAD3A as Amber List (moderate evidence)
04 Nov 2024	Hereditary neuropathy or pain disorder v6.24	ATAD3A	Sarah Leigh Gene: atad3a has been classified as Amber List (Moderate Evidence).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.23	ATM	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ATM. Tag Q3_24_NHS_review tag was added to gene: ATM.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.23	ATL3	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ATL3. Tag Q3_24_NHS_review tag was added to gene: ATL3.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.23	ATP13A2	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ATP13A2. Tag Q3_24_NHS_review tag was added to gene: ATP13A2.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.23	ATP13A2	Sarah Leigh Classified gene: ATP13A2 as Amber List (moderate evidence)
04 Nov 2024	Hereditary neuropathy or pain disorder v6.23	ATP13A2	Sarah Leigh Gene: atp13a2 has been classified as Amber List (Moderate Evidence).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.22	BAG3	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: BAG3. Tag Q3_24_NHS_review tag was added to gene: BAG3.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.22	C12orf65	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: C12orf65. Tag Q3_24_NHS_review tag was added to gene: C12orf65.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.22	CAPN1	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CAPN1. Tag Q3_24_NHS_review tag was added to gene: CAPN1.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.22	CAPN1	Sarah Leigh Classified gene: CAPN1 as Amber List (moderate evidence)
04 Nov 2024	Hereditary neuropathy or pain disorder v6.22	CAPN1	Sarah Leigh Gene: capn1 has been classified as Amber List (Moderate Evidence).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.21	CLP1	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CLP1. Tag Q3_24_NHS_review tag was added to gene: CLP1.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.21	CLP1	Sarah Leigh Classified gene: CLP1 as Amber List (moderate evidence)
04 Nov 2024	Hereditary neuropathy or pain disorder v6.21	CLP1	Sarah Leigh Gene: clp1 has been classified as Amber List (Moderate Evidence).
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	CD59	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CD59. Tag Q3_24_NHS_review tag was added to gene: CD59.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	CNTNAP1	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CNTNAP1. Tag Q3_24_NHS_review tag was added to gene: CNTNAP1.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	COA7	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: COA7. Tag Q3_24_NHS_review tag was added to gene: COA7.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	CTDP1	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CTDP1. Tag Q3_24_NHS_review tag was added to gene: CTDP1.
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	CTDP1	Sarah Leigh reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15322984, 20301787, 10439962, 29174527, 14517542, 16194727, 24690360, 21824574, 23408394; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168, congenital cataracts-facial dysmorphism-neuropathy syndrome, MONDO:0011402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	COA7	Sarah Leigh reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29718187, 27683825; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	CNTNAP1	Sarah Leigh reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27668699, 28374019, 27818385, 27782105, 29511323; Phenotypes: neuropathy, congenital hypomyelinating, 3, MONDO:0020766, Hypomyelinating neuropathy, congenital, 3, OMIM:618186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	CD59	Sarah Leigh reviewed gene: CD59: Rating: GREEN; Mode of pathogenicity: ; Publications: 23149847, 1382994, 24382084; Phenotypes: Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, OMIM:612300, primary CD59 deficiency, MONDO:0012858; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	CLP1	Sarah Leigh reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24766810, 23474986, 24766809, 29307788; Phenotypes: Pontocerebellar hypoplasia 10 OMIM:615803, Pontocerebellar hypoplasia type 10 MONDO:0014349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	CAPN1	Sarah Leigh reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23741357, 27153400; Phenotypes: autosomal recessive spastic paraplegia type 76, MONDO:0014827, Spastic paraplegia 76, autosomal recessive, OMIM:616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	C12orf65	Sarah Leigh reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: 24198383, 23188110, 24424123, 24080142; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	BAG3	Sarah Leigh reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: 37989284, 30145633, 37907725, 25208129; Phenotypes: Myopathy, myofibrillar, 6, OMIM:612954, myofibrillar myopathy 6, MONDO:0013061, dilated cardiomyopathy 1HH, MONDO:0013479, Cardiomyopathy, dilated, 1HH, OMIM:613881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	ATP13A2	Sarah Leigh reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28137957, 27217339, 22296644; Phenotypes: Spastic paraplegia 78, autosomal recessive, OMIM:617225, Kufor-Rakeb syndrome, OMIM:606693, Kufor-Rakeb syndrome, MONDO:0011706, autosomal recessive spastic paraplegia type 78, MONDO:0014975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	ATL3	Sarah Leigh reviewed gene: ATL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24736309, 24459106, 30680846; Phenotypes: Neuropathy, hereditary sensory, type IF, OMIM:615632, neuropathy, hereditary sensory, type 1F, MONDO:0014286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	ATM	Sarah Leigh reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: 37540892; Phenotypes: Ataxia-telangiectasia, OMIM:208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	ATAD3A	Sarah Leigh reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27640307; Phenotypes: Harel-Yoon syndrome, OMIM:617183, Harel-Yoon syndrome, MONDO:0014958; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	ASAH1	Sarah Leigh reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 534421, 22703880; Phenotypes: spinal muscular atrophy-progressive myoclonic epilepsy syndrome, MONDO:0008045, Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	ARL6IP1	Sarah Leigh reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28471035, 31272422, 33188530, 30237576, 24482476, 30980493; Phenotypes: Spastic paraplegia 61, autosomal recessive, OMIM:615685, hereditary spastic paraplegia 61, MONDO:0014304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Nov 2024	Hereditary neuropathy or pain disorder v6.20	AP5Z1	Sarah Leigh reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20613862: 24833714; Phenotypes: Spastic paraplegia 48, autosomal recessive, OMIM:613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Nov 2024	Hereditary neuropathy or pain disorder v6.19	PLA2G16	Eleanor Williams changed review comment from: Associated with Lipodystrophy, familial partial, type 9 620683 (AR) in OMIM where Demyelinating sensorimotor neuropathy is listed as a clinical feature. PMID: 37919452 - Schuermans et al 2023 - 7 patients from 4 unrelated families with 3 different homozygous variants (c.16-4823_118+167del p.(Pro6ValfsTer15), c.286dupG p.(Ala96GlyfsTer16) and c.339C>A p.(Cys113Ter). All patients had generalized or partial Lipoatrophy, insulin resistance and Liver steatosis, and 6/7 showed Dyslipidemia/hypertriglyceridemia. Demyelinating peripheral neuropathy was seen in 5/7 patients from all 4 families. Function studies with PLAAT3 inactivation in human adipose stem cells provides evidence for PLAAT3 in PPARγ-mediated adipogenesis.; to: Associated with Lipodystrophy, familial partial, type 9 620683 (AR) in OMIM where Demyelinating sensorimotor neuropathy is listed as a clinical feature. PMID: 37919452 - Schuermans et al 2023 - 7 patients from 4 unrelated families with 3 different homozygous variants (c.16-4823_118+167del p.(Pro6ValfsTer15), c.286dupG p.(Ala96GlyfsTer16) and c.339C>A p.(Cys113Ter). All patients had generalized or partial lipoatrophy, insulin resistance and Liver steatosis, and 6/7 showed Dyslipidemia/hypertriglyceridemia. Demyelinating peripheral neuropathy was seen in 5/7 patients from all 4 families. Psychomotor retardation/intellectual disability was observed in 3/7 patients but the severity is not recorded. Age of onset of symptoms was 19 years, 8 years, 9 months, 4 years, 4 years (not available for 2 patients). Function studies with PLAAT3 inactivation in human adipose stem cells provides evidence for PLAAT3 in PPARγ-mediated adipogenesis.
01 Nov 2024	Hereditary neuropathy or pain disorder v6.19	PLA2G16	Eleanor Williams Classified gene: PLA2G16 as Amber List (moderate evidence)
01 Nov 2024	Hereditary neuropathy or pain disorder v6.19	PLA2G16	Eleanor Williams Added comment: Comment on list classification: Promoting to amber with recommendation for green rating following GMS review. 4 cases with 3 different variants in PLAAT3 and a consistent phenotype that includes peripheral neuropathy.
01 Nov 2024	Hereditary neuropathy or pain disorder v6.19	PLA2G16	Eleanor Williams Gene: pla2g16 has been classified as Amber List (Moderate Evidence).
01 Nov 2024	Hereditary neuropathy or pain disorder v6.18	PLA2G16	Eleanor Williams Phenotypes for gene: PLA2G16 were changed from to Associated with Lipodystrophy, familial partial, type 9, OMIM:620683; lipodystrophy, familial partial, type 9, MONDO:0958034
01 Nov 2024	Hereditary neuropathy or pain disorder v6.17	PLA2G16	Eleanor Williams Tag new-gene-name tag was added to gene: PLA2G16. Tag Q3_24_promote_green tag was added to gene: PLA2G16. Tag Q3_24_NHS_review tag was added to gene: PLA2G16.
01 Nov 2024	Hereditary neuropathy or pain disorder v6.17	PLA2G16	Eleanor Williams commented on gene: PLA2G16: The new gene name for PLA2G16 is PLAAT3.
01 Nov 2024	Hereditary neuropathy or pain disorder v6.17	PLA2G16	Eleanor Williams edited their review of gene: PLA2G16: Added comment: Associated with Lipodystrophy, familial partial, type 9 620683 (AR) in OMIM where Demyelinating sensorimotor neuropathy is listed as a clinical feature. PMID: 37919452 - Schuermans et al 2023 - 7 patients from 4 unrelated families with 3 different homozygous variants (c.16-4823_118+167del p.(Pro6ValfsTer15), c.286dupG p.(Ala96GlyfsTer16) and c.339C>A p.(Cys113Ter). All patients had generalized or partial Lipoatrophy, insulin resistance and Liver steatosis, and 6/7 showed Dyslipidemia/hypertriglyceridemia. Demyelinating peripheral neuropathy was seen in 5/7 patients from all 4 families. Function studies with PLAAT3 inactivation in human adipose stem cells provides evidence for PLAAT3 in PPARγ-mediated adipogenesis.; Changed phenotypes to: Associated with Lipodystrophy, familial partial, type 9, OMIM:620683, lipodystrophy, familial partial, type 9, MONDO:0958034
31 Oct 2024	Hereditary neuropathy or pain disorder v6.17	PLA2G16	Eleanor Williams gene: PLA2G16 was added gene: PLA2G16 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: PLA2G16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G16 were set to 37919452 Added comment: Added as green by Alexander Rossor (UCL Institute of Neurology) - see https://panelapp.genomicsengland.co.uk/panels/846/gene/PLAA/ Sources: Expert list
31 Oct 2024	Hereditary neuropathy or pain disorder v6.16	PLAA	Eleanor Williams changed review comment from: The paper PMID:37919452 refers to gene PLAAT3, PLA2G16 and mentions transcript NM_001128203. This corresponds to the gene PLA2G16 with Ensembl ID ENSG00000176485 in the current PanelApp database and not PLAA ENSG00000137055. Therefore this review will be copied to PLA2G16 and PLAA will have the tag 'curated_removed' added.; to: The paper PMID:37919452 refers to gene PLAAT3 previously known as PLA2G16 and mentions transcript NM_001128203. This corresponds to the gene PLA2G16 with Ensembl ID ENSG00000176485 in the current PanelApp database and not PLAA ENSG00000137055. Therefore this review will be copied to PLA2G16 and PLAA will have the tag 'curated_removed' added.
31 Oct 2024	Hereditary neuropathy or pain disorder v6.16	PLAA	Eleanor Williams changed review comment from: The paper PMID:37919452 refers to gene PLAAT3, PLA2G16 and mentions transcript NM_001128203. This corresponds to the gene PLA2G16 with Ensembl ID ENSG00000176485 in the current PanelApp database and not PLAA ENSG00000137055. Therefore this review will be copied to PLA2G16 and PLAA will have the tag 'curator_removed' added.; to: The paper PMID:37919452 refers to gene PLAAT3, PLA2G16 and mentions transcript NM_001128203. This corresponds to the gene PLA2G16 with Ensembl ID ENSG00000176485 in the current PanelApp database and not PLAA ENSG00000137055. Therefore this review will be copied to PLA2G16 and PLAA will have the tag 'curated_removed' added.
31 Oct 2024	Hereditary neuropathy or pain disorder v6.16	PLAA	Eleanor Williams Tag curated_removed tag was added to gene: PLAA.
31 Oct 2024	Hereditary neuropathy or pain disorder v6.16	PLAA	Eleanor Williams commented on gene: PLAA
31 Oct 2024	Hereditary neuropathy or pain disorder v6.16	NDUFS6	Eleanor Williams Publications for gene: NDUFS6 were set to 38459834; 38549004
31 Oct 2024	Hereditary neuropathy or pain disorder v6.15	NDUFS6	Eleanor Williams Tag Q3_24_promote_green tag was added to gene: NDUFS6. Tag Q3_24_NHS_review tag was added to gene: NDUFS6.
31 Oct 2024	Hereditary neuropathy or pain disorder v6.15	NDUFS6	Eleanor Williams Classified gene: NDUFS6 as Amber List (moderate evidence)
31 Oct 2024	Hereditary neuropathy or pain disorder v6.15	NDUFS6	Eleanor Williams Added comment: Comment on list classification: Promoting to amber with a recommendation for green rating following GMS review. 3 separate publications report variants in this gene in patients with peripheral neuropathies. 2 different variants are reported.
31 Oct 2024	Hereditary neuropathy or pain disorder v6.15	NDUFS6	Eleanor Williams Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
31 Oct 2024	Hereditary neuropathy or pain disorder v6.14	NDUFS6	Eleanor Williams changed review comment from: Associated with Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232 (AR) Biallelic loss of function variants are associated with severe CI deficiency and Leigh syndrome in previous reports (PubMed: 19259137 and PubMed: 15372108). There is now phenotypic expansion with 4 families reported with a less severe phenotype. 3 families share a common variant. PMID: 38459834 - Camila Armirola-Ricaurte et al 2024. Describe 5 patients from 3 unrelated families from Spain, Turkey and Greece. They share a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant found be exome sequencing and an axonal Charcot-Marie-Tooth (CMT) neuropathy. Age of onset ranged from 1 to 10 years. In all cases the unaffected parents were heterozygous for the variant. The variant is predicted to affect splicing and in family 1 was shown to cause the expression of aberrantly spliced transcripts and negligible levels of the canonical transcript. Haplotype analysis showed that the variant lies on a shared haplotype of 0.74MB on chromosome 5 and estimate the most recent common ancestor with the haplotype would have lived 740 years ago PMID: 38549004 – Ferreira et al 2024 – screened nearly 11,000 patients with peripheral neuropathy for variants in known mitochondrial disease genes. 1 male was found with a homozygous variant c.320_323delCAAA, p.Thr107LysfsTer40 in NDUFS6.; to: Associated with Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232 (AR) Biallelic loss of function variants are associated with severe CI deficiency and Leigh syndrome in previous reports (PubMed: 19259137 Spiegal et al 2009 and PubMed: 15372108 Kirby et al 2004, PMID: 30948790 - Rouzier et al 2019, PMID: 22474353 Ke et al 2012). There is now phenotypic expansion with 5 families reported with a less severe phenotype. 4 families share a common variant. PMID: 38459834 - Armirola-Ricaurte et al 2024. Describe 5 patients from 3 unrelated families from Spain, Turkey and Greece. They share a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant found be exome sequencing and an axonal Charcot-Marie-Tooth (CMT) neuropathy. Age of onset ranged from 1 to 10 years. In all cases the unaffected parents were heterozygous for the variant. The variant is predicted to affect splicing and in family 1 was shown to cause the expression of aberrantly spliced transcripts and negligible levels of the canonical transcript. Haplotype analysis showed that the variant lies on a shared haplotype of 0.74MB on chromosome 5 and estimate the most recent common ancestor with the haplotype would have lived 740 years ago PMID: 38549004 – Ferreira et al 2024 – screened nearly 11,000 patients with peripheral neuropathy for variants in known mitochondrial disease genes. 1 male was found with a homozygous variant c.320_323delCAAA, p.Thr107LysfsTer40 in NDUFS6. PMID: 38217609 - Gangfuß et al 2024 - identified a homozygous variant (c.309 + 5 G > A) in NDUFS6 in one male patient aged 10 with axonal neuropathy accompanied by loss of small fibers in skin biopsy. The patient also showed optic atrophy and borderline intellectual disability.
31 Oct 2024	Hereditary neuropathy or pain disorder v6.14	NDUFS6	Eleanor Williams changed review comment from: Associated with Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232 (AR) Biallelic loss of function variants are associated with severe CI deficiency and Leigh syndrome. 4 families reported although 3 share a common variant. PMID: 38459834 - Camila Armirola-Ricaurte et al 2024. Describe 5 patients from 3 unrelated families from Spain, Turkey and Greece. They share a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant found be exome sequencing and an axonal Charcot-Marie-Tooth (CMT) neuropathy. Age of onset ranged from 1 to 10 years. In all cases the unaffected parents were heterozygous for the variant. The variant is predicted to affect splicing and in family 1 was shown to cause the expression of aberrantly spliced transcripts and negligible levels of the canonical transcript. Haplotype analysis showed that the variant lies on a shared haplotype of 0.74MB on chromosome 5 and estimate the most recent common ancestor with the haplotype would have lived 740 years ago PMID: 38549004 – Ferreira et al 2024 – screened nearly 11,000 patients with peripheral neuropathy for variants in known mitochondrial disease genes. 1 male was found with a homozygous variant c.320_323delCAAA, p.Thr107LysfsTer40 in NDUFS6.; to: Associated with Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232 (AR) Biallelic loss of function variants are associated with severe CI deficiency and Leigh syndrome in previous reports (PubMed: 19259137 and PubMed: 15372108). There is now phenotypic expansion with 4 families reported with a less severe phenotype. 3 families share a common variant. PMID: 38459834 - Camila Armirola-Ricaurte et al 2024. Describe 5 patients from 3 unrelated families from Spain, Turkey and Greece. They share a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant found be exome sequencing and an axonal Charcot-Marie-Tooth (CMT) neuropathy. Age of onset ranged from 1 to 10 years. In all cases the unaffected parents were heterozygous for the variant. The variant is predicted to affect splicing and in family 1 was shown to cause the expression of aberrantly spliced transcripts and negligible levels of the canonical transcript. Haplotype analysis showed that the variant lies on a shared haplotype of 0.74MB on chromosome 5 and estimate the most recent common ancestor with the haplotype would have lived 740 years ago PMID: 38549004 – Ferreira et al 2024 – screened nearly 11,000 patients with peripheral neuropathy for variants in known mitochondrial disease genes. 1 male was found with a homozygous variant c.320_323delCAAA, p.Thr107LysfsTer40 in NDUFS6.
31 Oct 2024	Hereditary neuropathy or pain disorder v6.14	NDUFS6	Eleanor Williams Phenotypes for gene: NDUFS6 were changed from Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232; mitochondrial complex 1 deficiency, nuclear type 9, MONDO:0032615 to Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232; mitochondrial complex 1 deficiency, nuclear type 9, MONDO:0032615
31 Oct 2024	Hereditary neuropathy or pain disorder v6.13	NDUFS6	Eleanor Williams Phenotypes for gene: NDUFS6 were changed from peripheral neuropathy; nystagmus to Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232; mitochondrial complex 1 deficiency, nuclear type 9, MONDO:0032615
31 Oct 2024	Hereditary neuropathy or pain disorder v6.12	NDUFS6	Eleanor Williams Publications for gene: NDUFS6 were set to 38459834 : 38549004
31 Oct 2024	Hereditary neuropathy or pain disorder v6.11	NDUFS6	Eleanor Williams edited their review of gene: NDUFS6: Changed publications to: 38459834, 38549004; Changed phenotypes to: Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232, mitochondrial complex 1 deficiency, nuclear type 9, MONDO:0032615; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
31 Oct 2024	Hereditary neuropathy or pain disorder v6.11	NDUFS6	Eleanor Williams commented on gene: NDUFS6
31 Oct 2024	Hereditary neuropathy or pain disorder v6.11	NOP56_GGCCTG	Arina Puzriakova Publications for STR: NOP56_GGCCTG were set to
31 Oct 2024	Hereditary neuropathy or pain disorder v6.10	NOP56_GGCCTG	Arina Puzriakova Tag Q3_24_promote_green tag was added to STR: NOP56_GGCCTG. Tag Q3_24_NHS_review tag was added to STR: NOP56_GGCCTG. Tag Q3_24_expert_review tag was added to STR: NOP56_GGCCTG.
31 Oct 2024	Hereditary neuropathy or pain disorder v6.10	NOP56_GGCCTG	Arina Puzriakova commented on STR: NOP56_GGCCTG: Gene entity was recently added by Alexander Rossor (UCL Institute of Neurology) indicating that NOP56 should be green on this panel (https://panelapp.genomicsengland.co.uk/panels/846/gene/NOP56/). Adding STR as mechanism of disease is repeat expansions (GGCCTG)n rather than SNVs. Heterozygous expansion of an intronic GGCCTG hexanucleotide repeat in the NOP56 gene causes spinocerebellar ataxia-36 (SCA36), an adult-onset slowly progressive neurodegenerative disorder. EMG in cases with skeletal muscle atrophy has shown neurogenic changes, indicating a lower motor neuropathy (PMID: 21683323). Flagging for additional GMS review to determine whether inclusion on this panel is beneficial. Currently this STR is only included as part of the R54 Hereditary ataxia with onset in adulthood GMS panel (v7.0).
31 Oct 2024	Hereditary neuropathy or pain disorder v6.10	NOP56_GGCCTG	Arina Puzriakova Entity copied from Hereditary neuropathy v1.489
31 Oct 2024	Hereditary neuropathy or pain disorder v6.10	NOP56_GGCCTG	Arina Puzriakova STR: NOP56_GGCCTG was added STR: NOP56_GGCCTG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS,Expert Review Amber,Expert Review STR tags were added to STR: NOP56_GGCCTG. Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: NOP56_GGCCTG were set to Spinocerebellar ataxia 36, OMIM:614153
31 Oct 2024	Hereditary neuropathy or pain disorder v6.9	NOP56	Arina Puzriakova Classified gene: NOP56 as Red List (low evidence)
31 Oct 2024	Hereditary neuropathy or pain disorder v6.9	NOP56	Arina Puzriakova Added comment: Comment on list classification: Added to this panel by Alexander Rossor (UCL Institute of Neurology). Good evidence but mechanism of disease is repeat expansions (GGCCTG)n rather than SNVs and so rating the gene entity as Red. Added STR entity instead.
31 Oct 2024	Hereditary neuropathy or pain disorder v6.9	NOP56	Arina Puzriakova Gene: nop56 has been classified as Red List (Low Evidence).
31 Oct 2024	Hereditary neuropathy or pain disorder v6.8	NOP56	Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: NOP56. Tag currently-ngs-unreportable tag was added to gene: NOP56.
31 Oct 2024	Hereditary neuropathy or pain disorder v6.8	NOP56	Arina Puzriakova Mode of inheritance for gene: NOP56 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
31 Oct 2024	Hereditary neuropathy or pain disorder v6.7	NOP56	Arina Puzriakova Phenotypes for gene: NOP56 were changed from ataxia; motor neuropathy to Spinocerebellar ataxia 36, OMIM:614153
31 Oct 2024	Hereditary neuropathy or pain disorder v6.6	PLA2G6	Arina Puzriakova Phenotypes for gene: PLA2G6 were changed from Neurodegeneration with brain iron accumulation; peripheral neuropathy to Neurodegeneration with brain iron accumulation 2B, OMIM:610217; Infantile neuroaxonal dystrophy 1, OMIM:256600
31 Oct 2024	Hereditary neuropathy or pain disorder v6.5	PLA2G6	Arina Puzriakova Publications for gene: PLA2G6 were set to 18443314: 16783378:
31 Oct 2024	Hereditary neuropathy or pain disorder v6.4	PLA2G6	Arina Puzriakova Classified gene: PLA2G6 as Amber List (moderate evidence)
31 Oct 2024	Hereditary neuropathy or pain disorder v6.4	PLA2G6	Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). Biallelic variant in PLA2G6 are associated with multiple neurodegenerative phenotypes with overlapping clinical and radiologic features including Infantile neuroaxonal dystrophy (MIM# 256600), Neurodegeneration with brain iron accumulation (MIM# 610217) and Parkinson disease (MIM# 612953). Although not universal, progressive motor axonal neuropathy has been reported as an early feature in multiple patients harbouring PLA2G6 variants (PMID: 18443314; 25164370; 27882168; 29859652; 30340910). Neuropathy can present earlier than other typical features such as iron accumulation in the brain and has represented the main diagnostic feature in some cases. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update.
31 Oct 2024	Hereditary neuropathy or pain disorder v6.4	PLA2G6	Arina Puzriakova Gene: pla2g6 has been classified as Amber List (Moderate Evidence).
31 Oct 2024	Hereditary neuropathy or pain disorder v6.3	PLA2G6	Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: PLA2G6. Tag Q3_24_NHS_review tag was added to gene: PLA2G6.
31 Oct 2024	Hereditary neuropathy or pain disorder v6.3	PIEZO2	Arina Puzriakova Publications for gene: PIEZO2 were set to 27653382
31 Oct 2024	Hereditary neuropathy or pain disorder v6.2	PIEZO2	Arina Puzriakova Classified gene: PIEZO2 as Amber List (moderate evidence)
31 Oct 2024	Hereditary neuropathy or pain disorder v6.2	PIEZO2	Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). Biallelic variants cause distal arthrogryposis with impaired proprioception and touch. Mild sensory axonal neuropathy has been reported in some individuals (PMID: 27653382; 27843126; 27974811). Sufficient unrelated cases to promote this gene to Green at the next GMS panel update. Neuropathy is not a feature of dominant phenotypes associated with PIEZO2.
31 Oct 2024	Hereditary neuropathy or pain disorder v6.2	PIEZO2	Arina Puzriakova Gene: piezo2 has been classified as Amber List (Moderate Evidence).
31 Oct 2024	Hereditary neuropathy or pain disorder v6.1	PIEZO2	Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: PIEZO2. Tag Q3_24_NHS_review tag was added to gene: PIEZO2.
30 Oct 2024	Hereditary neuropathy or pain disorder v6.1		Achchuthan Shanmugasundram Panel version 6.0 has been signed off on 2024-10-30
30 Oct 2024	Hereditary neuropathy or pain disorder v6.0		Achchuthan Shanmugasundram promoted panel to version 6.0
30 Oct 2024	Hereditary neuropathy or pain disorder v5.107	PIEZO2	Arina Puzriakova Phenotypes for gene: PIEZO2 were changed from arthrodryposis; sensory neuropathy to Arthrogryposis, distal, with impaired proprioception and touch, OMIM:617146
28 Oct 2024	Hereditary neuropathy or pain disorder v5.106	MFF	Achchuthan Shanmugasundram Classified gene: MFF as Amber List (moderate evidence)
28 Oct 2024	Hereditary neuropathy or pain disorder v5.106	MFF	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are only two patients reported with neuropathy so far. Hence, this gene should be rated amber with current evidence.
28 Oct 2024	Hereditary neuropathy or pain disorder v5.106	MFF	Achchuthan Shanmugasundram Gene: mff has been classified as Amber List (Moderate Evidence).
28 Oct 2024	Hereditary neuropathy or pain disorder v5.105	MFF	Achchuthan Shanmugasundram Phenotypes for gene: MFF were changed from encephalopathy; developmental delay; peripheral neuropathy in some to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, OMIM:617086
28 Oct 2024	Hereditary neuropathy or pain disorder v5.104	MFF	Achchuthan Shanmugasundram Deleted their comment
28 Oct 2024	Hereditary neuropathy or pain disorder v5.104	MFF	Achchuthan Shanmugasundram commented on gene: MFF: PMID:26783368 reported three patients from two unrelated families with EMPF2 and with biallelic MFF variants. Patient 1 (an Austrian boy) was identified with compound heterozygous variants (p.Leu62Profs13; p.Arg298Ter) and had mixed form of peripheral neuropathy shown on compound muscle action potential. Patient 3 (one of two Turkish siblings) had phenotype consistent with demyelinating peripheral neuropathy, which was absent in his brother. They had homozygous p.Glu153Alafs5 variants. Although EMPF2 was reported in other patients (PMIDs: 22499341; 32181496; 34750646), neuropathy was not reported in them.
28 Oct 2024	Hereditary neuropathy or pain disorder v5.104	MFF	Achchuthan Shanmugasundram reviewed gene: MFF: Rating: AMBER; Mode of pathogenicity: None; Publications: 26783368; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2, OMIM:617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Oct 2024	Hereditary neuropathy or pain disorder v5.104	MAPK8IP3	Eleanor Williams commented on gene: MAPK8IP3: Awaiting clinical feedback before deciding on rating.
27 Oct 2024	Hereditary neuropathy or pain disorder v5.104	MAPK8IP3	Eleanor Williams reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 37462082, 30945334, 30612693; Phenotypes: Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443, neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, MONDO:0032755; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
26 Oct 2024	Hereditary neuropathy or pain disorder v5.104	HPDL	Eleanor Williams Tag Q3_24_promote_green tag was added to gene: HPDL. Tag Q3_24_NHS_review tag was added to gene: HPDL.
26 Oct 2024	Hereditary neuropathy or pain disorder v5.104	HPDL	Eleanor Williams Phenotypes for gene: HPDL were changed from developmental delay; spastic paraplegia; peripheral neuropathy to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026; Spastic paraplegia 83, autosomal recessive, OMIM:619027; neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613; spastic paraplegia 83, autosomal recessive, MONDO:0033614
26 Oct 2024	Hereditary neuropathy or pain disorder v5.103	HPDL	Eleanor Williams Classified gene: HPDL as Amber List (moderate evidence)
26 Oct 2024	Hereditary neuropathy or pain disorder v5.103	HPDL	Eleanor Williams Added comment: Comment on list classification: On recommendation of clinical expert this gene has been promoted to amber and has been tagged for promotion to green subject to GMS review.
26 Oct 2024	Hereditary neuropathy or pain disorder v5.103	HPDL	Eleanor Williams Gene: hpdl has been classified as Amber List (Moderate Evidence).
26 Oct 2024	Hereditary neuropathy or pain disorder v5.102	HPDL	Eleanor Williams reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 32707086; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026, Spastic paraplegia 83, autosomal recessive, OMIM:619027, neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613, spastic paraplegia 83, autosomal recessive, MONDO:0033614; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Oct 2024	Hereditary neuropathy or pain disorder v5.102	EXOSC3	Eleanor Williams Phenotypes for gene: EXOSC3 were changed from pontocerebellar hypoplasia; motor neuropathy to Pontocerebellar hypoplasia, type 1B, OMIM:614678; pontocerebellar hypoplasia type 1B, MONDO:0013853
26 Oct 2024	Hereditary neuropathy or pain disorder v5.101	EXOSC3	Eleanor Williams Publications for gene: EXOSC3 were set to 23564332:24524299:25149867:12548734
26 Oct 2024	Hereditary neuropathy or pain disorder v5.100	FA2H	Eleanor Williams Phenotypes for gene: FA2H were changed from SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed; Spastic paraplegia 35, autosomal recessive, 612319 to Spastic paraplegia 35, autosomal recessive, OMIM:612319; hereditary spastic paraplegia 35, MONDO:0012866
26 Oct 2024	Hereditary neuropathy or pain disorder v5.99	FA2H	Eleanor Williams Publications for gene: FA2H were set to 22146942
26 Oct 2024	Hereditary neuropathy or pain disorder v5.98	FA2H	Eleanor Williams Tag Q3_24_promote_green tag was added to gene: FA2H. Tag Q3_24_NHS_review tag was added to gene: FA2H.
26 Oct 2024	Hereditary neuropathy or pain disorder v5.98	FA2H	Eleanor Williams Classified gene: FA2H as Amber List (moderate evidence)
26 Oct 2024	Hereditary neuropathy or pain disorder v5.98	FA2H	Eleanor Williams Added comment: Comment on list classification: Promoting with amber with a recommendation for green rating as there are now 4 cases with peripheral neuropathy and variants in this gene reported.
26 Oct 2024	Hereditary neuropathy or pain disorder v5.98	FA2H	Eleanor Williams Gene: fa2h has been classified as Amber List (Moderate Evidence).
26 Oct 2024	Hereditary neuropathy or pain disorder v5.97	FA2H	Eleanor Williams edited their review of gene: FA2H: Changed phenotypes to: Spastic paraplegia 35, autosomal recessive, OMIM:612319, hereditary spastic paraplegia 35, MONDO:0012866
26 Oct 2024	Hereditary neuropathy or pain disorder v5.97	FA2H	Eleanor Williams reviewed gene: FA2H: Rating: ; Mode of pathogenicity: None; Publications: 22146942, 31135052; Phenotypes: Spastic paraplegia 35, autosomal recessive, OMIM:612319; Mode of inheritance: None
26 Oct 2024	Hereditary neuropathy or pain disorder v5.97	EXOSC3	Eleanor Williams Classified gene: EXOSC3 as Amber List (moderate evidence)
26 Oct 2024	Hereditary neuropathy or pain disorder v5.97	EXOSC3	Eleanor Williams Added comment: Comment on list classification: Promoting this gene to amber with a proposal to promote to green following NHS GMS review. There are sufficient cases with a relevant phenotype and variants in this gene.
26 Oct 2024	Hereditary neuropathy or pain disorder v5.97	EXOSC3	Eleanor Williams Gene: exosc3 has been classified as Amber List (Moderate Evidence).
26 Oct 2024	Hereditary neuropathy or pain disorder v5.96	EXOSC3	Eleanor Williams Tag Q3_24_promote_green tag was added to gene: EXOSC3. Tag Q3_24_NHS_review tag was added to gene: EXOSC3.
26 Oct 2024	Hereditary neuropathy or pain disorder v5.96	EXOSC3	Eleanor Williams reviewed gene: EXOSC3: Rating: ; Mode of pathogenicity: None; Publications: 23564332, 24524299, 25149867, 12548734; Phenotypes: Pontocerebellar hypoplasia, type 1B, OMIM:614678, pontocerebellar hypoplasia type 1B, MONDO:0013853; Mode of inheritance: None
26 Oct 2024	Hereditary neuropathy or pain disorder v5.96	PTRH2	Achchuthan Shanmugasundram Classified gene: PTRH2 as Amber List (moderate evidence)
26 Oct 2024	Hereditary neuropathy or pain disorder v5.96	PTRH2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, there are multiple unrelated individuals presenting with peripheral neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.
26 Oct 2024	Hereditary neuropathy or pain disorder v5.96	PTRH2	Achchuthan Shanmugasundram Gene: ptrh2 has been classified as Amber List (Moderate Evidence).
26 Oct 2024	Hereditary neuropathy or pain disorder v5.95	PTRH2	Achchuthan Shanmugasundram Phenotypes for gene: PTRH2 were changed from Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263; Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263
26 Oct 2024	Hereditary neuropathy or pain disorder v5.94	PTRH2	Achchuthan Shanmugasundram Publications for gene: PTRH2 were set to 25572476; 25558065
26 Oct 2024	Hereditary neuropathy or pain disorder v5.93	PTRH2	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PTRH2. Tag Q3_24_NHS_review tag was added to gene: PTRH2.
26 Oct 2024	Hereditary neuropathy or pain disorder v5.93	PTRH2	Achchuthan Shanmugasundram reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39176129; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Oct 2024	Hereditary neuropathy or pain disorder v5.93	PDHA1	Achchuthan Shanmugasundram Classified gene: PDHA1 as Amber List (moderate evidence)
26 Oct 2024	Hereditary neuropathy or pain disorder v5.93	PDHA1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, there is sufficient evidence available for the association of this gene with syndromic neuropathy and hence this gene can be promoted to green rating in the next GMS update.
26 Oct 2024	Hereditary neuropathy or pain disorder v5.93	PDHA1	Achchuthan Shanmugasundram Gene: pdha1 has been classified as Amber List (Moderate Evidence).
26 Oct 2024	Hereditary neuropathy or pain disorder v5.92	PDHA1	Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: PDHA1.
26 Oct 2024	Hereditary neuropathy or pain disorder v5.92	PDHA1	Achchuthan Shanmugasundram Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency, OMIM:312170
26 Oct 2024	Hereditary neuropathy or pain disorder v5.91	PDHA1	Achchuthan Shanmugasundram Publications for gene: PDHA1 were set to
26 Oct 2024	Hereditary neuropathy or pain disorder v5.90	PDHA1	Achchuthan Shanmugasundram Mode of inheritance for gene: PDHA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
26 Oct 2024	Hereditary neuropathy or pain disorder v5.89	PDHA1	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PDHA1.
26 Oct 2024	Hereditary neuropathy or pain disorder v5.89	PDHA1	Achchuthan Shanmugasundram reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33661577, 36693417, 38497591; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency, OMIM:312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
25 Oct 2024	Hereditary neuropathy or pain disorder v5.89	TBCE	Arina Puzriakova Phenotypes for gene: TBCE were changed from encephalopathy; peripheral neuropathy to Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM:617207
25 Oct 2024	Hereditary neuropathy or pain disorder v5.88	TRMT5	Arina Puzriakova Tag Q3_24_promote_green tag was added to TRMT5. Tag Q3_24_NHS_review tag was added to TRMT5.
25 Oct 2024	Hereditary neuropathy or pain disorder v5.87	TRMT5	Arina Puzriakova Publications for gene: TRMT5 were set to 35342985: 26189817: 29021354
25 Oct 2024	Hereditary neuropathy or pain disorder v5.86	TRMT5	Arina Puzriakova Classified gene: TRMT5 as Amber List (moderate evidence)
25 Oct 2024	Hereditary neuropathy or pain disorder v5.86	TRMT5	Arina Puzriakova Added comment: Comment on list classification: New gene added to the panel by Alexander Rossor (UCL Institute of Neurology). There is sufficient evidence to promote this gene to Green at the next GMS panel update. Associated with relevant phenotype in OMIM, but not associated with phenotype in G2P. At least 3 variants reported in at least three cases, together with supportive functional studies. Phenotype is characterised as a highly variable multisystemic disorder, ranging from hypotonia and GDD in infancy to exercise intolerance and muscle weakness in early adulthood. Peripheral neuropathy is a universal feature in all cases. Various other neurological features such as spasticity, cerebellar signs and seizures, and involvement of other organ systems, including the heart, pancreas, and kidney may also be observed.
25 Oct 2024	Hereditary neuropathy or pain disorder v5.86	TRMT5	Arina Puzriakova Gene: trmt5 has been classified as Amber List (Moderate Evidence).
25 Oct 2024	Hereditary neuropathy or pain disorder v5.85	TRMT5	Arina Puzriakova Phenotypes for gene: TRMT5 were changed from develomental delay; spasticity; peripheral neuropathy to Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
25 Oct 2024	Hereditary neuropathy or pain disorder v5.84	UCHL1	Arina Puzriakova Publications for gene: UCHL1 were set to 35986737
25 Oct 2024	Hereditary neuropathy or pain disorder v5.83	UCHL1	Arina Puzriakova Classified gene: UCHL1 as Amber List (moderate evidence)
25 Oct 2024	Hereditary neuropathy or pain disorder v5.83	UCHL1	Arina Puzriakova Added comment: Comment on list classification: Sensorimotor neuropathy has been reported in both Spastic paraplegia 79A, autosomal dominant, OMIM:620221 and Spastic paraplegia 79B, autosomal recessive, OMIM:615491. Sufficient unrelated cases for both MOIs to promote to Green at the next GMS panel update.
25 Oct 2024	Hereditary neuropathy or pain disorder v5.83	UCHL1	Arina Puzriakova Gene: uchl1 has been classified as Amber List (Moderate Evidence).
25 Oct 2024	Hereditary neuropathy or pain disorder v5.82	UCHL1	Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: UCHL1. Tag Q3_24_NHS_review tag was added to gene: UCHL1.
25 Oct 2024	Hereditary neuropathy or pain disorder v5.82	UCHL1	Arina Puzriakova Phenotypes for gene: UCHL1 were changed from spasticity; ataxia; peripheral neuropathy to Spastic paraplegia 79B, autosomal recessive, OMIM:615491; Spastic paraplegia 79A, autosomal dominant, OMIM:620221
25 Oct 2024	Hereditary neuropathy or pain disorder v5.81	UQCRC1	Arina Puzriakova Classified gene: UQCRC1 as Amber List (moderate evidence)
25 Oct 2024	Hereditary neuropathy or pain disorder v5.81	UQCRC1	Arina Puzriakova Added comment: Comment on list classification: Rating Amber based on current evidence - three unrelated individuals with Parkinson's disease and heterozygous variants identified by one group (PMID: 33141179) but results have failed to be replicated in large European and Chinese cohorts (PMIDs: 33779694; 33248804). This matches the latest classification on other GMS panels. Furthermore, polyneuropathy was only confirmed in 1/3 families. Knock-in mice with the affected family variant did exhibit significant reductions in distal CMAP amplitudes compared to WT littermates at 12 months (but not 9 months), as well as a slightly reduced conduction velocity but preserved distal motor latency. Peripheral nerve fibre morphology showed decrease in the diameter of myelinated nerve fibres.
25 Oct 2024	Hereditary neuropathy or pain disorder v5.81	UQCRC1	Arina Puzriakova Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
25 Oct 2024	Hereditary neuropathy or pain disorder v5.80	UQCRC1	Arina Puzriakova Phenotypes for gene: UQCRC1 were changed from parkinsonism; peripheral neuropathy to Parkinsonism with polyneuropathy, OMIM:619279
25 Oct 2024	Hereditary neuropathy or pain disorder v5.79	VPS13D	Arina Puzriakova Phenotypes for gene: VPS13D were changed from ataxia; spasticity; peripheral neuropathy to Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317
25 Oct 2024	Hereditary neuropathy or pain disorder v5.78	VPS13D	Arina Puzriakova Classified gene: VPS13D as Amber List (moderate evidence)
25 Oct 2024	Hereditary neuropathy or pain disorder v5.78	VPS13D	Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). There is sufficient evidence to promote this gene to Green at the next GMS panel update. Biallelic variants in VPS13D cause a progressive spinocerebellar ataxia which can be associated with mild to moderate axonal sensorineural peripheral neuropathy. Sufficient unrelated cases to justify inclusion on the panel.
25 Oct 2024	Hereditary neuropathy or pain disorder v5.78	VPS13D	Arina Puzriakova Gene: vps13d has been classified as Amber List (Moderate Evidence).
25 Oct 2024	Hereditary neuropathy or pain disorder v5.77	VPS13D	Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: VPS13D. Tag Q3_24_NHS_review tag was added to gene: VPS13D.
24 Oct 2024	Hereditary neuropathy or pain disorder v5.77	NUDT2	Achchuthan Shanmugasundram Tag watchlist was removed from gene: NUDT2. Tag Q3_24_promote_green tag was added to gene: NUDT2. Tag Q3_24_NHS_review tag was added to gene: NUDT2.
24 Oct 2024	Hereditary neuropathy or pain disorder v5.77	NUDT2	Achchuthan Shanmugasundram Classified gene: NUDT2 as Amber List (moderate evidence)
24 Oct 2024	Hereditary neuropathy or pain disorder v5.77	NUDT2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available now for the promotion of this gene to green rating in the next GMS update.
24 Oct 2024	Hereditary neuropathy or pain disorder v5.77	NUDT2	Achchuthan Shanmugasundram Gene: nudt2 has been classified as Amber List (Moderate Evidence).
24 Oct 2024	Hereditary neuropathy or pain disorder v5.76	NUDT2	Achchuthan Shanmugasundram Phenotypes for gene: NUDT2 were changed from Sensorimotor polyneuropathy; Muscular hypotonia; Intellectual disability; no OMIM number to Intellectual developmental disorder with or without peripheral neuropathy, OMIM:619844
24 Oct 2024	Hereditary neuropathy or pain disorder v5.75	NUDT2	Achchuthan Shanmugasundram Publications for gene: NUDT2 were set to 33058507
24 Oct 2024	Hereditary neuropathy or pain disorder v5.74	NUDT2	Achchuthan Shanmugasundram edited their review of gene: NUDT2: Changed rating: GREEN
24 Oct 2024	Hereditary neuropathy or pain disorder v5.74	NUDT2	Achchuthan Shanmugasundram edited their review of gene: NUDT2: Added comment: As reviewed by Alexander Rossor, PMID:38141063 reported 18 patients from 10 different families with a neurological disorder typified by intellectual disability, motor developmental delay and gait disturbance and they were all identified with biallelic NUDT2 variants. 71% of these patients had sensorimotor neuropathy.; Changed publications to: 27431290, 30059600, 33058507, 38141063
24 Oct 2024	Hereditary neuropathy or pain disorder v5.74	NARS	Achchuthan Shanmugasundram commented on gene: NARS: The new gene name for NARS is NARS1.
24 Oct 2024	Hereditary neuropathy or pain disorder v5.74	NARS	Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: NARS.
24 Oct 2024	Hereditary neuropathy or pain disorder v5.74	NARS	Achchuthan Shanmugasundram Classified gene: NARS as Amber List (moderate evidence)
24 Oct 2024	Hereditary neuropathy or pain disorder v5.74	NARS	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene top green rating on the next GMS update. The MOI can be set as 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal" as there are at least three cases reported with both modes of inheritance.
24 Oct 2024	Hereditary neuropathy or pain disorder v5.74	NARS	Achchuthan Shanmugasundram Gene: nars has been classified as Amber List (Moderate Evidence).
24 Oct 2024	Hereditary neuropathy or pain disorder v5.73	NARS	Achchuthan Shanmugasundram Phenotypes for gene: NARS were changed from developmental delay; seizures; peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092
24 Oct 2024	Hereditary neuropathy or pain disorder v5.72	NARS	Achchuthan Shanmugasundram changed review comment from: PMID:32738225 reported a total of 24 patients from 13 unrelated families with biallelic variants in the NARS1 gene and 8 unrelated patients with de novo heterozygous variants in the NARS1 gene. They presented with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia. Neuropathy was present in four patients from three families with biallelic variants and three unrelated individuals with monoallelic variants. This gene has been associated with relevant phenotypes in both OMIM (MIMs #619091 & #619092) and Gene2Phenotype (monoallelic condition with 'strong' rating and biallelic condition with 'definitive' rating on the DD panel). This gene is also present with green rating on the 'Hereditary Neuropathy - complex' panel of PanelApp Australia.; to: PMID:32738225 reported a total of 24 patients from 13 unrelated families with biallelic variants in the NARS1 gene and 8 unrelated patients with de novo heterozygous variants in the NARS1 gene. They presented with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia. Neuropathy was present in four patients from three families with biallelic variants and three unrelated individuals with monoallelic variants. In addition, supportive functional data is also present. This gene has been associated with relevant phenotypes in both OMIM (MIMs #619091 & #619092) and Gene2Phenotype (monoallelic condition with 'strong' rating and biallelic condition with 'definitive' rating on the DD panel). This gene is also present with green rating on the 'Hereditary Neuropathy - complex' panel of PanelApp Australia.
24 Oct 2024	Hereditary neuropathy or pain disorder v5.72	NARS	Achchuthan Shanmugasundram Publications for gene: NARS were set to 32738225:
24 Oct 2024	Hereditary neuropathy or pain disorder v5.71	NARS	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NARS. Tag Q3_24_NHS_review tag was added to gene: NARS.
24 Oct 2024	Hereditary neuropathy or pain disorder v5.71	NARS	Achchuthan Shanmugasundram reviewed gene: NARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 32738225, 32788587; Phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Oct 2024	Hereditary neuropathy or pain disorder v5.71	FICD	Achchuthan Shanmugasundram Classified gene: FICD as Amber List (moderate evidence)
23 Oct 2024	Hereditary neuropathy or pain disorder v5.71	FICD	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated families with the same homozygous variant and functional studies) for the association of this gene with green rating in the next GMS update.
23 Oct 2024	Hereditary neuropathy or pain disorder v5.71	FICD	Achchuthan Shanmugasundram Gene: ficd has been classified as Amber List (Moderate Evidence).
23 Oct 2024	Hereditary neuropathy or pain disorder v5.70	FICD	Achchuthan Shanmugasundram gene: FICD was added gene: FICD was added to Hereditary neuropathy or pain disorder. Sources: Literature Q3_24_promote_green tags were added to gene: FICD. Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FICD were set to 36136088 Phenotypes for gene: FICD were set to Spastic paraplegia 92, autosomal recessive, OMIM:620911 Review for gene: FICD was set to GREEN Added comment: PMID:36136088 reported three unrelated families with recurrent homozygous missense variant in FICD gene (p.Arg374His) and the patients presented with a a neurodegenerative disease of upper and lower motor neurons. A patient from one further family was identified with compound heterozygous variants in FICD gene (p.Arg374His and p.Gly370GlufsTer53). All these patients had onset of symptoms in childhood with progressive course. Their clinical manifestations included severe lower limb spasticity and mild upper limb spasticity. In addition, nerve conduction test showed motor neuropathy in the four patients with homozygous p.Arg374His variant, whereas this test was not done in the patient with compound heterozygous variants. Fibroblasts from patients with FICD variants have abnormally increased levels of AMPylated and thus inactivated BiP. This gene has been associated with relevant phenotypes in OMIM (MIM #620911). Sources: Literature
23 Oct 2024	Hereditary neuropathy or pain disorder v5.69	FDXR	Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: FDXR. Tag Q3_24_NHS_review tag was added to gene: FDXR.
23 Oct 2024	Hereditary neuropathy or pain disorder v5.69	FDXR	Arina Puzriakova Classified gene: FDXR as Amber List (moderate evidence)
23 Oct 2024	Hereditary neuropathy or pain disorder v5.69	FDXR	Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). There is sufficient evidence to promote this gene to Green at the next GMS panel update. Review by Masnada et al (2023) of 44 individuals from 35 families reported in literature with FDXR variants revealed sensorimotor peripheral polyneuropathy in more than 20% of patients. In most cases peripheral neuropathy manifests in late stages of disease but presentation since clinical onset has also been described. Other common features include optic neuropathy (93.2%) and acoustic neuropathy (50%).
23 Oct 2024	Hereditary neuropathy or pain disorder v5.69	FDXR	Arina Puzriakova Gene: fdxr has been classified as Amber List (Moderate Evidence).
23 Oct 2024	Hereditary neuropathy or pain disorder v5.68	FDXR	Arina Puzriakova Publications for gene: FDXR were set to 37046037: 30250212 :
23 Oct 2024	Hereditary neuropathy or pain disorder v5.67	FDXR	Arina Puzriakova Phenotypes for gene: FDXR were changed from optic neuropathy; auditory neuropathy; peripheral neuropathy to Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
23 Oct 2024	Hereditary neuropathy or pain disorder v5.66	EMILIN1	Arina Puzriakova changed review comment from: Comment on list classification: This is now sufficient evidence to promote this gene to Green at the next GMS panel update. At least three unrelated families reported with heterozygous variant in the EMILIN1 gene and neuropathy. The third family includes a proband with childhood-onset sensory-motor neuropathy and pyramidal signs (ataxic-spastic gait). Sequencing revealed two heterozygous missense variants, c.544G>A and c.546G>C, which authors renamed as c.544_546GAG>AAC (p.E182N) as the variants were in cis and located at the same protein residue. The proband's mother, carrying the same variant, presented with a milder peripheral nerve disorder, hypermobility of joints and ligamentous laxity, and moderate inflammatory arthropathy.; to: Comment on list classification: This is now sufficient evidence to promote this gene to Green at the next GMS panel update. At least three unrelated families reported with heterozygous variant in the EMILIN1 gene and neuropathy. The third family (PMID:38963291) includes a proband with childhood-onset sensory-motor neuropathy and pyramidal signs (ataxic-spastic gait). Sequencing revealed two heterozygous missense variants, c.544G>A and c.546G>C, which authors renamed as c.544_546GAG>AAC (p.E182N) as the variants were in cis and located at the same protein residue. The proband's mother, carrying the same variant, presented with a milder peripheral nerve disorder, hypermobility of joints and ligamentous laxity, and moderate inflammatory arthropathy.
23 Oct 2024	Hereditary neuropathy or pain disorder v5.66	EMILIN1	Arina Puzriakova Classified gene: EMILIN1 as Amber List (moderate evidence)
23 Oct 2024	Hereditary neuropathy or pain disorder v5.66	EMILIN1	Arina Puzriakova Added comment: Comment on list classification: This is now sufficient evidence to promote this gene to Green at the next GMS panel update. At least three unrelated families reported with heterozygous variant in the EMILIN1 gene and neuropathy. The third family includes a proband with childhood-onset sensory-motor neuropathy and pyramidal signs (ataxic-spastic gait). Sequencing revealed two heterozygous missense variants, c.544G>A and c.546G>C, which authors renamed as c.544_546GAG>AAC (p.E182N) as the variants were in cis and located at the same protein residue. The proband's mother, carrying the same variant, presented with a milder peripheral nerve disorder, hypermobility of joints and ligamentous laxity, and moderate inflammatory arthropathy.
23 Oct 2024	Hereditary neuropathy or pain disorder v5.66	EMILIN1	Arina Puzriakova Gene: emilin1 has been classified as Amber List (Moderate Evidence).
23 Oct 2024	Hereditary neuropathy or pain disorder v5.65	EMILIN1	Arina Puzriakova Publications for gene: EMILIN1 were set to 31978608; 26462740
23 Oct 2024	Hereditary neuropathy or pain disorder v5.64	EMILIN1	Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: EMILIN1. Tag Q3_24_NHS_review tag was added to gene: EMILIN1.
22 Oct 2024	Hereditary neuropathy or pain disorder v5.64	AP5Z1	Sarah Leigh Phenotypes for gene: AP5Z1 were changed from spasticity; ataxia; retinopathy; neuropathy; parkinsonism to Spastic paraplegia 48, autosomal recessive, OMIM:613647; hereditary spastic paraplegia 48, MONDO:0013342
22 Oct 2024	Hereditary neuropathy or pain disorder v5.63	AP5Z1	Sarah Leigh Classified gene: AP5Z1 as Amber List (moderate evidence)
22 Oct 2024	Hereditary neuropathy or pain disorder v5.63	AP5Z1	Sarah Leigh Gene: ap5z1 has been classified as Amber List (Moderate Evidence).
22 Oct 2024	Hereditary neuropathy or pain disorder v5.62	AMPD2	Sarah Leigh reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
22 Oct 2024	Hereditary neuropathy or pain disorder v5.62	AMPD2	Sarah Leigh Phenotypes for gene: AMPD2 were changed from pontocerebellar hypoplasia, axonal neuropathy, to Pontocerebellar hypoplasia, type 9, OMIM:615809; pontocerebellar hypoplasia type 9, MONDO:0014351
22 Oct 2024	Hereditary neuropathy or pain disorder v5.61	AMPD2	Sarah Leigh Classified gene: AMPD2 as Amber List (moderate evidence)
22 Oct 2024	Hereditary neuropathy or pain disorder v5.61	AMPD2	Sarah Leigh Gene: ampd2 has been classified as Amber List (Moderate Evidence).
22 Oct 2024	Hereditary neuropathy or pain disorder v5.60	AMACR	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: AMACR. Tag Q3_24_NHS_review tag was added to gene: AMACR.
22 Oct 2024	Hereditary neuropathy or pain disorder v5.60	AMACR	Sarah Leigh reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
22 Oct 2024	Hereditary neuropathy or pain disorder v5.60	AMACR	Sarah Leigh Publications for gene: AMACR were set to 21576695; 10655068; 20821052; 18032455
22 Oct 2024	Hereditary neuropathy or pain disorder v5.59	AMACR	Sarah Leigh Phenotypes for gene: AMACR were changed from cerebellar ataxia; peripheral neuropathy; seizures; cataracts; retinitis pigmentosa to Alpha-methylacyl-CoA racemase deficiency, OMIM:614307; alpha-methylacyl-CoA racemase deficiency, MONDO:0013681
22 Oct 2024	Hereditary neuropathy or pain disorder v5.58	AMACR	Sarah Leigh Classified gene: AMACR as Amber List (moderate evidence)
22 Oct 2024	Hereditary neuropathy or pain disorder v5.58	AMACR	Sarah Leigh Gene: amacr has been classified as Amber List (Moderate Evidence).
22 Oct 2024	Hereditary neuropathy or pain disorder v5.57	ALDH18A1	Sarah Leigh reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
22 Oct 2024	Hereditary neuropathy or pain disorder v5.57	ALDH18A1	Sarah Leigh Classified gene: ALDH18A1 as Amber List (moderate evidence)
22 Oct 2024	Hereditary neuropathy or pain disorder v5.57	ALDH18A1	Sarah Leigh Gene: aldh18a1 has been classified as Amber List (Moderate Evidence).
22 Oct 2024	Hereditary neuropathy or pain disorder v5.56	ALDH18A1	Sarah Leigh Phenotypes for gene: ALDH18A1 were changed from spastic paraplegia; cognitive impairment; motor neuronopathy to Spastic paraplegia 9A, autosomal dominant, OMIM:601162; hereditary spastic paraplegia 9A, MONDO:0011006; Spastic paraplegia 9B, autosomal recessive, OMIM:616586; autosomal recessive complex spastic paraplegia type 9B, MONDO:0014702
22 Oct 2024	Hereditary neuropathy or pain disorder v5.55	ALDH18A1	Sarah Leigh Publications for gene: ALDH18A1 were set to https://doi.org/10.1093/brain/awv143
22 Oct 2024	Hereditary neuropathy or pain disorder v5.54	AFG3L2	Sarah Leigh reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
22 Oct 2024	Hereditary neuropathy or pain disorder v5.54	AFG3L2	Sarah Leigh Phenotypes for gene: AFG3L2 were changed from Optic atrophy 12,OMIM; 618977; Spastic ataxia 5, autosomal recessive, OMIM:614487 to Spastic ataxia 5, autosomal recessive, OMIM:614487
22 Oct 2024	Hereditary neuropathy or pain disorder v5.53	AFG3L2	Sarah Leigh Phenotypes for gene: AFG3L2 were changed from spasticity, peripheral neuropathy, ptosis, oculomotor apraxia; dystonia; cerebellar atrophy; progressive myoclonic epilepsy to Optic atrophy 12,OMIM; 618977; Spastic ataxia 5, autosomal recessive, OMIM:614487
22 Oct 2024	Hereditary neuropathy or pain disorder v5.52	AFG3L2	Sarah Leigh Publications for gene: AFG3L2 were set to 22022284:
22 Oct 2024	Hereditary neuropathy or pain disorder v5.51	AFG3L2	Sarah Leigh Classified gene: AFG3L2 as Amber List (moderate evidence)
22 Oct 2024	Hereditary neuropathy or pain disorder v5.51	AFG3L2	Sarah Leigh Gene: afg3l2 has been classified as Amber List (Moderate Evidence).
22 Oct 2024	Hereditary neuropathy or pain disorder v5.50	ADPRHL2	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ADPRHL2. Tag Q3_24_NHS_review tag was added to gene: ADPRHL2.
22 Oct 2024	Hereditary neuropathy or pain disorder v5.50	ADPRHL2	Sarah Leigh reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
22 Oct 2024	Hereditary neuropathy or pain disorder v5.50	ADPRHL2	Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Neurodegeneration; childhood-onset; ataxia; seizure; axonal polyneuropathy to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MONDO:0100095
22 Oct 2024	Hereditary neuropathy or pain disorder v5.49	ADPRHL2	Sarah Leigh Publications for gene: ADPRHL2 were set to 30401461: 30100084
22 Oct 2024	Hereditary neuropathy or pain disorder v5.48	ADPRHL2	Sarah Leigh Classified gene: ADPRHL2 as Amber List (moderate evidence)
22 Oct 2024	Hereditary neuropathy or pain disorder v5.48	ADPRHL2	Sarah Leigh Gene: adprhl2 has been classified as Amber List (Moderate Evidence).
22 Oct 2024	Hereditary neuropathy or pain disorder v5.47	ADGRG6	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ADGRG6. Tag Q3_24_NHS_review tag was added to gene: ADGRG6.
22 Oct 2024	Hereditary neuropathy or pain disorder v5.47	ADGRG6	Sarah Leigh reviewed gene: ADGRG6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
22 Oct 2024	Hereditary neuropathy or pain disorder v5.47	ADGRG6	Sarah Leigh Phenotypes for gene: ADGRG6 were changed from Lethal congenital contracture syndrome 9, OMIM:616503 to Lethal congenital contracture syndrome 9, OMIM:616503; lethal congenital contracture syndrome 9, MONDO:0014670
22 Oct 2024	Hereditary neuropathy or pain disorder v5.46	ADGRG6	Sarah Leigh Phenotypes for gene: ADGRG6 were changed from lethal congenital contracture syndrome; lack of peripheral myelination to Lethal congenital contracture syndrome 9, OMIM:616503
22 Oct 2024	Hereditary neuropathy or pain disorder v5.45	ADGRG6	Sarah Leigh Classified gene: ADGRG6 as Amber List (moderate evidence)
22 Oct 2024	Hereditary neuropathy or pain disorder v5.45	ADGRG6	Sarah Leigh Gene: adgrg6 has been classified as Amber List (Moderate Evidence).
22 Oct 2024	Hereditary neuropathy or pain disorder v5.44	ADCY6	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ADCY6. Tag Q3_24_NHS_review tag was added to gene: ADCY6.
22 Oct 2024	Hereditary neuropathy or pain disorder v5.44	ADCY6	Sarah Leigh reviewed gene: ADCY6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
22 Oct 2024	Hereditary neuropathy or pain disorder v5.44	ADCY6	Sarah Leigh Publications for gene: ADCY6 were set to 31846058: 26257172: 24319099
22 Oct 2024	Hereditary neuropathy or pain disorder v5.43	ADCY6	Sarah Leigh Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, OMIM:616287 to Lethal congenital contracture syndrome 8, OMIM:616287; lethal congenital contracture syndrome 8, MONDO:0014570
22 Oct 2024	Hereditary neuropathy or pain disorder v5.42	ADCY6	Sarah Leigh Phenotypes for gene: ADCY6 were changed from lethal congenital contracture syndrome; loss of axons to Lethal congenital contracture syndrome 8, OMIM:616287
22 Oct 2024	Hereditary neuropathy or pain disorder v5.41	ADCY6	Sarah Leigh Classified gene: ADCY6 as Amber List (moderate evidence)
22 Oct 2024	Hereditary neuropathy or pain disorder v5.41	ADCY6	Sarah Leigh Gene: adcy6 has been classified as Amber List (Moderate Evidence).
22 Oct 2024	Hereditary neuropathy or pain disorder v5.40	ADA2	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ADA2. Tag Q3_24_NHS_review tag was added to gene: ADA2.
22 Oct 2024	Hereditary neuropathy or pain disorder v5.40	ADA2	Sarah Leigh reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
22 Oct 2024	Hereditary neuropathy or pain disorder v5.40	ADA2	Sarah Leigh Phenotypes for gene: ADA2 were changed from VASCULITIS; AUTOINFLAMMATION; IMMUNODEFICIENCY; HEMATOLOGIC DEFECTS; peripheral neuropathy; stroke to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; vasculitis due to ADA2 deficiency, MONDO:0014306
22 Oct 2024	Hereditary neuropathy or pain disorder v5.39	ADA2	Sarah Leigh Classified gene: ADA2 as Amber List (moderate evidence)
22 Oct 2024	Hereditary neuropathy or pain disorder v5.39	ADA2	Sarah Leigh Gene: ada2 has been classified as Amber List (Moderate Evidence).
22 Oct 2024	Hereditary neuropathy or pain disorder v5.38	ABCD1	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ABCD1. Tag Q3_24_NHS_review tag was added to gene: ABCD1.
22 Oct 2024	Hereditary neuropathy or pain disorder v5.38	ABCD1	Sarah Leigh reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24480483, 7904210, 7811247, 8535452, 8566952; Phenotypes: Adrenoleukodystrophy, OMIM:300100, Adrenomyeloneuropathy, adult, OMIM:300100, adrenoleukodystrophy, MONDO:0018544; Mode of inheritance: None
22 Oct 2024	Hereditary neuropathy or pain disorder v5.38	ABCD1	Sarah Leigh Classified gene: ABCD1 as Amber List (moderate evidence)
22 Oct 2024	Hereditary neuropathy or pain disorder v5.38	ABCD1	Sarah Leigh Gene: abcd1 has been classified as Amber List (Moderate Evidence).
21 Oct 2024	Hereditary neuropathy or pain disorder v5.37	ATXN10_ATTCT	Sarah Leigh Tag STR tag was added to STR: ATXN10_ATTCT.
21 Oct 2024	Hereditary neuropathy or pain disorder v5.37	ATXN7_CAG	Sarah Leigh Phenotypes for STR: ATXN7_CAG were changed from Ataxia neuropathy syndromes to Spinocerebellar ataxia 7, OMIM:164500
21 Oct 2024	Hereditary neuropathy or pain disorder v5.36	ATXN7_CAG	Sarah Leigh Classified STR: ATXN7_CAG as Amber List (moderate evidence)
21 Oct 2024	Hereditary neuropathy or pain disorder v5.36	ATXN7_CAG	Sarah Leigh Str: atxn7_cag has been classified as Amber List (Moderate Evidence).
21 Oct 2024	Hereditary neuropathy or pain disorder v5.35	ATXN7_CAG	Sarah Leigh STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Q3_24_promote_green, Q3_24_NHS_review, STR tags were added to STR: ATXN7_CAG. Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN7_CAG were set to Ataxia neuropathy syndromes Review for STR: ATXN7_CAG was set to GREEN Added comment: ATXN7_CAG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green. Sources: NHS GMS
21 Oct 2024	Hereditary neuropathy or pain disorder v5.34	ATXN3_CAG	Sarah Leigh Gene was set to ATXN3.
21 Oct 2024	Hereditary neuropathy or pain disorder v5.33	ATXN3_CAG	Sarah Leigh Phenotypes for STR: ATXN3_CAG were changed from Ataxia neuropathy syndromes to Machado-Joseph disease, OMIM:109150
21 Oct 2024	Hereditary neuropathy or pain disorder v5.32	ATXN3_CAG	Sarah Leigh Classified STR: ATXN3_CAG as Amber List (moderate evidence)
21 Oct 2024	Hereditary neuropathy or pain disorder v5.32	ATXN3_CAG	Sarah Leigh Str: atxn3_cag has been classified as Amber List (Moderate Evidence).
21 Oct 2024	Hereditary neuropathy or pain disorder v5.31	ATXN3_CAG	Sarah Leigh STR: ATXN3_CAG was added STR: ATXN3_CAG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Q3_24_promote_green, Q3_24_NHS_review, STR tags were added to STR: ATXN3_CAG. Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN3_CAG were set to Ataxia neuropathy syndromes Review for STR: ATXN3_CAG was set to GREEN Added comment: ATXN3_CAG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green. Sources: NHS GMS
21 Oct 2024	Hereditary neuropathy or pain disorder v5.30	ATXN2_CAG	Sarah Leigh Phenotypes for STR: ATXN2_CAG were changed from Ataxia neuropathy syndromes to Spinocerebellar ataxia 2, OMIM:183090
21 Oct 2024	Hereditary neuropathy or pain disorder v5.29	ATXN2_CAG	Sarah Leigh Classified STR: ATXN2_CAG as Amber List (moderate evidence)
21 Oct 2024	Hereditary neuropathy or pain disorder v5.29	ATXN2_CAG	Sarah Leigh Str: atxn2_cag has been classified as Amber List (Moderate Evidence).
21 Oct 2024	Hereditary neuropathy or pain disorder v5.28	ATXN2_CAG	Sarah Leigh STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Q3_24_promote_green, Q3_24_NHS_review, STR tags were added to STR: ATXN2_CAG. Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN2_CAG were set to Ataxia neuropathy syndromes Review for STR: ATXN2_CAG was set to GREEN Added comment: ATXN2_CAG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green. Sources: NHS GMS
21 Oct 2024	Hereditary neuropathy or pain disorder v5.27	ATXN10_ATTCT	Sarah Leigh Phenotypes for STR: ATXN10_ATTCT were changed from Ataxia neuropathy syndromes to Spinocerebellar ataxia 10, OMIM:603516
21 Oct 2024	Hereditary neuropathy or pain disorder v5.26	ATXN10_ATTCT	Sarah Leigh Classified STR: ATXN10_ATTCT as Amber List (moderate evidence)
21 Oct 2024	Hereditary neuropathy or pain disorder v5.26	ATXN10_ATTCT	Sarah Leigh Str: atxn10_attct has been classified as Amber List (Moderate Evidence).
21 Oct 2024	Hereditary neuropathy or pain disorder v5.25	ATXN10_ATTCT	Sarah Leigh edited their review of STR: ATXN10_ATTCT: Changed rating: GREEN
21 Oct 2024	Hereditary neuropathy or pain disorder v5.25	ATXN10_ATTCT	Sarah Leigh edited their review of STR: ATXN10_ATTCT: Changed rating: AMBER
21 Oct 2024	Hereditary neuropathy or pain disorder v5.25	ATXN10_ATTCT	Sarah Leigh STR: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Q3_24_promote_green, Q3_24_NHS_review tags were added to STR: ATXN10_ATTCT. Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN10_ATTCT were set to Ataxia neuropathy syndromes Review for STR: ATXN10_ATTCT was set to GREEN Added comment: ATXN10_ATTCT has been added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green. Sources: NHS GMS
21 Oct 2024	Hereditary neuropathy or pain disorder v5.24	ATXN1_CAG	Sarah Leigh Tag Q3_24_NHS_review tag was added to STR: ATXN1_CAG.
21 Oct 2024	Hereditary neuropathy or pain disorder v5.24	ATXN1_CAG	Sarah Leigh Tag Q3_24_promote_green tag was added to STR: ATXN1_CAG.
21 Oct 2024	Hereditary neuropathy or pain disorder v5.24	ATXN1_CAG	Sarah Leigh reviewed STR: ATXN1_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia neuropathy syndromes; Mode of inheritance: None
21 Oct 2024	Hereditary neuropathy or pain disorder v5.24	ATXN1_CAG	Sarah Leigh Classified STR: ATXN1_CAG as Amber List (moderate evidence)
21 Oct 2024	Hereditary neuropathy or pain disorder v5.24	ATXN1_CAG	Sarah Leigh Str: atxn1_cag has been classified as Amber List (Moderate Evidence).
21 Oct 2024	Hereditary neuropathy or pain disorder v5.23	ATXN1_CAG	Sarah Leigh Entity copied from Hereditary neuropathy v1.489
21 Oct 2024	Hereditary neuropathy or pain disorder v5.23	ATXN1_CAG	Sarah Leigh STR: ATXN1_CAG was added STR: ATXN1_CAG was added to Hereditary neuropathy or pain disorder. Sources: Expert Review Green,NHS GMS STR tags were added to STR: ATXN1_CAG. Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1, OMIM:164400
21 Oct 2024	Hereditary neuropathy or pain disorder v5.22	FGF14_GAA	Sarah Leigh edited their review of STR: FGF14_GAA: Added comment: FGF14_GAA added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.; Changed rating: GREEN
21 Oct 2024	Hereditary neuropathy or pain disorder v5.22	FMR1_CGG	Sarah Leigh changed review comment from: FMR1_CGG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology).; to: FMR1_CGG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.
21 Oct 2024	Hereditary neuropathy or pain disorder v5.22	FGF14_GAA	Sarah Leigh Classified STR: FGF14_GAA as Amber List (moderate evidence)
21 Oct 2024	Hereditary neuropathy or pain disorder v5.22	FGF14_GAA	Sarah Leigh Added comment: Comment on list classification: FGF14_GAA is not currently reportable, as the coordinates are not present on the analysis pipeline.
21 Oct 2024	Hereditary neuropathy or pain disorder v5.22	FGF14_GAA	Sarah Leigh Str: fgf14_gaa has been classified as Amber List (Moderate Evidence).
21 Oct 2024	Hereditary neuropathy or pain disorder v5.21	FGF14_GAA	Sarah Leigh Entity copied from Hereditary ataxia with onset in adulthood v6.7
21 Oct 2024	Hereditary neuropathy or pain disorder v5.21	FGF14_GAA	Sarah Leigh STR: FGF14_GAA was added STR: FGF14_GAA was added to Hereditary neuropathy or pain disorder. Sources: Expert Review Amber watchlist tags were added to STR: FGF14_GAA. Mode of inheritance for STR: FGF14_GAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FGF14_GAA were set to 36516086; 36493768; 37267898 Phenotypes for STR: FGF14_GAA were set to Spinocerebellar ataxia 27B, late-onset, OMIM: 620174 Penetrance for STR: FGF14_GAA were set to Complete
21 Oct 2024	Hereditary neuropathy or pain disorder v5.20	FMR1_CGG	Sarah Leigh Tag Q3_24_promote_green tag was added to STR: FMR1_CGG. Tag Q3_24_NHS_review tag was added to STR: FMR1_CGG.
21 Oct 2024	Hereditary neuropathy or pain disorder v5.20	FMR1_CGG	Sarah Leigh edited their review of STR: FMR1_CGG: Added comment: FMR1_CGG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology).; Changed rating: GREEN
21 Oct 2024	Hereditary neuropathy or pain disorder v5.20	FMR1_CGG	Sarah Leigh Entity copied from Hereditary neuropathy v1.489
21 Oct 2024	Hereditary neuropathy or pain disorder v5.20	FMR1_CGG	Sarah Leigh STR: FMR1_CGG was added STR: FMR1_CGG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS,Expert Review Amber,Expert Review STR tags were added to STR: FMR1_CGG. Mode of inheritance for STR: FMR1_CGG 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 STR: FMR1_CGG were set to 26212380 Phenotypes for STR: FMR1_CGG were set to Fragile X syndrome, OMIM:300624; Fragile X tremor/ataxia syndrome, OMIM:300623
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	ZFYVE26	Alexander Rossor edited their review of gene: ZFYVE26: Added comment: phenotypically similar to SPG11; Changed publications to: 26492578:27217339: 24833714
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	XPA	Alexander Rossor edited their review of gene: XPA: Added comment: PN seems otbe mostly associated with XPA- Aditional paper attached. Now that R78 inlcudes complex phenotypes should be included; Changed publications to: 2168777: 34627174
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	TWNK	Alexander Rossor edited their review of gene: TWNK: Added comment: Multiple reports of variants cuasing peripheral neuropathy and should be included in R78; Changed publications to: 37932750: 32281099: 32234020: 24061067: 20880070 :
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	TUBB3	Alexander Rossor edited their review of gene: TUBB3: Added comment: multiple affected individuals - unrelated - should be includedin R78 now that includes complex phenotypes; Changed publications to: 34652576 : 25482575; Changed phenotypes to: ptosis, ophthalmoplegia, exotropia, facial weakness, facial dysmorphisms, and, in most cases, distal congenital joint contractures, and subsequently develop intellectual disabilities, gait disorders with proximal joint contractures, Kallmann syndrome (hypogonadotropic hypogonadism and anosmia), and a progressive peripheral neuropathy during the first decade of life
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	TTPA	Alexander Rossor edited their review of gene: TTPA: Added comment: Eripheral neuropathy well established part of this complex phenotype. Now that R78 inlcudes complex phenotypes this gene should be included; Changed publications to: 24369383
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	SPAST	Alexander Rossor commented on gene: SPAST: 23% have peripheralneuropathy and should therefore be inlcuded in R78 as this now includes complex phenotypes
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	SOX10	Alexander Rossor edited their review of gene: SOX10: Added comment: now that r78 inclues complex phenotpyes should presumably be included; Changed publications to: 32150337: 29681101: 28328136
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	PTRH2	Alexander Rossor edited their review of gene: PTRH2: Added comment: Peripheral neuropathy now reportedin multiple unrelated individuals and can be a presenting feature. Shouldbe green and in R78 panel; Changed rating: GREEN; Changed publications to: 25572476, 25558065: 28328138: 31057140: 27129381: 39176129: 38874107
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	PRNP	Alexander Rossor edited their review of gene: PRNP: Added comment: peripheral neuropathy reported as rare presentation of cjd in multiple individuals; Changed publications to: 27716661 : 24224623 : 26768678: 31953922; Changed phenotypes to: cjd, dementia, autonomic neuropathy, sensory neuropathy
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	POLG	Alexander Rossor edited their review of gene: POLG: Added comment: Now R78 includes complex phenotypes this needs to be included as PN well established in POLG disease; Changed publications to: 36703500 : 33791913: 25281868: 38975049; Changed phenotypes to: peripheral neuropathy, CPEO
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	PHYH	Alexander Rossor edited their review of gene: PHYH: Added comment: Refsums disease is a well established (historical) cause of peripheral neuropathy. It is treatable and has to be included in the R78 panel now that it includes complex phenotypes; Changed publications to: 9326940; Changed phenotypes to: Refsums diseasd; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	PDHA1	Alexander Rossor edited their review of gene: PDHA1: Added comment: PN in multiple unrelated individuals and therefore should be includedin R78 panel; Changed rating: GREEN; Changed publications to: 38497591: 36693417: 20002125; Changed phenotypes to: peripheral neuropathy, Leigh syndrome
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	OPA3	Alexander Rossor edited their review of gene: OPA3: Added comment: Peripehral neuropathy reported in multiple unrelated individuals and should be included in panel; Changed publications to: 28050599: 21036400 : 31119193:
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	NUDT2	Alexander Rossor edited their review of gene: NUDT2: Added comment: Recent publication attached showing peripheral neuropathy in several new unrelated individuals so should therefore be green and included in panel; Changed rating: GREEN
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	NUDT2	Alexander Rossor changed review comment from: Recent publication attached showing peripheral neuropathy in several new unrelated individuals so should therefore be green and included in panel; to: Recent publication attached showing peripheral neuropathy in several new unrelated individuals so should therefore be green and included in panel
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	NUDT2	Alexander Rossor reviewed gene: NUDT2: Rating: ; Mode of pathogenicity: None; Publications: 38141063; Phenotypes: developmental delay, neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	HADHB	Alexander Rossor edited their review of gene: HADHB: Added comment: PN well established part of phenotype. Multiple affected families. Now R78 includes complex phenotypes should be included; Changed publications to: 3744096: 28685493: 31521624: 24664533: 28649548: 35235001 : 37388542; Changed phenotypes to: rhabdomyloysis, hypoparathyroidism, peripheral neuropathy
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	HADHA	Alexander Rossor edited their review of gene: HADHA: Added comment: trifucnctional protein deificeincy, inlcudes peripheral neuropathy. NOw R78 includes complex phenotypes should be included; Changed publications to: 23868323: 28132977: 32897397; Changed phenotypes to: rhabdomyloysis, peripheral neuropathy
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	GLA	Alexander Rossor edited their review of gene: GLA: Added comment: small fibren europathy established feature of Fabrys; Changed publications to: 22428782; Changed phenotypes to: small fibre neuropathy, strokes, cardiomyopathy, skin disease
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	FLVCR1	Alexander Rossor edited their review of gene: FLVCR1: Added comment: Multiple additional reports of association with neuropathy. Now R78 includes complex phenotypes should be included; Changed publications to: 21070897: 38405817: 32822874: 28766925: 37469134:
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	FAM126A	Alexander Rossor edited their review of gene: FAM126A: Added comment: Multiple unrelated patients with peripheralneuropathy. Now that R78 includes complex phneotypes needs to be included; Changed publications to: 16951682: 23998934: 21911699: 33531944: 22749724:
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	FAH	Alexander Rossor edited their review of gene: FAH: Added comment: Complex phneotypes now included in R78, reference of 25 patients inlcuded; Changed publications to: 33598652
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	ETFDH	Alexander Rossor edited their review of gene: ETFDH: Added comment: multiple families with neuropathy as part of syndrome, Now R78 includes complex phenotypes should be included; Changed publications to: 32608139: 26821934: 0587156
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	ERCC8	Alexander Rossor edited their review of gene: ERCC8: Added comment: now that R78 includes complex phenotypes sould be included; Changed publications to: 25453614
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	ERCC6	Alexander Rossor edited their review of gene: ERCC6: Added comment: now that R78 includes complex pheotypes should be included; Changed publications to: 25453614
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	EMILIN1	Alexander Rossor reviewed gene: EMILIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38963291; Phenotypes: peripheral neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	DSTYK	Alexander Rossor reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540; Phenotypes: spastic paraplegia, peripheral neuropathy, grey hair; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	DHTKD1	Alexander Rossor commented on gene: DHTKD1: I think this gene should be removed from the panel. The original chinese family reported a lof het allele. LOF is not constrained in DHTKD!, more so recessive LOF variants in DHTKD1 cause Alpha-aminoadipic and alpha-ketoadipic aciduria and these patients do not have a peripheral neuropathy
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	DARS2	Alexander Rossor edited their review of gene: DARS2: Added comment: Multiple additional unrelated individuals with variants in DARS2 and peripheral neuropathy - should now be green; Changed publications to: 28334938: 38790244: 22677571: 38549004; Changed phenotypes to: Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	CTDP1	Alexander Rossor reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10439962: 29174527: 21824574; Phenotypes: cataratcs, facial dysmorphism, peripheral neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	CTDP1	Alexander Rossor Deleted their review
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	COA7	Alexander Rossor edited their review of gene: COA7: Added comment: Multiple additional cases now reported with peripheral neuropathy - should be green and on panle now that R78 includes complex phenotypes; Changed publications to: 29718187: 37264311: 35603692: 27683825
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	CNTNAP1	Alexander Rossor edited their review of gene: CNTNAP1: Added comment: Multiple affected individuals. Now that R78 panel includes complex phenotypes should be green and on panel; Changed publications to: 28374019: 29511323: 27668699: 27782105:; Changed phenotypes to: arthrogryposis, developmental dleay, peripheral neuropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	CD59	Alexander Rossor edited their review of gene: CD59: Added comment: No wthat the R78 panel includes complex phenotypees with peripheral neuropathy this should now be included in the R78 panel; Changed publications to: 23149847, 24382084
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	C12orf65	Alexander Rossor edited their review of gene: C12orf65: Added comment: PN in multiple affected individuals from different families; Changed rating: GREEN; Changed publications to: 24080142: 23188110: 6303658: 24424123: 24198383; Changed phenotypes to: optic atrophy, spasticity, peripheral neuropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	C12orf65	Alexander Rossor Deleted their comment
20 Oct 2024	Hereditary neuropathy or pain disorder v5.19	BAG3	Alexander Rossor edited their review of gene: BAG3: Added comment: Further reports in assocation with PN since my last review, should now be green; Changed publications to: 30145633: 37989284: 37907725; Changed phenotypes to: cardiomyopathy, polyneuropathy
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	AP1S1	Alexander Rossor Deleted their review
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	VPS13D	Alexander Rossor gene: VPS13D was added gene: VPS13D was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13D were set to 29518281: 29604224: 14681893: 11960835 Phenotypes for gene: VPS13D were set to ataxia; spasticity; peripheral neuropathy Penetrance for gene: VPS13D were set to Complete Review for gene: VPS13D was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	UQCRC1	Alexander Rossor gene: UQCRC1 was added gene: UQCRC1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: UQCRC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UQCRC1 were set to 33141179 Phenotypes for gene: UQCRC1 were set to parkinsonism; peripheral neuropathy Penetrance for gene: UQCRC1 were set to Complete Review for gene: UQCRC1 was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	UCHL1	Alexander Rossor gene: UCHL1 was added gene: UCHL1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: UCHL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: UCHL1 were set to 35986737 Phenotypes for gene: UCHL1 were set to spasticity; ataxia; peripheral neuropathy Penetrance for gene: UCHL1 were set to Complete
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	TRMT5	Alexander Rossor gene: TRMT5 was added gene: TRMT5 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT5 were set to 35342985: 26189817: 29021354 Phenotypes for gene: TRMT5 were set to develomental delay; spasticity; peripheral neuropathy Penetrance for gene: TRMT5 were set to Complete Review for gene: TRMT5 was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	TBCE	Alexander Rossor gene: TBCE was added gene: TBCE was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCE were set to 27666369 Phenotypes for gene: TBCE were set to encephalopathy; peripheral neuropathy Penetrance for gene: TBCE were set to Complete Review for gene: TBCE was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	SLC13A3	Alexander Rossor gene: SLC13A3 was added gene: SLC13A3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A3 were set to 37290914 Phenotypes for gene: SLC13A3 were set to acute neuropathy Penetrance for gene: SLC13A3 were set to Complete Review for gene: SLC13A3 was set to AMBER Added comment: one patient with neuropathy in literature Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	SAMD9L	Alexander Rossor gene: SAMD9L was added gene: SAMD9L was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SAMD9L were set to ataxia; peripheral neuropathy; pancytopenia Phenotypes for gene: SAMD9L were set to 32808377: 36553623 : 31053103: 27259050: 28202457 Penetrance for gene: SAMD9L were set to Complete Review for gene: SAMD9L was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	PNPT1	Alexander Rossor gene: PNPT1 was added gene: PNPT1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: PNPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PNPT1 were set to 35411967: 14705117 Phenotypes for gene: PNPT1 were set to ataxia; peripheral neuropathy Penetrance for gene: PNPT1 were set to Complete Review for gene: PNPT1 was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	PLAA	Alexander Rossor gene: PLAA was added gene: PLAA was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLAA were set to 37919452 Phenotypes for gene: PLAA were set to lipodystrophy; peripheral neuropathy Penetrance for gene: PLAA were set to Complete Review for gene: PLAA was set to GREEN Added comment: gene is PLAAT3 Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	PLA2G6	Alexander Rossor gene: PLA2G6 was added gene: PLA2G6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G6 were set to 18443314: 16783378: Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation; peripheral neuropathy Penetrance for gene: PLA2G6 were set to Complete Review for gene: PLA2G6 was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	PIEZO2	Alexander Rossor gene: PIEZO2 was added gene: PIEZO2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIEZO2 were set to 27653382 Phenotypes for gene: PIEZO2 were set to arthrodryposis; sensory neuropathy Penetrance for gene: PIEZO2 were set to Complete Review for gene: PIEZO2 was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	NOP56	Alexander Rossor gene: NOP56 was added gene: NOP56 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: NOP56 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOP56 were set to 22492559: 22744658: 21683323 Phenotypes for gene: NOP56 were set to ataxia; motor neuropathy Penetrance for gene: NOP56 were set to Complete Review for gene: NOP56 was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	NFASC	Alexander Rossor gene: NFASC was added gene: NFASC was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFASC were set to 30850329: 30124836 Phenotypes for gene: NFASC were set to Developmental delay; peripheral neuropathy Penetrance for gene: NFASC were set to Complete Review for gene: NFASC was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	NDUFS6	Alexander Rossor gene: NDUFS6 was added gene: NDUFS6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS6 were set to 38459834 : 38549004 Phenotypes for gene: NDUFS6 were set to peripheral neuropathy; nystagmus Penetrance for gene: NDUFS6 were set to Complete Review for gene: NDUFS6 was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	NARS	Alexander Rossor gene: NARS was added gene: NARS was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NARS were set to 32738225: Phenotypes for gene: NARS were set to developmental delay; seizures; peripheral neuropathy Penetrance for gene: NARS were set to Complete Review for gene: NARS was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	MAPK8IP3	Alexander Rossor gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: MAPK8IP3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MAPK8IP3 were set to 37462082: 30945334 Phenotypes for gene: MAPK8IP3 were set to developmental delay; motor axonal neuropathy Penetrance for gene: MAPK8IP3 were set to Complete Review for gene: MAPK8IP3 was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	HPDL	Alexander Rossor gene: HPDL was added gene: HPDL was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 32707086 Phenotypes for gene: HPDL were set to developmental delay; spastic paraplegia; peripheral neuropathy Penetrance for gene: HPDL were set to Complete Review for gene: HPDL was set to GREEN Added comment: 3 had peripheral neuropathy Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	FDXR	Alexander Rossor gene: FDXR was added gene: FDXR was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDXR were set to 37046037: 30250212 : Phenotypes for gene: FDXR were set to optic neuropathy; auditory neuropathy; peripheral neuropathy Penetrance for gene: FDXR were set to Complete Review for gene: FDXR was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	FA2H	Alexander Rossor edited their review of gene: FA2H: Added comment: peripheral neuropathy now reportedin 3 additional patients; Changed rating: GREEN; Changed publications to: 22146942:31135052
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	EXOSC3	Alexander Rossor gene: EXOSC3 was added gene: EXOSC3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC3 were set to 23564332:24524299:25149867:12548734 Phenotypes for gene: EXOSC3 were set to pontocerebellar hypoplasia; motor neuropathy Penetrance for gene: EXOSC3 were set to Complete Review for gene: EXOSC3 was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	MFF	Alexander Rossor gene: MFF was added gene: MFF was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFF were set to 26783368 Phenotypes for gene: MFF were set to encephalopathy; developmental delay; peripheral neuropathy in some Penetrance for gene: MFF were set to Complete Review for gene: MFF was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	DMXL2	Alexander Rossor gene: DMXL2 was added gene: DMXL2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMXL2 were set to 31688942 Phenotypes for gene: DMXL2 were set to developmental encephalopathy; deafness; mild peripheral polyneuropathy; dysmorphic features Penetrance for gene: DMXL2 were set to Complete Review for gene: DMXL2 was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	CYP2U1	Alexander Rossor gene: CYP2U1 was added gene: CYP2U1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP2U1 were set to 23176821 Phenotypes for gene: CYP2U1 were set to spastic paraplegia; cognitive impairment; subvlincial peripheral neuropathy Penetrance for gene: CYP2U1 were set to Complete Review for gene: CYP2U1 was set to GREEN Added comment: Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	CLP1	Alexander Rossor gene: CLP1 was added gene: CLP1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLP1 were set to 24766809 Phenotypes for gene: CLP1 were set to pontocerbeelar hypoplasia, peripheral neuropathy Penetrance for gene: CLP1 were set to Complete Review for gene: CLP1 was set to GREEN Added comment: Multiple affected individuals with peripheral neuropathy on ncs Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	CAPN1	Alexander Rossor gene: CAPN1 was added gene: CAPN1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN1 were set to 27153400 Phenotypes for gene: CAPN1 were set to spasticity; pes cavus; peripheral neuropathy Penetrance for gene: CAPN1 were set to Complete Review for gene: CAPN1 was set to GREEN Added comment: 3 families Sources: Expert list
19 Oct 2024	Hereditary neuropathy or pain disorder v5.19	DSTYK	Alexander Rossor Deleted their review
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	DHH	Alexander Rossor edited their review of gene: DHH: Added comment: Multipel reports of this syndrome causing peripheral neuropathy. Should be added to panel; Changed rating: GREEN; Changed publications to: 29471294: 11891836: 11017805: 25927242: 33107133; Changed phenotypes to: gonadal dysgenesis, peripheral neuropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	ATP13A2	Alexander Rossor gene: ATP13A2 was added gene: ATP13A2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP13A2 were set to 28137957: Phenotypes for gene: ATP13A2 were set to spastic paraplegia; cognitive impairment; peripheral neuropathy Penetrance for gene: ATP13A2 were set to Complete Review for gene: ATP13A2 was set to GREEN Added comment: Peripheral neuropathy in individuals from 3 different families Sources: Expert list
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	ATM	Alexander Rossor edited their review of gene: ATM: Added comment: Should now be included as R78 has extended its scope to include complex phenotypes that include neuropathy such as ataxia telangiectasia; Changed rating: GREEN; Changed publications to: 37553836; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	ATL3	Alexander Rossor edited their review of gene: ATL3: Added comment: 3rd indivudla reported with domintant ATL3 and neuropathy; Changed publications to: 30680846
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	ATAD3A	Alexander Rossor gene: ATAD3A was added gene: ATAD3A was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 27640307 Phenotypes for gene: ATAD3A were set to global developmental delay; hypotonia; optic atrophy; axonal neuropathy; hypertrophic cardiomyopathy Penetrance for gene: ATAD3A were set to Complete Mode of pathogenicity for gene: ATAD3A was set to Other Review for gene: ATAD3A was set to GREEN Added comment: Both de novo and recessive. Multiple unrelated indivudals reported with axonal neuropathy Sources: Expert list
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	ASAH1	Alexander Rossor gene: ASAH1 was added gene: ASAH1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASAH1 were set to 24164096: 12571787: 534421: 22703880 Phenotypes for gene: ASAH1 were set to Progressive myoclonic epilepsy; motor neuropathy Penetrance for gene: ASAH1 were set to Complete Review for gene: ASAH1 was set to GREEN Added comment: multiple affected individuals with peripheral neuropathy Sources: Expert list
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	ARSA	Alexander Rossor commented on gene: ARSA: Now a broad panel so this gene should be includedin R78
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	ARL6IP1	Alexander Rossor edited their review of gene: ARL6IP1: Changed rating: GREEN
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	ARL6IP1	Alexander Rossor changed review comment from: multiple individuals with neuropathy; to: multiple individuals with neuropathy
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	ARL6IP1	Alexander Rossor reviewed gene: ARL6IP1: Rating: ; Mode of pathogenicity: None; Publications: 28471035: 24482476: 31272422; Phenotypes: Spastic paraplegia, neuropathy; Mode of inheritance: None
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	ARL6IP1	Alexander Rossor Deleted their review
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	APTX	Alexander Rossor commented on gene: APTX: As per previous comments, complex phenotype, lots of evidence causes neuropathy as submitted i multiuple previous reviews
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	AP5Z1	Alexander Rossor gene: AP5Z1 was added gene: AP5Z1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5Z1 were set to 26085577 Phenotypes for gene: AP5Z1 were set to spasticity; ataxia; retinopathy; neuropathy; parkinsonism Penetrance for gene: AP5Z1 were set to Complete Review for gene: AP5Z1 was set to AMBER Added comment: only a single patient with neuropathy Sources: Expert list
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	AP1S1	Alexander Rossor commented on gene: AP1S1: Scope of panel has been extended. 4 families with same splice site variant
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	AMPD2	Alexander Rossor gene: AMPD2 was added gene: AMPD2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to 27066553 Phenotypes for gene: AMPD2 were set to pontocerebellar hypoplasia, axonal neuropathy, Review for gene: AMPD2 was set to AMBER Added comment: Neuropathy in two individuals Sources: Expert list
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	AAAS	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: AAAS. Tag Q3_24_NHS_review tag was added to gene: AAAS.
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	AAAS	Sarah Leigh reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
15 Oct 2024	Hereditary neuropathy or pain disorder v5.19	AAAS	Sarah Leigh Publications for gene: AAAS were set to 34796249
15 Oct 2024	Hereditary neuropathy or pain disorder v5.18	AAAS	Sarah Leigh Phenotypes for gene: AAAS were changed from ACHALASIA; ADDISONIANISM; ALACRIMA; peripheral neuropathy to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279
15 Oct 2024	Hereditary neuropathy or pain disorder v5.17	AAAS	Sarah Leigh Classified gene: AAAS as Amber List (moderate evidence)
15 Oct 2024	Hereditary neuropathy or pain disorder v5.17	AAAS	Sarah Leigh Gene: aaas has been classified as Amber List (Moderate Evidence).
14 Oct 2024	Hereditary neuropathy or pain disorder v5.16	AMACR	Alexander Rossor gene: AMACR was added gene: AMACR was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMACR were set to 21576695; 10655068; 20821052; 18032455 Phenotypes for gene: AMACR were set to cerebellar ataxia; peripheral neuropathy; seizures; cataracts; retinitis pigmentosa Penetrance for gene: AMACR were set to Complete Review for gene: AMACR was set to GREEN Added comment: multipel reports with peripheral neuropathy Sources: Expert list
14 Oct 2024	Hereditary neuropathy or pain disorder v5.16	ALDH18A1	Alexander Rossor gene: ALDH18A1 was added gene: ALDH18A1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALDH18A1 were set to https://doi.org/10.1093/brain/awv143 Phenotypes for gene: ALDH18A1 were set to spastic paraplegia; cognitive impairment; motor neuronopathy Penetrance for gene: ALDH18A1 were set to Complete Review for gene: ALDH18A1 was set to AMBER Added comment: Currently present in several members of two unrelated families Sources: Expert list
10 Oct 2024	Hereditary neuropathy or pain disorder v5.16	AFG3L2	Alexander Rossor gene: AFG3L2 was added gene: AFG3L2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: AFG3L2 were set to 22022284: Phenotypes for gene: AFG3L2 were set to spasticity, peripheral neuropathy, ptosis, oculomotor apraxia; dystonia; cerebellar atrophy; progressive myoclonic epilepsy Penetrance for gene: AFG3L2 were set to Complete Review for gene: AFG3L2 was set to AMBER Added comment: I think Amber, only a single family Sources: Expert list
10 Oct 2024	Hereditary neuropathy or pain disorder v5.16	ADPRHL2	Alexander Rossor gene: ADPRHL2 was added gene: ADPRHL2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADPRHL2 were set to 30401461: 30100084 Phenotypes for gene: ADPRHL2 were set to Neurodegeneration; childhood-onset; ataxia; seizure; axonal polyneuropathy Penetrance for gene: ADPRHL2 were set to Complete Review for gene: ADPRHL2 was set to GREEN Added comment: Sources: Expert list
10 Oct 2024	Hereditary neuropathy or pain disorder v5.16	ADGRG6	Alexander Rossor gene: ADGRG6 was added gene: ADGRG6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADGRG6 were set to 26004201 Phenotypes for gene: ADGRG6 were set to lethal congenital contracture syndrome; lack of peripheral myelination Penetrance for gene: ADGRG6 were set to Complete Review for gene: ADGRG6 was set to GREEN Added comment: 4 individuals, 3 unrelated families, absence of myelinated axons on post mortem Sources: Expert list
10 Oct 2024	Hereditary neuropathy or pain disorder v5.16	ADCY6	Alexander Rossor gene: ADCY6 was added gene: ADCY6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADCY6 were set to 31846058: 26257172: 24319099 Phenotypes for gene: ADCY6 were set to lethal congenital contracture syndrome; loss of axons Penetrance for gene: ADCY6 were set to Complete Review for gene: ADCY6 was set to GREEN Added comment: Sources: Expert list
10 Oct 2024	Hereditary neuropathy or pain disorder v5.16	ADA2	Alexander Rossor gene: ADA2 was added gene: ADA2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 34210540:37584090 Phenotypes for gene: ADA2 were set to VASCULITIS; AUTOINFLAMMATION; IMMUNODEFICIENCY; HEMATOLOGIC DEFECTS; peripheral neuropathy; stroke Penetrance for gene: ADA2 were set to Complete Review for gene: ADA2 was set to GREEN Added comment: Sources: Expert list
10 Oct 2024	Hereditary neuropathy or pain disorder v5.16	ABCD1	Alexander Rossor gene: ABCD1 was added gene: ABCD1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ABCD1 were set to https://doi.org/10.1093/brain/awt361 Phenotypes for gene: ABCD1 were set to adreno leukodystrophy; adrenomyeloneuropathy Penetrance for gene: ABCD1 were set to Complete Review for gene: ABCD1 was set to GREEN Added comment: Peripheral neuropathy in 50% female carriers Sources: Expert list
10 Oct 2024	Hereditary neuropathy or pain disorder v5.16	AAAS	Alexander Rossor gene: AAAS was added gene: AAAS was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AAAS were set to 34796249 Phenotypes for gene: AAAS were set to ACHALASIA; ADDISONIANISM; ALACRIMA; peripheral neuropathy Penetrance for gene: AAAS were set to Complete Review for gene: AAAS was set to GREEN Added comment: Sources: Expert list
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	XK	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: XK. Tag Q2_24_NHS_review was removed from gene: XK.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	TYMP	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: TYMP. Tag Q2_24_NHS_review was removed from gene: TYMP.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	SURF1	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SURF1. Tag Q2_24_NHS_review was removed from gene: SURF1.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	SLC25A19	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SLC25A19. Tag Q2_24_NHS_review was removed from gene: SLC25A19.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	SCARB2	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SCARB2. Tag Q2_24_NHS_review was removed from gene: SCARB2.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	SACS	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SACS. Tag Q2_24_NHS_review was removed from gene: SACS.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	RTN2	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: RTN2. Tag Q2_24_NHS_review was removed from gene: RTN2.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	POLR3A	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: POLR3A. Tag Q2_24_NHS_review was removed from gene: POLR3A.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	PNPLA6	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PNPLA6. Tag Q2_24_NHS_review was removed from gene: PNPLA6.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	PMM2	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PMM2. Tag Q2_24_NHS_review was removed from gene: PMM2.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	PLP1	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PLP1. Tag Q2_24_NHS_review was removed from gene: PLP1.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	PEX7	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PEX7. Tag Q2_24_NHS_review was removed from gene: PEX7.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	PEX10	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PEX10. Tag Q2_24_NHS_review was removed from gene: PEX10.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	PDYN	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PDYN. Tag Q2_24_NHS_review was removed from gene: PDYN.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	PDXK	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PDXK.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	NAGA	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: NAGA. Tag Q2_24_NHS_review was removed from gene: NAGA.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	MTTP	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MTTP. Tag Q2_24_NHS_review was removed from gene: MTTP.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	MMACHC	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MMACHC. Tag Q2_24_NHS_review was removed from gene: MMACHC.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	LYST	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: LYST. Tag Q2_24_NHS_review was removed from gene: LYST.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	IARS2	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: IARS2. Tag Q2_24_NHS_review was removed from gene: IARS2.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	GBA2	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GBA2. Tag Q2_24_NHS_review was removed from gene: GBA2.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	GAN	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GAN. Tag Q2_24_NHS_review was removed from gene: GAN.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	GALC	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GALC. Tag Q2_24_NHS_review was removed from gene: GALC.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	FXN	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: FXN. Tag Q2_24_NHS_review was removed from gene: FXN.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	CADM3	Achchuthan Shanmugasundram Tag watchlist was removed from gene: CADM3. Tag Q2_24_promote_green was removed from gene: CADM3. Tag Q2_24_NHS_review was removed from gene: CADM3.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	BCKDHB	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: BCKDHB. Tag Q2_24_NHS_review was removed from gene: BCKDHB.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	B4GALNT1	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: B4GALNT1. Tag Q2_24_NHS_review was removed from gene: B4GALNT1.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	APOA1	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: APOA1. Tag Q2_24_NHS_review was removed from gene: APOA1.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	AGXT	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: AGXT. Tag Q2_24_NHS_review was removed from gene: AGXT.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	ABHD12	Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ABHD12. Tag Q2_24_NHS_review was removed from gene: ABHD12.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	SPG7	Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: SPG7. Tag Q1_24_NHS_review was removed from gene: SPG7.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	HMBS	Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: HMBS.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	COQ7	Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: COQ7. Tag Q1_24_NHS_review was removed from gene: COQ7.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	XK	Achchuthan Shanmugasundram reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	TYMP	Achchuthan Shanmugasundram reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	SURF1	Achchuthan Shanmugasundram reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	SPG7	Achchuthan Shanmugasundram reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	SLC25A19	Achchuthan Shanmugasundram reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	SCARB2	Achchuthan Shanmugasundram reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	SACS	Achchuthan Shanmugasundram reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	RTN2	Achchuthan Shanmugasundram commented on gene: RTN2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	POLR3A	Achchuthan Shanmugasundram reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	PNPLA6	Achchuthan Shanmugasundram reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	PMM2	Achchuthan Shanmugasundram reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	PLP1	Achchuthan Shanmugasundram reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	PEX7	Achchuthan Shanmugasundram reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	PEX10	Achchuthan Shanmugasundram reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	PDYN	Achchuthan Shanmugasundram reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	PDXK	Achchuthan Shanmugasundram commented on gene: PDXK: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	NAGA	Achchuthan Shanmugasundram reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	MTTP	Achchuthan Shanmugasundram reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	MMACHC	Achchuthan Shanmugasundram reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	LYST	Achchuthan Shanmugasundram reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	IARS2	Achchuthan Shanmugasundram reviewed gene: IARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	HMBS	Achchuthan Shanmugasundram commented on gene: HMBS: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	GBA2	Achchuthan Shanmugasundram reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	GAN	Achchuthan Shanmugasundram reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	GALC	Achchuthan Shanmugasundram reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	FXN	Achchuthan Shanmugasundram reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	COQ7	Achchuthan Shanmugasundram commented on gene: COQ7: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	CADM3	Achchuthan Shanmugasundram commented on gene: CADM3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	BCKDHB	Achchuthan Shanmugasundram reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	B4GALNT1	Achchuthan Shanmugasundram reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	APOA1	Achchuthan Shanmugasundram reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	AGXT	Achchuthan Shanmugasundram reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.16	ABHD12	Achchuthan Shanmugasundram reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	XK	Achchuthan Shanmugasundram Source Expert Review Green was added to XK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	TYMP	Achchuthan Shanmugasundram Source Expert Review Green was added to TYMP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	SURF1	Achchuthan Shanmugasundram Source Expert Review Green was added to SURF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	SPG7	Achchuthan Shanmugasundram Source Expert Review Green was added to SPG7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	SLC25A19	Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A19. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	SCARB2	Achchuthan Shanmugasundram Source Expert Review Green was added to SCARB2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	SACS	Achchuthan Shanmugasundram Source Expert Review Green was added to SACS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	RTN2	Achchuthan Shanmugasundram Source NHS GMS was added to RTN2. Source Expert Review Green was added to RTN2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	POLR3A	Achchuthan Shanmugasundram Source Expert Review Green was added to POLR3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	PNPLA6	Achchuthan Shanmugasundram Source Expert Review Green was added to PNPLA6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	PMM2	Achchuthan Shanmugasundram Source Expert Review Green was added to PMM2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	PLP1	Achchuthan Shanmugasundram Source Expert Review Green was added to PLP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	PEX7	Achchuthan Shanmugasundram Source Expert Review Green was added to PEX7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	PEX10	Achchuthan Shanmugasundram Source Expert Review Green was added to PEX10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	PDYN	Achchuthan Shanmugasundram Source Expert Review Green was added to PDYN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	PDXK	Achchuthan Shanmugasundram Source NHS GMS was added to PDXK. Source Expert Review Green was added to PDXK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	NAGA	Achchuthan Shanmugasundram Source Expert Review Green was added to NAGA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	MTTP	Achchuthan Shanmugasundram Source Expert Review Green was added to MTTP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	MMACHC	Achchuthan Shanmugasundram Source Expert Review Green was added to MMACHC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	LYST	Achchuthan Shanmugasundram Source Expert Review Green was added to LYST. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	IARS2	Achchuthan Shanmugasundram Source Expert Review Green was added to IARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	HMBS	Achchuthan Shanmugasundram Mode of inheritance for gene HMBS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	GBA2	Achchuthan Shanmugasundram Source Expert Review Green was added to GBA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	GAN	Achchuthan Shanmugasundram Source Expert Review Green was added to GAN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	GALC	Achchuthan Shanmugasundram Source Expert Review Green was added to GALC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	FXN	Achchuthan Shanmugasundram Source Expert Review Green was added to FXN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	COQ7	Achchuthan Shanmugasundram Source Expert Review Green was added to COQ7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	CADM3	Achchuthan Shanmugasundram Source NHS GMS was added to CADM3. Source Expert Review Green was added to CADM3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	BCKDHB	Achchuthan Shanmugasundram Source Expert Review Green was added to BCKDHB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	B4GALNT1	Achchuthan Shanmugasundram Source Expert Review Green was added to B4GALNT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	APOA1	Achchuthan Shanmugasundram Source Expert Review Green was added to APOA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	AGXT	Achchuthan Shanmugasundram Source Expert Review Green was added to AGXT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Hereditary neuropathy or pain disorder v5.15	ABHD12	Achchuthan Shanmugasundram Source Expert Review Green was added to ABHD12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
29 Aug 2024	Hereditary neuropathy or pain disorder v5.14	ARSA	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ARSA. Tag Q3_24_NHS_review tag was added to gene: ARSA.
29 Aug 2024	Hereditary neuropathy or pain disorder v5.14	ARSA	Sarah Leigh Publications for gene: ARSA were set to
29 Aug 2024	Hereditary neuropathy or pain disorder v5.13	ARSA	Sarah Leigh reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1670590, 9600244, 1673291, 1684088; Phenotypes: ; Mode of inheritance: None
29 Aug 2024	Hereditary neuropathy or pain disorder v5.13	ARSA	Sarah Leigh Phenotypes for gene: ARSA were changed from Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy; Metachromatic leukodystrophy, 250100 to Metachromatic leukodystrophy, OMIM:250100; metachromatic leukodystrophy, juvenile form, MONDO:0009591
29 Aug 2024	Hereditary neuropathy or pain disorder v5.12	APTX	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: APTX. Tag Q3_24_NHS_review tag was added to gene: APTX.
29 Aug 2024	Hereditary neuropathy or pain disorder v5.12	APTX	Sarah Leigh reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
29 Aug 2024	Hereditary neuropathy or pain disorder v5.12	APTX	Sarah Leigh Publications for gene: APTX were set to 11176957
29 Aug 2024	Hereditary neuropathy or pain disorder v5.11	APTX	Sarah Leigh Phenotypes for gene: APTX were changed from Hereditary Neuropathies; ATAXIA WITH OCULOMOTOR APRAXIA 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, OMIM:208920; ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MONDO:0008842
12 Aug 2024	Hereditary neuropathy or pain disorder v5.10	NDC1	Sarah Leigh Classified gene: NDC1 as Amber List (moderate evidence)
12 Aug 2024	Hereditary neuropathy or pain disorder v5.10	NDC1	Sarah Leigh Gene: ndc1 has been classified as Amber List (Moderate Evidence).
12 Aug 2024	Hereditary neuropathy or pain disorder v5.9	NDC1	Sarah Leigh Tag Q3_24_promote_green tag was added to gene: NDC1. Tag Q3_24_NHS_review tag was added to gene: NDC1. Tag Q3_24_MOI tag was added to gene: NDC1.
12 Aug 2024	Hereditary neuropathy or pain disorder v5.9	NDC1	Sarah Leigh reviewed gene: NDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
12 Aug 2024	Hereditary neuropathy or pain disorder v5.9	LRP12	Sarah Leigh Classified gene: LRP12 as Amber List (moderate evidence)
12 Aug 2024	Hereditary neuropathy or pain disorder v5.9	LRP12	Sarah Leigh Gene: lrp12 has been classified as Amber List (Moderate Evidence).
12 Aug 2024	Hereditary neuropathy or pain disorder v5.8	LRP12	Sarah Leigh changed review comment from: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, it can not be added to PanelApp at present.; to: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present.
12 Aug 2024	Hereditary neuropathy or pain disorder v5.8	LRP12	Sarah Leigh changed review comment from: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). ; to: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, it can not be added to PanelApp at present.
12 Aug 2024	Hereditary neuropathy or pain disorder v5.8	LRP12	Sarah Leigh changed review comment from: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).; to: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).
12 Aug 2024	Hereditary neuropathy or pain disorder v5.8	LRP12	Sarah Leigh reviewed gene: LRP12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
12 Aug 2024	Hereditary neuropathy or pain disorder v5.8	LRP12	Sarah Leigh Publications for gene: LRP12 were set to 39013564; 37339631; 31332380
12 Aug 2024	Hereditary neuropathy or pain disorder v5.7	LRP12	Sarah Leigh Phenotypes for gene: LRP12 were changed from Motor axonal neuropathy to Amyotrophic lateral sclerosis 28, OMIM:620452; amyotrophic lateral sclerosis 28, MONDO:0957538; Oculopharyngodistal myopathy 1, OMIM:164310; oculopharyngodistal myopathy 1, MONDO:0020793
12 Aug 2024	Hereditary neuropathy or pain disorder v5.6	LRP12	Sarah Leigh Publications for gene: LRP12 were set to 39013564; 37339631; 31332380
12 Aug 2024	Hereditary neuropathy or pain disorder v5.5	LRP12	Sarah Leigh Publications for gene: LRP12 were set to 39013564
12 Aug 2024	Hereditary neuropathy or pain disorder v5.4	LRP12	Sarah Leigh Tag STR tag was added to gene: LRP12.
12 Aug 2024	Hereditary neuropathy or pain disorder v5.4	LRP12	Sarah Leigh Entity copied from Hereditary neuropathy v1.482
12 Aug 2024	Hereditary neuropathy or pain disorder v5.4	LRP12	Sarah Leigh gene: LRP12 was added gene: LRP12 was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: LRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRP12 were set to 39013564 Phenotypes for gene: LRP12 were set to Motor axonal neuropathy
12 Aug 2024	Hereditary neuropathy or pain disorder v5.3	MYO9B	Sarah Leigh Entity copied from Hereditary neuropathy v1.482
12 Aug 2024	Hereditary neuropathy or pain disorder v5.3	MYO9B	Sarah Leigh gene: MYO9B was added gene: MYO9B was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: MYO9B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO9B were set to 36260368 Phenotypes for gene: MYO9B were set to CMT2 Penetrance for gene: MYO9B were set to Complete
12 Aug 2024	Hereditary neuropathy or pain disorder v5.2	NDC1	Sarah Leigh Entity copied from Hereditary neuropathy v1.482
12 Aug 2024	Hereditary neuropathy or pain disorder v5.2	NDC1	Sarah Leigh gene: NDC1 was added gene: NDC1 was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: NDC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDC1 were set to 39003500 Phenotypes for gene: NDC1 were set to demyelinating neuropathy; alacrima; achalasia Penetrance for gene: NDC1 were set to Complete
07 Aug 2024	Hereditary neuropathy or pain disorder v5.1		Eleanor Williams Panel version 5.0 has been signed off on 2024-08-07
07 Aug 2024	Hereditary neuropathy or pain disorder v5.0		Eleanor Williams promoted panel to version 5.0
29 Jul 2024	Hereditary neuropathy or pain disorder v4.11	MT-RNR1	Sarah Leigh Tag locus-type-rna-ribosomal tag was added to gene: MT-RNR1.
15 Jul 2024	Hereditary neuropathy or pain disorder v4.11	MT-TL1	Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
09 Jul 2024	Hereditary neuropathy or pain disorder v4.11	ARSA	Alexander Rossor edited their review of gene: ARSA: Added comment: Peripheral neuropathy is a well recognised feature of metachromatic leukodystrophy; Changed publications to: 31684987; Changed phenotypes to: Metachromatic leukodystrophy. Severe late infantile form with mental retardation and severe course. Regression before 30 months, adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
09 Jul 2024	Hereditary neuropathy or pain disorder v4.11	APTX	Alexander Rossor edited their review of gene: APTX: Added comment: APTX recessive variants are a well established cause of cerebellar ataxia and peripheral neuropathy; Changed rating: GREEN; Changed publications to: 11176957
13 May 2024	Hereditary neuropathy or pain disorder v4.11	RTN2	Sarah Leigh Tag Q2_24_NHS_review tag was added to gene: RTN2.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	SPTBN4	Sarah Leigh Tag Q2_24_promote_green was removed from gene: SPTBN4. Tag Q2_24_NHS_review was removed from gene: SPTBN4.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	ABHD12	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: ABHD12. Tag Q2_24_NHS_review tag was added to gene: ABHD12.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	AGXT	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: AGXT. Tag Q2_24_NHS_review tag was added to gene: AGXT.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	APOA1	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: APOA1. Tag Q2_24_NHS_review tag was added to gene: APOA1.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	B4GALNT1	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: B4GALNT1. Tag Q2_24_NHS_review tag was added to gene: B4GALNT1.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	BCKDHB	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: BCKDHB. Tag Q2_24_NHS_review tag was added to gene: BCKDHB.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	FXN	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: FXN. Tag Q2_24_NHS_review tag was added to gene: FXN.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	GALC	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: GALC. Tag Q2_24_NHS_review tag was added to gene: GALC.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	GBA2	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: GBA2. Tag Q2_24_NHS_review tag was added to gene: GBA2.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	IARS2	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: IARS2. Tag Q2_24_NHS_review tag was added to gene: IARS2.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	LYST	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: LYST. Tag Q2_24_NHS_review tag was added to gene: LYST.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	MMACHC	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: MMACHC. Tag Q2_24_NHS_review tag was added to gene: MMACHC.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	MTTP	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: MTTP. Tag Q2_24_NHS_review tag was added to gene: MTTP.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	NAGA	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: NAGA. Tag Q2_24_NHS_review tag was added to gene: NAGA.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	PDYN	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PDYN. Tag Q2_24_NHS_review tag was added to gene: PDYN.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	PEX10	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PEX10. Tag Q2_24_NHS_review tag was added to gene: PEX10.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	PEX7	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PEX7. Tag Q2_24_NHS_review tag was added to gene: PEX7.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	PLP1	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PLP1. Tag Q2_24_NHS_review tag was added to gene: PLP1.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	PMM2	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PMM2. Tag Q2_24_NHS_review tag was added to gene: PMM2.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	PNPLA6	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PNPLA6. Tag Q2_24_NHS_review tag was added to gene: PNPLA6.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	POLR3A	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: POLR3A. Tag Q2_24_NHS_review tag was added to gene: POLR3A.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	SACS	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: SACS. Tag Q2_24_NHS_review tag was added to gene: SACS.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	SCARB2	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: SCARB2. Tag Q2_24_NHS_review tag was added to gene: SCARB2.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	SLC25A19	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: SLC25A19. Tag Q2_24_NHS_review tag was added to gene: SLC25A19.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	SPTBN4	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: SPTBN4. Tag Q2_24_NHS_review tag was added to gene: SPTBN4.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	SURF1	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: SURF1. Tag Q2_24_NHS_review tag was added to gene: SURF1.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	TYMP	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: TYMP. Tag Q2_24_NHS_review tag was added to gene: TYMP.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	XK	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: XK. Tag Q2_24_NHS_review tag was added to gene: XK.
13 May 2024	Hereditary neuropathy or pain disorder v4.11	XK	Sarah Leigh reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: ; Publications: 8619554, 11261514; Phenotypes: McLeod syndrome, OMIM:300842; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
13 May 2024	Hereditary neuropathy or pain disorder v4.11	TYMP	Sarah Leigh reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: 14757860, 12177387, 9924029; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	SURF1	Sarah Leigh reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4K, OMIM:616684, Mitochondrial complex IV deficiency, nuclear type 1, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	SPTBN4	Sarah Leigh edited their review of gene: SPTBN4: Added comment: At least six SPTBN4 variants have been associated with OMIM:617519, which includes axonal and demyelinating peripheral neuropathy as one of the clinical features. Six SPTBN4 variants have been reported by PMID: 28540413;29861105 in five unrelated cases of OMIM:617519.; Changed rating: GREEN; Changed publications to: 28540413, 29861105; Changed phenotypes to: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	SLC25A19	Sarah Leigh reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), OMIM:613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	SCARB2	Sarah Leigh reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 4, with or without renal failure, OMIM:254900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	SACS	Sarah Leigh reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, OMIM:270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	POLR3A	Sarah Leigh reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wiedemann-Rautenstrauch syndrome, OMIM:264090, Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM:607694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	PNPLA6	Sarah Leigh reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Oliver-McFarlane syndrome, OMIM:275400, Spastic paraplegia 39, autosomal recessive, OMIM:612020, Boucher-Neuhauser syndrome, OMIM:215470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	PMM2	Sarah Leigh reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ia, OMIM:212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	PLP1	Sarah Leigh reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 2, X-linked, OMIM:312920, Pelizaeus-Merzbacher disease, OMIM:312080; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
13 May 2024	Hereditary neuropathy or pain disorder v4.11	PEX7	Sarah Leigh reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 9B, OMIM:14879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	PEX10	Sarah Leigh reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), OMIM:614870, Peroxisome biogenesis disorder 6B, OMIM:614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	PDYN	Sarah Leigh reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21035104; Phenotypes: Spinocerebellar ataxia 23, OMIM:610245; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 May 2024	Hereditary neuropathy or pain disorder v4.11	NAGA	Sarah Leigh reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8782044, 11251574; Phenotypes: Kanzaki disease, OMIM:609242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	MTTP	Sarah Leigh reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: ; Publications: 8361539, 10446076, 8111381; Phenotypes: Abetalipoproteinemia, OMIM:200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	MMACHC	Sarah Leigh reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: 17431913, 16311595, 19370762; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, OMIM:277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	LYST	Sarah Leigh reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: 9215680, 8896560, 9215679, 11857544; Phenotypes: Chediak-Higashi syndrome, OMIM:214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	IARS2	Sarah Leigh reviewed gene: IARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, OMIM:616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	GBA2	Sarah Leigh reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24252062, 23332917, 23332916; Phenotypes: Spastic paraplegia 46, autosomal recessive, OMIM:614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	GALC	Sarah Leigh reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20886637, 21070211; Phenotypes: Krabbe disease, OMIM:245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	FXN	Sarah Leigh reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21830088, 9737785, 8596916; Phenotypes: Friedreich ataxia, OMIM:229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	BCKDHB	Sarah Leigh reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 14742428, 2022752, 11509994; Phenotypes: Maple syrup urine disease, type Ib,OMIM:620698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	B4GALNT1	Sarah Leigh reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746551; Phenotypes: Spastic paraplegia 26, autosomal recessive, OMIM:609195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	APOA1	Sarah Leigh reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyloidosis, 3 or more types, OMIM:105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 May 2024	Hereditary neuropathy or pain disorder v4.11	AGXT	Sarah Leigh reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: ; Publications: 1961759, 10960483, 15464418; Phenotypes: Hyperoxaluria, primary, type 1, OMIM:259900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 May 2024	Hereditary neuropathy or pain disorder v4.11	ABHD12	Sarah Leigh reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: 20797687, 24697911; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, OMIM:612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 May 2024	Hereditary neuropathy or pain disorder v4.10	SLC12A6	Eleanor Williams Tag for-review was removed from gene: SLC12A6. Tag to_be_confirmed_NHSE was removed from gene: SLC12A6. Tag Q4_23_promote_green was removed from gene: SLC12A6. Tag Q4_23_NHS_review was removed from gene: SLC12A6.
08 May 2024	Hereditary neuropathy or pain disorder v4.10	DHX9	Eleanor Williams Tag gene-checked tag was added to gene: DHX9.
08 May 2024	Hereditary neuropathy or pain disorder v4.10	SLC12A6	Eleanor Williams commented on gene: SLC12A6
08 May 2024	Hereditary neuropathy or pain disorder v4.10	SLC12A6	Eleanor Williams Mode of inheritance for gene: SLC12A6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
07 May 2024	Hereditary neuropathy or pain disorder v4.9	SURF1	Sarah Leigh Publications for gene: SURF1 were set to
02 May 2024	Hereditary neuropathy or pain disorder v4.8	SPTBN4	Arina Puzriakova Phenotypes for gene: SPTBN4 were changed from Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519
02 May 2024	Hereditary neuropathy or pain disorder v4.7	SPTBN4	Arina Puzriakova Tag for-review was removed from gene: SPTBN4. Tag to_be_confirmed_NHSE was removed from gene: SPTBN4.
02 May 2024	Hereditary neuropathy or pain disorder v4.7	NEMF	Arina Puzriakova Phenotypes for gene: NEMF were changed from Hypotonia; Axonal neuropathy; Ataxia; Abnormal brain imaging; Global developmental delay; Intellectual disability; Kyphosis; Scoliosis; Tremor; Respiratory distress to Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, OMIM:619099
02 May 2024	Hereditary neuropathy or pain disorder v4.6	NEMF	Arina Puzriakova Tag watchlist was removed from gene: NEMF. Tag for-review was removed from gene: NEMF. Tag to_be_confirmed_NHSE was removed from gene: NEMF.
02 May 2024	Hereditary neuropathy or pain disorder v4.6	SYT2	Arina Puzriakova Tag Q3_23_promote_green was removed from gene: SYT2.
02 May 2024	Hereditary neuropathy or pain disorder v4.6	SPTAN1	Arina Puzriakova Tag Q3_23_promote_green was removed from gene: SPTAN1.
02 May 2024	Hereditary neuropathy or pain disorder v4.6	SARS	Arina Puzriakova Tag Q4_23_promote_green was removed from gene: SARS. Tag Q4_23_NHS_review was removed from gene: SARS.
02 May 2024	Hereditary neuropathy or pain disorder v4.6	PPOX	Arina Puzriakova Phenotypes for gene: PPOX were changed from Porphyria variegata, 176200; Skin photosensitivity. Acute episodes similar to AIP to Porphyria variegata, OMIM:176200; Sensory neuropathy, HP:0000763
02 May 2024	Hereditary neuropathy or pain disorder v4.5	PPOX	Arina Puzriakova Tag Q3_23_MOI was removed from gene: PPOX.
02 May 2024	Hereditary neuropathy or pain disorder v4.5	ITPR3	Arina Puzriakova Tag Q3_23_promote_green was removed from gene: ITPR3.
02 May 2024	Hereditary neuropathy or pain disorder v4.5	DNAJC3	Arina Puzriakova Phenotypes for gene: DNAJC3 were changed from Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus; Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 to Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192
02 May 2024	Hereditary neuropathy or pain disorder v4.4	DNAJC3	Arina Puzriakova Tag Q3_23_promote_green was removed from gene: DNAJC3.
02 May 2024	Hereditary neuropathy or pain disorder v4.4	DHX9	Arina Puzriakova Tag Q3_23_promote_green was removed from gene: DHX9.
02 May 2024	Hereditary neuropathy or pain disorder v4.4	DHTKD1	Arina Puzriakova Tag Q3_23_promote_green was removed from gene: DHTKD1.
02 May 2024	Hereditary neuropathy or pain disorder v4.4	AGTPBP1	Arina Puzriakova Phenotypes for gene: AGTPBP1 were changed from Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 to Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276
02 May 2024	Hereditary neuropathy or pain disorder v4.3	AGTPBP1	Arina Puzriakova Tag Q3_23_promote_green was removed from gene: AGTPBP1.
02 May 2024	Hereditary neuropathy or pain disorder v4.3	SPTBN4	Arina Puzriakova edited their review of gene: SPTBN4: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
02 May 2024	Hereditary neuropathy or pain disorder v4.3	NEMF	Arina Puzriakova edited their review of gene: NEMF: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 May 2024	Hereditary neuropathy or pain disorder v4.3	SYT2	Arina Puzriakova reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
02 May 2024	Hereditary neuropathy or pain disorder v4.3	SPTAN1	Arina Puzriakova reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
02 May 2024	Hereditary neuropathy or pain disorder v4.3	SLC12A6	Arina Puzriakova edited their review of gene: SLC12A6: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 May 2024	Hereditary neuropathy or pain disorder v4.3	SARS	Arina Puzriakova reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
02 May 2024	Hereditary neuropathy or pain disorder v4.3	PPOX	Arina Puzriakova reviewed gene: PPOX: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
02 May 2024	Hereditary neuropathy or pain disorder v4.3	ITPR3	Arina Puzriakova reviewed gene: ITPR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
02 May 2024	Hereditary neuropathy or pain disorder v4.3	DNAJC3	Arina Puzriakova reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 May 2024	Hereditary neuropathy or pain disorder v4.3	DHX9	Arina Puzriakova edited their review of gene: DHX9: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
02 May 2024	Hereditary neuropathy or pain disorder v4.3	DHTKD1	Arina Puzriakova reviewed gene: DHTKD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
02 May 2024	Hereditary neuropathy or pain disorder v4.3	AGTPBP1	Arina Puzriakova reviewed gene: AGTPBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 May 2024	Hereditary neuropathy or pain disorder v4.2	SYT2	Arina Puzriakova Source Expert Review Green was added to SYT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
02 May 2024	Hereditary neuropathy or pain disorder v4.2	SPTBN4	Arina Puzriakova Source NHS GMS was added to SPTBN4. Source Expert Review Green was added to SPTBN4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
02 May 2024	Hereditary neuropathy or pain disorder v4.2	SPTAN1	Arina Puzriakova Source NHS GMS was added to SPTAN1. Source Expert Review Green was added to SPTAN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
02 May 2024	Hereditary neuropathy or pain disorder v4.2	SLC12A6	Arina Puzriakova Source Expert Review Green was added to SLC12A6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
02 May 2024	Hereditary neuropathy or pain disorder v4.2	SARS	Arina Puzriakova Source NHS GMS was added to SARS. Source Expert Review Green was added to SARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
02 May 2024	Hereditary neuropathy or pain disorder v4.2	PPOX	Arina Puzriakova Mode of inheritance for gene PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
02 May 2024	Hereditary neuropathy or pain disorder v4.2	NEMF	Arina Puzriakova Source NHS GMS was added to NEMF. Source Expert Review Green was added to NEMF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
02 May 2024	Hereditary neuropathy or pain disorder v4.2	ITPR3	Arina Puzriakova Source NHS GMS was added to ITPR3. Source Expert Review Green was added to ITPR3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
02 May 2024	Hereditary neuropathy or pain disorder v4.2	DNAJC3	Arina Puzriakova Source Expert Review Green was added to DNAJC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
02 May 2024	Hereditary neuropathy or pain disorder v4.2	DHX9	Arina Puzriakova Source NHS GMS was added to DHX9. Source Expert Review Green was added to DHX9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
02 May 2024	Hereditary neuropathy or pain disorder v4.2	DHTKD1	Arina Puzriakova Source Expert Review Green was added to DHTKD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
02 May 2024	Hereditary neuropathy or pain disorder v4.2	AGTPBP1	Arina Puzriakova Source Expert Review Green was added to AGTPBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
01 May 2024	Hereditary neuropathy or pain disorder v4.1		Eleanor Williams Panel version 4.0 has been signed off on 2024-05-01
01 May 2024	Hereditary neuropathy or pain disorder v4.0		Eleanor Williams promoted panel to version 4.0
18 Apr 2024	Hereditary neuropathy or pain disorder v3.94	CADM3	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Ian Berry, there are now five unrelated families with peripheral neuropathy and with one of the two reported missense variants in heterozygous state. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Ian Berry, there are now at least nine probands with peripheral neuropathy and with one of the two reported missense variants in heterozygous state. Hence, this gene can be promoted to green rating in the next GMS update.
18 Apr 2024	Hereditary neuropathy or pain disorder v3.94	CADM3	Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: CADM3. Tag Q2_24_NHS_review tag was added to gene: CADM3.
18 Apr 2024	Hereditary neuropathy or pain disorder v3.94	CADM3	Achchuthan Shanmugasundram Classified gene: CADM3 as Amber List (moderate evidence)
18 Apr 2024	Hereditary neuropathy or pain disorder v3.94	CADM3	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Ian Berry, there are now five unrelated families with peripheral neuropathy and with one of the two reported missense variants in heterozygous state. Hence, this gene can be promoted to green rating in the next GMS update.
18 Apr 2024	Hereditary neuropathy or pain disorder v3.94	CADM3	Achchuthan Shanmugasundram Gene: cadm3 has been classified as Amber List (Moderate Evidence).
18 Apr 2024	Hereditary neuropathy or pain disorder v3.93	CADM3	Achchuthan Shanmugasundram Publications for gene: CADM3 were set to 33889941
18 Apr 2024	Hereditary neuropathy or pain disorder v3.92	CADM3	Achchuthan Shanmugasundram reviewed gene: CADM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Apr 2024	Hereditary neuropathy or pain disorder v3.92	GAN	Arina Puzriakova Publications for gene: GAN were set to 1106248
17 Apr 2024	Hereditary neuropathy or pain disorder v3.91	GAN	Arina Puzriakova Classified gene: GAN as Amber List (moderate evidence)
17 Apr 2024	Hereditary neuropathy or pain disorder v3.91	GAN	Arina Puzriakova Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update as the scope of this panel has now been expanded to include complex cases of neuropathy. Biallelic variants in the GAN gene cause giant axonal neuropathy. This childhood onset polyneuropathy results in progressive neurodegeneration of both the peripheral and central nervous systems. More than 10 unrelated cases have been reported in the literature which is sufficient for making this gene Green (PMIDs: 18595793; 19231187; 20949505; 27852232; 36866531)
17 Apr 2024	Hereditary neuropathy or pain disorder v3.91	GAN	Arina Puzriakova Gene: gan has been classified as Amber List (Moderate Evidence).
17 Apr 2024	Hereditary neuropathy or pain disorder v3.90	GAN	Arina Puzriakova Tag Q2_24_promote_green tag was added to gene: GAN. Tag Q2_24_NHS_review tag was added to gene: GAN.
17 Apr 2024	Hereditary neuropathy or pain disorder v3.90	GAN	Arina Puzriakova Phenotypes for gene: GAN were changed from Giant axonal neuropathy-1 to Giant axonal neuropathy-1, OMIM:256850
16 Apr 2024	Hereditary neuropathy or pain disorder v3.89	RTN2	Achchuthan Shanmugasundram changed review comment from: 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. Biallelic variants in RTN2 gene have not yet been associated with any phenotypes in OMIM or Gene2Phenotype, while monoallelic variants have been associated with spastic paraplegia (MIM #604805) in OMIM. Sources: Literature; to: 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. Biallelic variants in RTN2 gene have not yet been associated with any phenotypes in OMIM or Gene2Phenotype, while monoallelic variants have been associated with spastic paraplegia (MIM #604805) in OMIM. Sources: Literature
16 Apr 2024	Hereditary neuropathy or pain disorder v3.89	RTN2	Achchuthan Shanmugasundram changed review comment from: 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 (seven males and seven females, aged 9-50 years) 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. Biallelic variants in RTN2 gene have not yet been associated with any phenotypes in OMIM or Gene2Phenotype, while monoallelic variants have been associated with spastic paraplegia (MIM #604805) in OMIM. Sources: Literature; to: 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. Biallelic variants in RTN2 gene have not yet been associated with any phenotypes in OMIM or Gene2Phenotype, while monoallelic variants have been associated with spastic paraplegia (MIM #604805) in OMIM. Sources: Literature
16 Apr 2024	Hereditary neuropathy or pain disorder v3.89	RTN2	Achchuthan Shanmugasundram Classified gene: RTN2 as Amber List (moderate evidence)
16 Apr 2024	Hereditary neuropathy or pain disorder v3.89	RTN2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of RTN2 biallelic variants with distal hereditary motor neuropathy. Hence, this gene should be promoted to green rating in the next GMS update.
16 Apr 2024	Hereditary neuropathy or pain disorder v3.89	RTN2	Achchuthan Shanmugasundram Gene: rtn2 has been classified as Amber List (Moderate Evidence).
16 Apr 2024	Hereditary neuropathy or pain disorder v3.88	RTN2	Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: RTN2.
16 Apr 2024	Hereditary neuropathy or pain disorder v3.88	RTN2	Achchuthan Shanmugasundram gene: RTN2 was added gene: RTN2 was added to Hereditary neuropathy or pain disorder. 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 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 (seven males and seven females, aged 9-50 years) 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. Biallelic variants in RTN2 gene have not yet been associated with any phenotypes in OMIM or Gene2Phenotype, while monoallelic variants have been associated with spastic paraplegia (MIM #604805) in OMIM. Sources: Literature
15 Apr 2024	Hereditary neuropathy or pain disorder v3.87	CADM3	Ian Berry reviewed gene: CADM3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38074074, 33889941; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Apr 2024	Hereditary neuropathy or pain disorder v3.87	PDXK	Achchuthan Shanmugasundram Classified gene: PDXK as Amber List (moderate evidence)
11 Apr 2024	Hereditary neuropathy or pain disorder v3.87	PDXK	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases and functional studies) for the promotion of this gene to green rating in the next GMS update.
11 Apr 2024	Hereditary neuropathy or pain disorder v3.87	PDXK	Achchuthan Shanmugasundram Gene: pdxk has been classified as Amber List (Moderate Evidence).
11 Apr 2024	Hereditary neuropathy or pain disorder v3.86	PDXK	Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: PDXK.
11 Apr 2024	Hereditary neuropathy or pain disorder v3.86	PDXK	Achchuthan Shanmugasundram gene: PDXK was added gene: PDXK was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: PDXK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDXK were set to 31187503; 32522499 Phenotypes for gene: PDXK were set to Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy, OMIM:618511 Review for gene: PDXK was set to GREEN Added comment: PMID:31187503 - Five individuals from two unrelated families were reported with biallelic PDXK variants and with primary axonal polyneuropathy and optic atrophy. This association was also supported by results from cell-based functional assays. The biochemical profile can be rescued with PLP supplementation associated with clinical improvement. PMID:32522499 - Two affected siblings with a novel biallelic missense PDXK variant were reported with a similar phenotype as reported in PMID:31187503 with earlier onset. Functional analysis showed that this variant leads to almost complete loss of PDXK enzymatic activity and low PLP levels. This gene has been associated with relevant phenotypes in OMIM (MIM #618511), but not yet in Gene2Phenotype. Sources: Literature
11 Apr 2024	Hereditary neuropathy or pain disorder v3.84	SPG7	Sarah Leigh changed review comment from: SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive (OMIM:607259) and have a definitive association with the same condition on the Eye panel at Gen2Phen. Various phenotypic features are apparent in cases of OMIM:607259. Peripheral neuropathy has been reported in at least three cases (PMID: 35096021, in the review on this panel by Williams Kirsty), and optical neuropathy has been reported in many more cases (as mentioned in PMID:35243150).; to: SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive (OMIM:607259) and have a definitive association with the same condition on the Eye panel at Gen2Phen. Various phenotypic features are apparent in cases of OMIM:607259. Peripheral neuropathy has been reported in at least three cases (PMID: 35096021, in the review on this panel by Kirsty Williams), and optical neuropathy has been reported in many more cases (as mentioned in PMID:35243150).
19 Mar 2024	Hereditary neuropathy or pain disorder v3.83	SPG7	Sarah Leigh Tag Q1_24_promote_green tag was added to gene: SPG7. Tag Q1_24_NHS_review tag was added to gene: SPG7.
19 Mar 2024	Hereditary neuropathy or pain disorder v3.83	SPG7	Sarah Leigh edited their review of gene: SPG7: Added comment: SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive (OMIM:607259) and have a definitive association with the same condition on the Eye panel at Gen2Phen. Various phenotypic features are apparent in cases of OMIM:607259. Peripheral neuropathy has been reported in at least three cases (PMID: 35096021, in the review on this panel by Williams Kirsty), and optical neuropathy has been reported in many more cases (as mentioned in PMID:35243150).; Changed rating: GREEN; Changed publications to: 30098094, 35637455, 35096021, 35243150, 22964162
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	XK	Alexander Rossor commented on gene: XK: Should be included in R78 as now inlcudes many other complex phenotype genes that can present with neuropathy
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	TYMP	Alexander Rossor edited their review of gene: TYMP: Added comment: Can present with neuropathy and should be included in R78 panel; Changed publications to: 21933806
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	SURF1	Alexander Rossor edited their review of gene: SURF1: Added comment: Should be included as R78 now includes complex phenotype genes; Changed publications to: 27475922, 12026244, 24027061
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	SPTBN4	Alexander Rossor commented on gene: SPTBN4
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	SLC25A19	Alexander Rossor edited their review of gene: SLC25A19: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed phenotypes to: Acute encephalopathic episodes and paralysis following febrile illness with almost complete recovery. Absent sensory-motor action potential during illness. Bilateral striatal necrosis on MRI. Additional chronic progressive axonal neuropathy
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	SCARB2	Alexander Rossor edited their review of gene: SCARB2: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 21670406, 19597094
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	SACS	Alexander Rossor edited their review of gene: SACS: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 30460542
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	POLR3A	Alexander Rossor commented on gene: POLR3A: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	PNPLA6	Alexander Rossor commented on gene: PNPLA6: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	PMM2	Alexander Rossor edited their review of gene: PMM2: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed phenotypes to: Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy.
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	PLP1	Alexander Rossor edited their review of gene: PLP1: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 12601703
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	PEX7	Alexander Rossor edited their review of gene: PEX7: Added comment: Should be included in R78 as can present with neuropathy and other complex disease are now include in R78; Changed publications to: 11493716
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	PEX10	Alexander Rossor edited their review of gene: PEX10: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 27230853, 20695019
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	PDYN	Alexander Rossor commented on gene: PDYN: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	NAGA	Alexander Rossor commented on gene: NAGA: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	MTTP	Alexander Rossor commented on gene: MTTP: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	MMACHC	Alexander Rossor edited their review of gene: MMACHC: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed phenotypes to: Onset infancy to adulthood, thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12.
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	LYST	Alexander Rossor commented on gene: LYST: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	IARS2	Alexander Rossor edited their review of gene: IARS2: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 25130867, 28328135, 30041933, 30419932
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	GBA2	Alexander Rossor commented on gene: GBA2: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	BCKDHB	Alexander Rossor edited their review of gene: BCKDHB: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 18855118, 11180212; Changed phenotypes to: Maple Syrup Urine Disease, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropathy
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	B4GALNT1	Alexander Rossor commented on gene: B4GALNT1: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	APOA1	Alexander Rossor commented on gene: APOA1: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	AP1S1	Alexander Rossor Deleted their comment
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	AP1S1	Alexander Rossor commented on gene: AP1S1: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	AGXT	Alexander Rossor edited their review of gene: AGXT: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 4701948, 25363903
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	AGTPBP1	Alexander Rossor commented on gene: AGTPBP1: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	ABHD12	Alexander Rossor edited their review of gene: ABHD12: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 29571850, 20797687
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	GAN	Alexander Rossor commented on gene: GAN: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	FXN	Alexander Rossor edited their review of gene: FXN: Added comment: FA can present with a sensory neuropathy and should be included in the R78 panel. A missense may prompt testing for an expansion in the other allele.; Changed publications to: 20339857
17 Mar 2024	Hereditary neuropathy or pain disorder v3.83	GALC	Alexander Rossor edited their review of gene: GALC: Added comment: Can present with peripheral neuropathy and should be included in R78 panel; Changed publications to: 26840509; Changed phenotypes to: Krabbe. Spastic paraplegia, developmental delay, optic atrophy, adult onset has spastic paraplegia and sensory-motor axonal neuropathy with slow or normal conduction velocities, MRI shows leukodystrophy
01 Mar 2024	Hereditary neuropathy or pain disorder v3.83	SPG7	Williams Kirsty reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: sensory neuropathy, motor neuropathy, lower-limb neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
15 Feb 2024	Hereditary neuropathy or pain disorder v3.83	VWA1	Eleanor Williams Phenotypes for gene: VWA1 were changed from Neuropathy, hereditary motor, with myopathic features OMIM:619216; neuropathy, hereditary motor, with myopathic features MONDO:0030977 to Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216; neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977
31 Jan 2024	Hereditary neuropathy or pain disorder v3.82	GAN	Tracy Lester reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301315; Phenotypes: neuropathy, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Jan 2024	Hereditary neuropathy or pain disorder v3.82	HMBS	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available (three unrelated families) for the association of biallelic HMBS variants with peripheral neuropathy. Hence, the MOI should be updated from 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS review.
30 Jan 2024	Hereditary neuropathy or pain disorder v3.82	HMBS	Achchuthan Shanmugasundram Mode of inheritance for gene: HMBS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 Jan 2024	Hereditary neuropathy or pain disorder v3.81	HMBS	Achchuthan Shanmugasundram Phenotypes for gene: HMBS were changed from AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy; Porphyria, acute intermittent, 176000 to Porphyria, acute intermittent, OMIM:76000; Porphyria, acute intermittent, nonerythroid variant, OMIM:176000; Leukoencephalopathy, HP:0002352; hereditary peripheral neuropathy, MONDO:0020127
30 Jan 2024	Hereditary neuropathy or pain disorder v3.80	HMBS	Achchuthan Shanmugasundram edited their review of gene: HMBS: Changed phenotypes to: Porphyria, acute intermittent, OMIM:76000, Porphyria, acute intermittent, nonerythroid variant, OMIM:176000, Leukoencephalopathy, HP:0002352, hereditary peripheral neuropathy, MONDO:0020127
30 Jan 2024	Hereditary neuropathy or pain disorder v3.80	HMBS	Achchuthan Shanmugasundram Publications for gene: HMBS were set to
30 Jan 2024	Hereditary neuropathy or pain disorder v3.79	HMBS	Achchuthan Shanmugasundram Tag Q1_24_MOI tag was added to gene: HMBS.
30 Jan 2024	Hereditary neuropathy or pain disorder v3.79	HMBS	Achchuthan Shanmugasundram reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27558376, 34089223; Phenotypes: Leukoencephalopathy, HP:0002352, hereditary peripheral neuropathy, MONDO:0020127; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Jan 2024	Hereditary neuropathy or pain disorder v3.79	COQ7	Achchuthan Shanmugasundram Classified gene: COQ7 as Amber List (moderate evidence)
24 Jan 2024	Hereditary neuropathy or pain disorder v3.79	COQ7	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS review.
24 Jan 2024	Hereditary neuropathy or pain disorder v3.79	COQ7	Achchuthan Shanmugasundram Gene: coq7 has been classified as Amber List (Moderate Evidence).
24 Jan 2024	Hereditary neuropathy or pain disorder v3.78	COQ7	Achchuthan Shanmugasundram Phenotypes for gene: COQ7 were changed from autosomal recessive distal hereditary motor neuronopathy-9 (HMNR9) to Neuronopathy, distal hereditary motor, autosomal recessive 9, OMIM:620402
24 Jan 2024	Hereditary neuropathy or pain disorder v3.77	COQ7	Achchuthan Shanmugasundram Publications for gene: COQ7 were set to PMID: 36758993; 37077559
24 Jan 2024	Hereditary neuropathy or pain disorder v3.76	COQ7	Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: COQ7. Tag Q1_24_NHS_review tag was added to gene: COQ7.
24 Jan 2024	Hereditary neuropathy or pain disorder v3.76	COQ7	Achchuthan Shanmugasundram changed review comment from: PMID:36454683 reported three siblings of Portuguese decent with distal hereditary motor neuropathy and identified with a homozygous COQ7 variant that disrupted the start codon of the main COQ7 isoform 1 (c.3G-T). PMID:36758993 reported two unrelated males of Chinese decent, who developed slowly progressive distal muscle weakness and atrophy at 14 to 15 years of age. They were identified with compound heterozygous variants in COQ7 gene (family 1: c.253-2A-T/ p.Leu156Gln & c.467T-A/ p.Leu156Gln; family 2: c.160C-T/ p.Arg54Trp & c.467T-G/ p.Leu156Arg). PMID:3707755 reported three siblings of Syrian decent who presented with progressive distal limb muscle weakness and atrophy due to a length-dependent peripheral motor neuropathy. They were identified with a homozygous COQ7 variant (c.1A-G). This gene has been associated with relevant phenotype in OMIM (MIM #620402), but not in Gene2Phenotype.; to: PMID:36454683 reported three siblings of Portuguese decent with distal hereditary motor neuropathy and identified with a homozygous COQ7 variant that disrupted the start codon of the main COQ7 isoform 1 (c.3G-T). PMID:36758993 reported two unrelated males of Chinese decent, who developed slowly progressive distal muscle weakness and atrophy at 14 to 15 years of age. They were identified with compound heterozygous variants in COQ7 gene (family 1: c.253-2A-T/ p.Leu156Gln & c.467T-A/ p.Leu156Gln; family 2: c.160C-T/ p.Arg54Trp & c.467T-G/ p.Leu156Arg). PMID:37077559 reported three siblings of Syrian decent who presented with progressive distal limb muscle weakness and atrophy due to a length-dependent peripheral motor neuropathy. They were identified with a homozygous COQ7 variant (c.1A-G). This gene has been associated with relevant phenotype in OMIM (MIM #620402), but not in Gene2Phenotype.
24 Jan 2024	Hereditary neuropathy or pain disorder v3.76	COQ7	Achchuthan Shanmugasundram edited their review of gene: COQ7: Changed publications to: 36454683, 36758993, 37077559
24 Jan 2024	Hereditary neuropathy or pain disorder v3.76	COQ7	Achchuthan Shanmugasundram reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: 36454683, 36758993, 3707755; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 9, OMIM:620402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Jan 2024	Hereditary neuropathy or pain disorder v3.76	PRX	Arina Puzriakova Publications for gene: PRX were set to 11157804; 10848494
23 Jan 2024	Hereditary neuropathy or pain disorder v3.75	PRX	Arina Puzriakova Phenotypes for gene: PRX were changed from Dejerine Sottas disease, autosomal recessive, 145900; Charcot Marie Tooth disease, type 4F, 614895 to Charcot-Marie-Tooth disease, type 4F, OMIM:614895; Dejerine-Sottas disease, OMIM:145900
22 Jan 2024	Hereditary neuropathy or pain disorder v3.74	COQ7	Lucy Jackson edited their review of gene: COQ7: Changed publications to: 36758993, 37077559
22 Jan 2024	Hereditary neuropathy or pain disorder v3.74	COQ7	Lucy Jackson gene: COQ7 was added gene: COQ7 was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to PMID: 36758993; 37077559 Phenotypes for gene: COQ7 were set to autosomal recessive distal hereditary motor neuronopathy-9 (HMNR9) Review for gene: COQ7 was set to GREEN Added comment: This gene is associated with autosomal recessive distal hereditary motor neuronopathy-9 (HMNR9) Sources: NHS GMS
07 Jan 2024	Hereditary neuropathy or pain disorder v3.74	PDK3	Eleanor Williams changed review comment from: The rating of this gene has been updated togreenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
07 Jan 2024	Hereditary neuropathy or pain disorder v3.74	PCYT2	Achchuthan Shanmugasundram changed review comment from: PMID:35243002 reported two brothers with a novel homozygous missense variant in the first catalytic domain of PCYT2 (c.88T>G/ p.Cys30Gly). Although these two patients shared several phenotypic features with previously reported patients with syndromic spastic paraplegia including short stature, spastic tetraparesis, cerebellar ataxia, epilepsy, and cognitive decline, these were the first patients reported with axonal polyneuropathy.; to: PMID:35243002 reported two brothers with a novel homozygous missense variant in the first catalytic domain of PCYT2 (c.88T>G/ p.Cys30Gly). Although these two patients shared several phenotypic features with previously reported patients with syndromic spastic paraplegia including short stature, spastic tetraparesis, cerebellar ataxia, epilepsy, and cognitive decline, axonal polyneuropathy reported in these two brothers were not reported in any previous cases.
07 Jan 2024	Hereditary neuropathy or pain disorder v3.74	PCYT2	Achchuthan Shanmugasundram Phenotypes for gene: PCYT2 were changed from to Spastic paraplegia 82, autosomal recessive, OMIM:618770; axonal neuropathy, MONDO:0004183
07 Jan 2024	Hereditary neuropathy or pain disorder v3.73	PCYT2	Achchuthan Shanmugasundram Publications for gene: PCYT2 were set to PMID: 35243002
07 Jan 2024	Hereditary neuropathy or pain disorder v3.72	PCYT2	Achchuthan Shanmugasundram Classified gene: PCYT2 as Red List (low evidence)
07 Jan 2024	Hereditary neuropathy or pain disorder v3.72	PCYT2	Achchuthan Shanmugasundram Gene: pcyt2 has been classified as Red List (Low Evidence).
07 Jan 2024	Hereditary neuropathy or pain disorder v3.71	PCYT2	Achchuthan Shanmugasundram reviewed gene: PCYT2: Rating: RED; Mode of pathogenicity: None; Publications: 35243002; Phenotypes: Spastic paraplegia 82, autosomal recessive, OMIM:618770, axonal neuropathy, MONDO:0004183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jan 2024	Hereditary neuropathy or pain disorder v3.71	EMILIN1	Achchuthan Shanmugasundram Classified gene: EMILIN1 as Amber List (moderate evidence)
06 Jan 2024	Hereditary neuropathy or pain disorder v3.71	EMILIN1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are two unrelated families in support of the association of monoallelic EMILIN1 variants with peripheral neuropathy and hence this gene should be rated amber with current evidence.
06 Jan 2024	Hereditary neuropathy or pain disorder v3.71	EMILIN1	Achchuthan Shanmugasundram Gene: emilin1 has been classified as Amber List (Moderate Evidence).
05 Jan 2024	Hereditary neuropathy or pain disorder v3.70	EMILIN1	Achchuthan Shanmugasundram Phenotypes for gene: EMILIN1 were changed from Peripheral neuropathy; aortic aneurysm to Neuronopathy, distal hereditary motor, autosomal dominant 10, OMIM:620080
05 Jan 2024	Hereditary neuropathy or pain disorder v3.69	EMILIN1	Achchuthan Shanmugasundram reviewed gene: EMILIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal dominant 10, OMIM:620080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Jan 2024	Hereditary neuropathy or pain disorder v3.69	SLC12A6	Arina Puzriakova Phenotypes for gene: SLC12A6 were changed from Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum to Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068; Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
03 Jan 2024	Hereditary neuropathy or pain disorder v3.68	SLC12A6	Arina Puzriakova commented on gene: SLC12A6
03 Jan 2024	Hereditary neuropathy or pain disorder v3.68	SLC12A6	Arina Puzriakova Publications for gene: SLC12A6 were set to 12368912; 31439721; 27485015; 16606917; 17893295; 21628467
03 Jan 2024	Hereditary neuropathy or pain disorder v3.67	SLC12A6	Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: SLC12A6. Tag Q4_23_NHS_review tag was added to gene: SLC12A6.
27 Dec 2023	Hereditary neuropathy or pain disorder v3.67	SLC12A6	Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: SLC12A6.
14 Dec 2023	Hereditary neuropathy or pain disorder v3.67	PSMC3	Achchuthan Shanmugasundram Classified gene: PSMC3 as Amber List (moderate evidence)
14 Dec 2023	Hereditary neuropathy or pain disorder v3.67	PSMC3	Achchuthan Shanmugasundram Gene: psmc3 has been classified as Amber List (Moderate Evidence).
14 Dec 2023	Hereditary neuropathy or pain disorder v3.66	PSMC3	Achchuthan Shanmugasundram gene: PSMC3 was added gene: PSMC3 was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMC3 were set to 32500975 Phenotypes for gene: PSMC3 were set to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354 Review for gene: PSMC3 was set to AMBER Added comment: Three individuals from a single extended consanguineous Turkish pedigree was reported with early-onset and rapidly progressive deafness, early-onset cataract, severe developmental delay, severely impaired intellectual development, subcutaneous calcifications and peripheral neuropathy. They were identified with homozygous variant in PSMC3 gene (c.1127 + 337A>G). Functional studies in patient fibroblast cells suggested that the patient PSMC3 variant is responsible for proteasome failure affecting protein homeostasis under stress conditions. This is also supported by evidence from zebrafish models, where PSMC3 knockout has reproduced the human phenotype with inner ear development anomalies as well as cataracts. Sources: Literature
16 Nov 2023	Hereditary neuropathy or pain disorder v3.65	SARS	Achchuthan Shanmugasundram Classified gene: SARS as Amber List (moderate evidence)
16 Nov 2023	Hereditary neuropathy or pain disorder v3.65	SARS	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of SARS1 gene in this panel in the next GMS review.
16 Nov 2023	Hereditary neuropathy or pain disorder v3.65	SARS	Achchuthan Shanmugasundram Gene: sars has been classified as Amber List (Moderate Evidence).
16 Nov 2023	Hereditary neuropathy or pain disorder v3.64	SARS	Achchuthan Shanmugasundram Phenotypes for gene: SARS were changed from CMTi to hereditary peripheral neuropathy, MONDO:0020127
16 Nov 2023	Hereditary neuropathy or pain disorder v3.63	SARS	Achchuthan Shanmugasundram Publications for gene: SARS were set to 37706277,36088542
16 Nov 2023	Hereditary neuropathy or pain disorder v3.62	SARS	Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SARS. Tag Q4_23_promote_green tag was added to gene: SARS. Tag Q4_23_NHS_review tag was added to gene: SARS.
16 Nov 2023	Hereditary neuropathy or pain disorder v3.62	SARS	Achchuthan Shanmugasundram commented on gene: SARS: Added new-gene-name tag, new approved HGNC gene symbol for SARS is SARS1.
16 Nov 2023	Hereditary neuropathy or pain disorder v3.62	SARS	Achchuthan Shanmugasundram changed review comment from: PMID:36088542 - Two different heterozygous missense variants within the aminoacylation domain of SARS1 gene was identified in 16 affected individuals from three unrelated families with Charcot-Marie-Tooth (CMT) disease. The mutant SerRS proteins exhibited reduced aminoacylation activity and abnormal SerRS dimerization, which suggests the impairment of total protein synthesis and induction of eIF2α phosphorylation. PMID:37706277 - A female patient with demyelinating CMT was identified with a heterozygous variant in SARS1 gene. Biallelic variants in this gene have already been associated with relevant phenotypes in both OMIM (MIM #617709) and Gene2Phenotype, while monoallelic variants are associated with phenotype only in Gene2Phenotype (with 'limited' rating in the DD panel).; to: PMID:36088542 - Two different heterozygous missense variants within the aminoacylation domain of SARS1 gene was identified in 16 affected individuals from three unrelated families with Charcot-Marie-Tooth (CMT) disease. The mutant SerRS proteins exhibited reduced aminoacylation activity and abnormal SerRS dimerization, which suggests the impairment of total protein synthesis and induction of eIF2α phosphorylation. PMID:37706277 - A female patient with demyelinating CMT was identified with a heterozygous variant in SARS1 gene. Biallelic variants in this gene have already been associated with relevant phenotypes in both OMIM (MIM #617709) and Gene2Phenotype, while monoallelic variants are associated with phenotype only in Gene2Phenotype (with 'limited' rating in the DD panel).
16 Nov 2023	Hereditary neuropathy or pain disorder v3.62	SARS	Achchuthan Shanmugasundram reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 36088542, 37706277; Phenotypes: hereditary peripheral neuropathy, MONDO:0020127; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
09 Nov 2023	Hereditary neuropathy or pain disorder v3.62	SLC12A6	Christopher Record reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27485015, 36542484, 35733399, 31439721, 33323309; Phenotypes: CMT1, CMT2, CMTi, dHMN; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
09 Nov 2023	Hereditary neuropathy or pain disorder v3.62	SARS	Christopher Record gene: SARS was added gene: SARS was added to Hereditary neuropathy or pain disorder. Sources: Expert Review Mode of inheritance for gene: SARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SARS were set to 37706277,36088542 Phenotypes for gene: SARS were set to CMTi Penetrance for gene: SARS were set to Complete Review for gene: SARS was set to GREEN Added comment: Dominant or de novo dominant plausibly causing CMT in four unrelated families. Another amino-acyl tRNA synthetase causing CMT Sources: Expert Review
20 Oct 2023	Hereditary neuropathy or pain disorder v3.60	MT-ND6	Dmitrijs Rots gene: MT-ND6 was added gene: MT-ND6 was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL Publications for gene: MT-ND6 were set to PMID: 20301353 Phenotypes for gene: MT-ND6 were set to LHON; peripheral neuropathy Penetrance for gene: MT-ND6 were set to unknown Mode of pathogenicity for gene: MT-ND6 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MT-ND6 was set to GREEN Added comment: Gene is associated with LHON, but GeneReviews states: "Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with LHON than in the general population. ". Identified in our lab in a young patient with peripheral neuropathy phenotype only. Sources: Literature
18 Oct 2023	Hereditary neuropathy or pain disorder v3.60	MT-ATP6	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
16 Oct 2023	Hereditary neuropathy or pain disorder v3.60	DRP2	Eleanor Williams Tag gene-checked tag was added to gene: DRP2.
16 Oct 2023	Hereditary neuropathy or pain disorder v3.60	DRP2	Eleanor Williams commented on gene: DRP2
10 Oct 2023	Hereditary neuropathy or pain disorder v3.60	VCP	Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: VCP.
10 Oct 2023	Hereditary neuropathy or pain disorder v3.60	VAPB	Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: VAPB.
10 Oct 2023	Hereditary neuropathy or pain disorder v3.60	UBA1	Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: UBA1.
10 Oct 2023	Hereditary neuropathy or pain disorder v3.60	TECPR2	Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: TECPR2.
10 Oct 2023	Hereditary neuropathy or pain disorder v3.60	SLC25A46	Achchuthan Shanmugasundram Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, OMIM:616505; Pontocerebellar hypoplasia, type 1E, OMIM:619303, MONDO:0030260 to Neuropathy, hereditary motor and sensory, type VIB, OMIM:616505; Pontocerebellar hypoplasia, type 1E, OMIM:619303, MONDO:0030260
10 Oct 2023	Hereditary neuropathy or pain disorder v3.59	SLC25A46	Achchuthan Shanmugasundram Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303, MONDO:0030260 to Neuropathy, hereditary motor and sensory, type VIB, OMIM:616505; Pontocerebellar hypoplasia, type 1E, OMIM:619303, MONDO:0030260
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	SLC25A46	Achchuthan Shanmugasundram edited their review of gene: SLC25A46: Changed phenotypes to: Neuropathy, hereditary motor and sensory, type VIB, OMIM:616505, Pontocerebellar hypoplasia, type 1E, OMIM:619303, MONDO:0030260
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	SLC25A46	Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: SLC25A46.
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	SCO2	Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: SCO2.
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	MYH14	Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: MYH14.
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	MAG	Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: MAG.
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	GBF1	Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: GBF1.
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	DRP2	Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: DRP2.
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	COX20	Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: COX20.
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	ACOX1	Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: ACOX1.
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	VCP	Sarah Leigh reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	VAPB	Sarah Leigh reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	UBA1	Sarah Leigh reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	TECPR2	Sarah Leigh reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	SLC25A46	Sarah Leigh reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	SCO2	Sarah Leigh reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	MYH14	Sarah Leigh reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	MAG	Sarah Leigh reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	GBF1	Sarah Leigh reviewed gene: GBF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	DRP2	Sarah Leigh reviewed gene: DRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	COX20	Sarah Leigh reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
10 Oct 2023	Hereditary neuropathy or pain disorder v3.58	ACOX1	Sarah Leigh reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
10 Oct 2023	Hereditary neuropathy or pain disorder v3.57	VCP	Achchuthan Shanmugasundram Source Expert Review Green was added to VCP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
10 Oct 2023	Hereditary neuropathy or pain disorder v3.57	VAPB	Achchuthan Shanmugasundram Source Expert Review Green was added to VAPB. Source NHS GMS was added to VAPB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
10 Oct 2023	Hereditary neuropathy or pain disorder v3.57	UBA1	Achchuthan Shanmugasundram Source Expert Review Green was added to UBA1. Source NHS GMS was added to UBA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
10 Oct 2023	Hereditary neuropathy or pain disorder v3.57	TECPR2	Achchuthan Shanmugasundram Source Expert Review Green was added to TECPR2. Source NHS GMS was added to TECPR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
10 Oct 2023	Hereditary neuropathy or pain disorder v3.57	SLC25A46	Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A46. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
10 Oct 2023	Hereditary neuropathy or pain disorder v3.57	SCO2	Achchuthan Shanmugasundram Source Expert Review Green was added to SCO2. Source NHS GMS was added to SCO2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
10 Oct 2023	Hereditary neuropathy or pain disorder v3.57	MYH14	Achchuthan Shanmugasundram Source Expert Review Green was added to MYH14. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
10 Oct 2023	Hereditary neuropathy or pain disorder v3.57	MAG	Achchuthan Shanmugasundram Source Expert Review Green was added to MAG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
10 Oct 2023	Hereditary neuropathy or pain disorder v3.57	GBF1	Achchuthan Shanmugasundram Source Expert Review Green was added to GBF1. Source NHS GMS was added to GBF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
10 Oct 2023	Hereditary neuropathy or pain disorder v3.57	DRP2	Achchuthan Shanmugasundram Source Expert Review Green was added to DRP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
10 Oct 2023	Hereditary neuropathy or pain disorder v3.57	COX20	Achchuthan Shanmugasundram Source Expert Review Green was added to COX20. Source NHS GMS was added to COX20. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
10 Oct 2023	Hereditary neuropathy or pain disorder v3.57	ACOX1	Achchuthan Shanmugasundram Source Expert Review Green was added to ACOX1. Source NHS GMS was added to ACOX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
28 Sep 2023	Hereditary neuropathy or pain disorder v3.56	RFC1	Sarah Leigh reviewed gene: RFC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
12 Sep 2023	Hereditary neuropathy or pain disorder v3.56	VWA1	Sarah Leigh Tag STR tag was added to gene: VWA1.
12 Sep 2023	Hereditary neuropathy or pain disorder v3.56	MT-ATP6	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
23 Aug 2023	Hereditary neuropathy or pain disorder v3.56	SYT2	Achchuthan Shanmugasundram Classified gene: SYT2 as Amber List (moderate evidence)
23 Aug 2023	Hereditary neuropathy or pain disorder v3.56	SYT2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene to this panel (six unrelated cases and functional studies) and this gene should therefore be promoted to green rating in the next GMS review.
23 Aug 2023	Hereditary neuropathy or pain disorder v3.56	SYT2	Achchuthan Shanmugasundram Gene: syt2 has been classified as Amber List (Moderate Evidence).
23 Aug 2023	Hereditary neuropathy or pain disorder v3.55	SYT2	Achchuthan Shanmugasundram Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic to Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant, OMIM:616040
23 Aug 2023	Hereditary neuropathy or pain disorder v3.54	SYT2	Achchuthan Shanmugasundram Publications for gene: SYT2 were set to 26519543; 30533528
23 Aug 2023	Hereditary neuropathy or pain disorder v3.53	SYT2	Achchuthan Shanmugasundram Mode of inheritance for gene: SYT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Aug 2023	Hereditary neuropathy or pain disorder v3.52	SYT2	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SYT2.
23 Aug 2023	Hereditary neuropathy or pain disorder v3.52	SYT2	Achchuthan Shanmugasundram reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192047, 26519543, 30533528, 33105646, 34037996; Phenotypes: Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant, OMIM:616040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Aug 2023	Hereditary neuropathy or pain disorder v3.52	DHTKD1	Achchuthan Shanmugasundram Classified gene: DHTKD1 as Amber List (moderate evidence)
23 Aug 2023	Hereditary neuropathy or pain disorder v3.52	DHTKD1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
23 Aug 2023	Hereditary neuropathy or pain disorder v3.52	DHTKD1	Achchuthan Shanmugasundram Gene: dhtkd1 has been classified as Amber List (Moderate Evidence).
23 Aug 2023	Hereditary neuropathy or pain disorder v3.51	DHTKD1	Achchuthan Shanmugasundram Phenotypes for gene: DHTKD1 were changed from Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750 to ?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025
23 Aug 2023	Hereditary neuropathy or pain disorder v3.50	DHTKD1	Achchuthan Shanmugasundram Publications for gene: DHTKD1 were set to
23 Aug 2023	Hereditary neuropathy or pain disorder v3.49	DHTKD1	Achchuthan Shanmugasundram Mode of inheritance for gene: DHTKD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Aug 2023	Hereditary neuropathy or pain disorder v3.48	DHTKD1	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DHTKD1.
23 Aug 2023	Hereditary neuropathy or pain disorder v3.48	DHTKD1	Achchuthan Shanmugasundram reviewed gene: DHTKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23141294, 28902413, 29661920, 34571524; Phenotypes: ?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Aug 2023	Hereditary neuropathy or pain disorder v3.48	SPTAN1	Sarah Leigh Added comment: Comment on mode of inheritance: Three unrelated cases have been reported with biallelic SPTAN1 variants (PMID: 31515523 & 34526651) . Neuropathy or pain was not part of the complex phenotypes that was seen in these cases.
17 Aug 2023	Hereditary neuropathy or pain disorder v3.48	SPTAN1	Sarah Leigh Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
15 Aug 2023	Hereditary neuropathy or pain disorder v3.47	SPTAN1	Sarah Leigh Tag Q3_23_promote_green tag was added to gene: SPTAN1.
15 Aug 2023	Hereditary neuropathy or pain disorder v3.47	SPTAN1	Sarah Leigh edited their review of gene: SPTAN1: Added comment: SPTAN1 variants have been associated with Developmental and epileptic encephalopathy 5 (OMIM:613477) and as definitive Gen2Phen gene for the same condition.; Changed rating: GREEN
15 Aug 2023	Hereditary neuropathy or pain disorder v3.47	SPTAN1	Sarah Leigh Classified gene: SPTAN1 as Amber List (moderate evidence)
15 Aug 2023	Hereditary neuropathy or pain disorder v3.47	SPTAN1	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
15 Aug 2023	Hereditary neuropathy or pain disorder v3.47	SPTAN1	Sarah Leigh Gene: sptan1 has been classified as Amber List (Moderate Evidence).
15 Aug 2023	Hereditary neuropathy or pain disorder v3.46	SPTAN1	Sarah Leigh Phenotypes for gene: SPTAN1 were changed from Hereditary motor neuropathy to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
31 Jul 2023	Hereditary neuropathy or pain disorder v3.45	AGTPBP1	Achchuthan Shanmugasundram changed review comment from: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Five unrelated patients had (axonal) motor neuropathy. This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating).; to: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Five unrelated patients had (axonal) motor neuropathy. In addition, functional studies with mouse models have recapitulated the human phenotype. This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating).
31 Jul 2023	Hereditary neuropathy or pain disorder v3.45	AGTPBP1	Achchuthan Shanmugasundram Classified gene: AGTPBP1 as Amber List (moderate evidence)
31 Jul 2023	Hereditary neuropathy or pain disorder v3.45	AGTPBP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating at the next major review.
31 Jul 2023	Hereditary neuropathy or pain disorder v3.45	AGTPBP1	Achchuthan Shanmugasundram Gene: agtpbp1 has been classified as Amber List (Moderate Evidence).
31 Jul 2023	Hereditary neuropathy or pain disorder v3.44	AGTPBP1	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: AGTPBP1.
31 Jul 2023	Hereditary neuropathy or pain disorder v3.44	AGTPBP1	Achchuthan Shanmugasundram reviewed gene: AGTPBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30420557; Phenotypes: Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Jul 2023	Hereditary neuropathy or pain disorder v3.44	DHX9	Achchuthan Shanmugasundram Classified gene: DHX9 as Amber List (moderate evidence)
28 Jul 2023	Hereditary neuropathy or pain disorder v3.44	DHX9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases) for promoting this gene to green rating in the next major update.
28 Jul 2023	Hereditary neuropathy or pain disorder v3.44	DHX9	Achchuthan Shanmugasundram Gene: dhx9 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Hereditary neuropathy or pain disorder v3.43	DHX9	Achchuthan Shanmugasundram Tag watchlist was removed from gene: DHX9. Tag Q3_23_promote_green tag was added to gene: DHX9.
28 Jul 2023	Hereditary neuropathy or pain disorder v3.43	DHX9	Achchuthan Shanmugasundram Phenotypes for gene: DHX9 were changed from Adult-onset axonal neuropathy to Adult-onset axonal neuropathy; Charcot-Marie-Tooth disease, MONDO:0015626
28 Jul 2023	Hereditary neuropathy or pain disorder v3.42	DHX9	Achchuthan Shanmugasundram Publications for gene: DHX9 were set to
28 Jul 2023	Hereditary neuropathy or pain disorder v3.41	DHX9	Achchuthan Shanmugasundram Mode of inheritance for gene: DHX9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Jul 2023	Hereditary neuropathy or pain disorder v3.40	DHX9	Achchuthan Shanmugasundram reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: None; Publications: 37467750; Phenotypes: Charcot-Marie-Tooth disease, MONDO:0015626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Jul 2023	Hereditary neuropathy or pain disorder v3.40	DNAJC3	Achchuthan Shanmugasundram changed review comment from: PMID:25466870 - Five individuals from two different families with demyelinating sensorimotor peripheral neuropathy and identified with homozygous DNAJC3 variants (family 1: c.580C>T (p.Arg194Ter); family 2: 72kb del (exons 6-12)). PMID:28940199 - Cousin of family 1 from PMID:2546687 with the same variant and presented with demyelinating sensorimotor peripheral neuropathy. PMID:32738013 - Two unrelated cases with homozygous splice site variants (case 1: c.393+2T>G; case 2: c.393+2T>C) in DNAJC3 and were reported with sensorimotor demyelinating and axonal polyneuropathy. PMID:33486469 - Two unrelated patients identified with compound heterozygous (patient 1: p.Met1Val & p.Arg346Ter) or homozygous (p.Arg393Ter) variants, of which patient 1 had demyelinating peripheral sensorimotor neuropathy. PMID:34654017 - One of two siblings identified with homozygous DNAJC3 variant (c.367_1370delAGAA; p.Lys456SerfsTer85) presented with demyelinating neuropathy among several other clinical manifestations.; to: PMID:25466870 - Five individuals from two different families with demyelinating sensorimotor peripheral neuropathy and identified with homozygous DNAJC3 variants (family 1: c.580C>T (p.Arg194Ter); family 2: 72kb del (exons 6-12)). PMID:28940199 - Cousin of family 1 from PMID:2546687 with the same variant and presented with demyelinating sensorimotor peripheral neuropathy. PMID:32738013 - Two unrelated cases with homozygous splice site variants (case 1: c.393+2T>G; case 2: c.393+2T>C) in DNAJC3 and were reported with sensorimotor demyelinating and axonal polyneuropathy. PMID:33486469 - Two unrelated patients identified with compound heterozygous (patient 1: p.Met1Val & p.Arg346Ter) or homozygous (p.Arg393Ter) variants, of which patient 1 had demyelinating peripheral sensorimotor neuropathy. PMID:34654017 - One of two siblings identified with homozygous DNAJC3 variant (c.367_1370delAGAA; p.Lys456SerfsTer85) presented with demyelinating neuropathy.
28 Jul 2023	Hereditary neuropathy or pain disorder v3.40	DNAJC3	Achchuthan Shanmugasundram changed review comment from: PMID:25466870 - Five individuals from two different families with demyelinating sensorimotor peripheral neuropathy and identified with homozygous DNAJC3 variants (family 1: c.580C>T (p.Arg194Ter); family 2: 72kb del (exons 6-12)). PMID:28940199 - Cousin of family 1 from PMID:2546687 with the same variant and presented with demyelinating sensorimotor peripheral neuropathy. PMID:32738013 - Two unrelated cases with homozygous splice site variants (case 1: c.393+2T>G; case 2: c.393+2T>C) in DNAJC3 and were reported with sensorimotor demyelinating and axonal polyneuropathy among several clinical manifestations. PMID:33486469 - Two unrelated patients identified with compound heterozygous (patient 1: p.Met1Val & p.Arg346Ter) or homozygous (p.Arg393Ter) variants, of which patient 1 had demyelinating peripheral sensorimotor neuropathy. PMID:34654017 - One of two siblings identified with homozygous DNAJC3 variant (c.367_1370delAGAA; p.Lys456SerfsTer85) presented with demyelinating neuropathy among several other clinical manifestations.; to: PMID:25466870 - Five individuals from two different families with demyelinating sensorimotor peripheral neuropathy and identified with homozygous DNAJC3 variants (family 1: c.580C>T (p.Arg194Ter); family 2: 72kb del (exons 6-12)). PMID:28940199 - Cousin of family 1 from PMID:2546687 with the same variant and presented with demyelinating sensorimotor peripheral neuropathy. PMID:32738013 - Two unrelated cases with homozygous splice site variants (case 1: c.393+2T>G; case 2: c.393+2T>C) in DNAJC3 and were reported with sensorimotor demyelinating and axonal polyneuropathy. PMID:33486469 - Two unrelated patients identified with compound heterozygous (patient 1: p.Met1Val & p.Arg346Ter) or homozygous (p.Arg393Ter) variants, of which patient 1 had demyelinating peripheral sensorimotor neuropathy. PMID:34654017 - One of two siblings identified with homozygous DNAJC3 variant (c.367_1370delAGAA; p.Lys456SerfsTer85) presented with demyelinating neuropathy among several other clinical manifestations.
28 Jul 2023	Hereditary neuropathy or pain disorder v3.40	DNAJC3	Achchuthan Shanmugasundram edited their review of gene: DNAJC3: Changed publications to: 25466870, 28940199, 32738013, 33486469, 34654017
28 Jul 2023	Hereditary neuropathy or pain disorder v3.40	DNAJC3	Achchuthan Shanmugasundram Publications for gene: DNAJC3 were set to 25466870; 28940199; 32738013; 3348646934654017
28 Jul 2023	Hereditary neuropathy or pain disorder v3.39	DNAJC3	Achchuthan Shanmugasundram Classified gene: DNAJC3 as Amber List (moderate evidence)
28 Jul 2023	Hereditary neuropathy or pain disorder v3.39	DNAJC3	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families with DNAJC3 biallelic variants and presenting with demyelinating sensorimotor peripheral neuropathy. Hence, this gene can be promoted to Green at the next GMS review.
28 Jul 2023	Hereditary neuropathy or pain disorder v3.39	DNAJC3	Achchuthan Shanmugasundram Gene: dnajc3 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Hereditary neuropathy or pain disorder v3.38	DNAJC3	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DNAJC3.
28 Jul 2023	Hereditary neuropathy or pain disorder v3.38	DNAJC3	Achchuthan Shanmugasundram Publications for gene: DNAJC3 were set to 25466870
28 Jul 2023	Hereditary neuropathy or pain disorder v3.37	DNAJC3	Achchuthan Shanmugasundram reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466870, 28940199, 32738013, 3348646934654017; Phenotypes: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Jul 2023	Hereditary neuropathy or pain disorder v3.37	PPOX	Achchuthan Shanmugasundram Publications for gene: PPOX were set to
27 Jul 2023	Hereditary neuropathy or pain disorder v3.36	PPOX	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: Comment on mode of inheritance: There are at least three cases of variegate porphyria reported with biallelic variants in PPOX gene and sensory neuropathy. Hence, the MOI should be updated from "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" in the next GMS review.
27 Jul 2023	Hereditary neuropathy or pain disorder v3.36	PPOX	Achchuthan Shanmugasundram Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Jul 2023	Hereditary neuropathy or pain disorder v3.35	PPOX	Achchuthan Shanmugasundram Tag Q3_23_MOI tag was added to gene: PPOX.
27 Jul 2023	Hereditary neuropathy or pain disorder v3.35	PPOX	Achchuthan Shanmugasundram reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 8290408, 10870850, 11286631; Phenotypes: Porphyria variegata, OMIM:176200, Sensory neuropathy, HP:0000763; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Jun 2023	Hereditary neuropathy or pain disorder v3.35	ITPR3	Sarah Leigh Classified gene: ITPR3 as Amber List (moderate evidence)
20 Jun 2023	Hereditary neuropathy or pain disorder v3.35	ITPR3	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
20 Jun 2023	Hereditary neuropathy or pain disorder v3.35	ITPR3	Sarah Leigh Gene: itpr3 has been classified as Amber List (Moderate Evidence).
20 Jun 2023	Hereditary neuropathy or pain disorder v3.34	ITPR3	Sarah Leigh Tag Q3_23_promote_green tag was added to gene: ITPR3.
20 Jun 2023	Hereditary neuropathy or pain disorder v3.34	ITPR3	Sarah Leigh reviewed gene: ITPR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Jun 2023	Hereditary neuropathy or pain disorder v3.34	ITPR3	Sarah Leigh Phenotypes for gene: ITPR3 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, demyelinating, type 1J, OMIM:620111
20 Jun 2023	Hereditary neuropathy or pain disorder v3.33	ITPR3	Sarah Leigh Publications for gene: ITPR3 were set to 32949214
20 Jun 2023	Hereditary neuropathy or pain disorder v3.32	ITPR3	Sarah Leigh Classified gene: ITPR3 as Amber List (moderate evidence)
20 Jun 2023	Hereditary neuropathy or pain disorder v3.32	ITPR3	Sarah Leigh Gene: itpr3 has been classified as Amber List (Moderate Evidence).
22 May 2023	Hereditary neuropathy or pain disorder v3.31	NTRK1	Achchuthan Shanmugasundram changed review comment from: I agree with Zornitza Stark that it is a complex phenotype. However, neuropathy has been associated with the phenotype in sufficient number of cases and been reviewed by several expert reviewers. Hence, the rating should remain as Green. This gene has been associated with relevant phenotypes in both OMIM (MIM #256800) and Gene2Phenotype (with 'definitive' rating in DD and skin panels.; to: I agree with Zornitza Stark that it is a complex phenotype. However, neuropathy has been associated with the phenotype in sufficient number of cases and been reviewed by several expert reviewers. Hence, the rating should remain as Green. This gene has been associated with relevant phenotypes in both OMIM (MIM #256800) and Gene2Phenotype (with 'definitive' rating in DD and skin panels).
19 May 2023	Hereditary neuropathy or pain disorder v3.31	NTRK1	Achchuthan Shanmugasundram Phenotypes for gene: NTRK1 were changed from Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis to Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis, OMIM:256800
19 May 2023	Hereditary neuropathy or pain disorder v3.30	NTRK1	Achchuthan Shanmugasundram reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis, OMIM:256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 May 2023	Hereditary neuropathy or pain disorder v3.30	MYH14	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: MYH14.
18 May 2023	Hereditary neuropathy or pain disorder v3.30	MYH14	Achchuthan Shanmugasundram Classified gene: MYH14 as Amber List (moderate evidence)
18 May 2023	Hereditary neuropathy or pain disorder v3.30	MYH14	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four families reported with the same variant (p.Arg941Leu) and with supporting functional studies characterising this variant. As the reported cases came from both Korean and North American families, it is not likely to be a founder variant. Hence, this gene can be promoted to GREEN rating at the next GMS update.
18 May 2023	Hereditary neuropathy or pain disorder v3.30	MYH14	Achchuthan Shanmugasundram Gene: myh14 has been classified as Amber List (Moderate Evidence).
18 May 2023	Hereditary neuropathy or pain disorder v3.29	MYH14	Achchuthan Shanmugasundram Phenotypes for gene: MYH14 were changed from ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369
18 May 2023	Hereditary neuropathy or pain disorder v3.28	MYH14	Achchuthan Shanmugasundram Publications for gene: MYH14 were set to 30373780; 21480433; 27875632
18 May 2023	Hereditary neuropathy or pain disorder v3.27	MYH14	Achchuthan Shanmugasundram reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: None; Publications: 21480433, 27875632, 31231018, 35274842; Phenotypes: ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 May 2023	Hereditary neuropathy or pain disorder v3.27	RFC1	Sarah Leigh Phenotypes for gene: RFC1 were changed from Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575; cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, MONDO:0013809; chronic idiopathic axonal polyneuropathy; chronic polyneuropathy, MONDO:0003335 to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575; cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, MONDO:0044720
16 May 2023	Hereditary neuropathy or pain disorder v3.26	RFC1	Sarah Leigh Publications for gene: RFC1 were set to 30926972; 31824583; 32851396; 32582864; 33969391
15 May 2023	Hereditary neuropathy or pain disorder v3.25	RFC1	Joseph Shaw reviewed gene: RFC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35883251, 36250766, 36289003, 36524104, 36478048; Phenotypes: Neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
15 May 2023	Hereditary neuropathy or pain disorder v3.25		Eleanor Williams Panel version 3.24 has been signed off on 2023-05-15
15 May 2023	Hereditary neuropathy or pain disorder v3.24		Eleanor Williams Panel name changed from Hereditary neuropathy or pain disorder - NOT PMP22 copy number to Hereditary neuropathy or pain disorder
15 May 2023	Hereditary neuropathy or pain disorder v3.23		Eleanor Williams List of related panels changed from Hereditary neuropathy NOT PMP22 copy number; R78 to Hereditary neuropathy NOT PMP22 copy number; Hereditary neuropathy or pain disorder - NOT PMP22 copy number; R78
01 May 2023	Hereditary neuropathy or pain disorder v3.22	ARHGEF10	Achchuthan Shanmugasundram Publications for gene: ARHGEF10 were set to 14508709
01 May 2023	Hereditary neuropathy or pain disorder v3.21	ARHGEF10	Achchuthan Shanmugasundram reviewed gene: ARHGEF10: Rating: AMBER; Mode of pathogenicity: None; Publications: 14508709, 21719701, 25025039, 25275565; Phenotypes: ?Slowed nerve conduction velocity, AD, OMIM:608236; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 Apr 2023	Hereditary neuropathy or pain disorder v3.21	UBA1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: UBA1.
30 Apr 2023	Hereditary neuropathy or pain disorder v3.21	UBA1	Achchuthan Shanmugasundram Classified gene: UBA1 as Amber List (moderate evidence)
30 Apr 2023	Hereditary neuropathy or pain disorder v3.21	UBA1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least nine unrelated cases and supportive functional evidence) available for this gene to be promoted to GREEN at the next major review.
30 Apr 2023	Hereditary neuropathy or pain disorder v3.21	UBA1	Achchuthan Shanmugasundram Gene: uba1 has been classified as Amber List (Moderate Evidence).
30 Apr 2023	Hereditary neuropathy or pain disorder v3.20	UBA1	Achchuthan Shanmugasundram Phenotypes for gene: UBA1 were changed from Spinal muscular atrophy, X-linked 2, infantile MIM#301830 to Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830
30 Apr 2023	Hereditary neuropathy or pain disorder v3.19	UBA1	Achchuthan Shanmugasundram Publications for gene: UBA1 were set to 18179898
30 Apr 2023	Hereditary neuropathy or pain disorder v3.18	UBA1	Achchuthan Shanmugasundram changed review comment from: As reported in PMID:18179898 and reviewed in OMIM, X-linked spinal muscular atrophy-2 (SMAX2) is characterised by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures, known as arthrogryposis, associated with loss of anterior horn cells and infantile death. Variants in UBA1 gene ( p.Asn577Asn in three families, and p.Met539Ile and p.Ser547Gly in one family each) were identified in five of screened X-linked spinal muscular atrophy families. Additional unrelated cases with variants in UBA1 gene are reported in PMIDs: 23518311, 26028276, 31932168 & 32181232. This gene has been reported with relevant phenotypes in OMIM (MIM #301830).; to: As reported in PMID:18179898 and reviewed in OMIM, X-linked spinal muscular atrophy-2 (SMAX2) is characterised by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures, known as arthrogryposis, associated with loss of anterior horn cells and infantile death. Variants in UBA1 gene ( p.Asn577Asn in three families, and p.Met539Ile and p.Ser547Gly in one family each) were identified in five of screened X-linked spinal muscular atrophy families. Additional unrelated cases with variants in UBA1 gene are reported in PMIDs: 23518311, 26028276, 31932168 & 32181232. This gene has been reported with relevant phenotypes in OMIM (MIM #301830).
30 Apr 2023	Hereditary neuropathy or pain disorder v3.18	UBA1	Achchuthan Shanmugasundram edited their review of gene: UBA1: Changed publications to: 18179898, 23518311, 26028276, 27699224, 29034082, 31932168, 32181232
30 Apr 2023	Hereditary neuropathy or pain disorder v3.18	UBA1	Achchuthan Shanmugasundram reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 23518311, 26028276, 31932168, 32181232; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
30 Apr 2023	Hereditary neuropathy or pain disorder v3.18	VAPB	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: VAPB.
30 Apr 2023	Hereditary neuropathy or pain disorder v3.18	VAPB	Achchuthan Shanmugasundram Classified gene: VAPB as Amber List (moderate evidence)
30 Apr 2023	Hereditary neuropathy or pain disorder v3.18	VAPB	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases & functional studies from mouse models) for this gene to be promoted to GREEN at the next major review.
30 Apr 2023	Hereditary neuropathy or pain disorder v3.18	VAPB	Achchuthan Shanmugasundram Gene: vapb has been classified as Amber List (Moderate Evidence).
30 Apr 2023	Hereditary neuropathy or pain disorder v3.17	VAPB	Achchuthan Shanmugasundram Phenotypes for gene: VAPB were changed from Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA; Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980 to Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980; Amyotrophic lateral sclerosis 8, OMIM:608627
30 Apr 2023	Hereditary neuropathy or pain disorder v3.16	VAPB	Achchuthan Shanmugasundram Publications for gene: VAPB were set to 15372378; 32162544; 28993872; 28173107; 26566915
30 Apr 2023	Hereditary neuropathy or pain disorder v3.15	VAPB	Achchuthan Shanmugasundram reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372378, 20940299, 28173107, 28993872, 3216254; Phenotypes: Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980, Amyotrophic lateral sclerosis 8, OMIM:608627; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Apr 2023	Hereditary neuropathy or pain disorder v3.15	DRP2	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: DRP2.
26 Apr 2023	Hereditary neuropathy or pain disorder v3.15	DRP2	Achchuthan Shanmugasundram Classified gene: DRP2 as Amber List (moderate evidence)
26 Apr 2023	Hereditary neuropathy or pain disorder v3.15	DRP2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is sufficient evidence (3 unrelated cases and functional studies) for this gene to be promoted to GREEN at the next major review.
26 Apr 2023	Hereditary neuropathy or pain disorder v3.15	DRP2	Achchuthan Shanmugasundram Gene: drp2 has been classified as Amber List (Moderate Evidence).
26 Apr 2023	Hereditary neuropathy or pain disorder v3.14	DRP2	Achchuthan Shanmugasundram Publications for gene: DRP2 were set to 26227883; 29473052
26 Apr 2023	Hereditary neuropathy or pain disorder v3.13	DRP2	Achchuthan Shanmugasundram reviewed gene: DRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22764250, 26227883, 29473052, 31217940; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
16 Apr 2023	Hereditary neuropathy or pain disorder v3.13	GBF1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: GBF1.
16 Apr 2023	Hereditary neuropathy or pain disorder v3.13	GBF1	Achchuthan Shanmugasundram Phenotypes for gene: GBF1 were changed from Axonal Neuropathy to Charcot-Marie-Tooth disease, axonal, type 2GG, OMIM:606483
16 Apr 2023	Hereditary neuropathy or pain disorder v3.12	GBF1	Achchuthan Shanmugasundram Classified gene: GBF1 as Amber List (moderate evidence)
16 Apr 2023	Hereditary neuropathy or pain disorder v3.12	GBF1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics) and Dmitrijs Rots (RadboudUMC), this gene should be promoted to GREEN at the next major review as there are four unrelated families identified with monoallelic (2 de novo and 2 dominant) variants in GBF1 gene and reported with distal hereditary motor neuropathies (HMNs)/ axonal Charcot-Marie-Tooth neuropathy (CMT2).
16 Apr 2023	Hereditary neuropathy or pain disorder v3.12	GBF1	Achchuthan Shanmugasundram Gene: gbf1 has been classified as Amber List (Moderate Evidence).
16 Apr 2023	Hereditary neuropathy or pain disorder v3.11	GBF1	Achchuthan Shanmugasundram commented on gene: GBF1: GBF1 is associated with relevant phenotype (MIM #606483) in OMIM, but not in Gene2Phenotype.
16 Apr 2023	Hereditary neuropathy or pain disorder v3.11	GBF1	Achchuthan Shanmugasundram reviewed gene: GBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32937143; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2GG, OMIM:606483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2023	Hereditary neuropathy or pain disorder v3.11	NUDT2	Achchuthan Shanmugasundram reviewed gene: NUDT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27431290, 30059600, 33058507; Phenotypes: Intellectual developmental disorder with or without peripheral neuropathy, OMIM:619844; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Apr 2023	Hereditary neuropathy or pain disorder v3.11	SUCLA2	Arina Puzriakova Phenotypes for gene: SUCLA2 were changed from Leigh like syndrome, deafness, progressive dystonia, mild methylmaolic acidaemia; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
11 Apr 2023	Hereditary neuropathy or pain disorder v3.10	SPG7	Sarah Leigh Publications for gene: SPG7 were set to
11 Apr 2023	Hereditary neuropathy or pain disorder v3.9	SPG7	Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form) autosomal or pseudoautosomal; to: Associated with OMIM:607259 and as definitive Gen2Phen gene for the same condition. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form) autosomal or pseudoautosomal
11 Apr 2023	Hereditary neuropathy or pain disorder v3.9	SPG7	Sarah Leigh commented on gene: SPG7
11 Apr 2023	Hereditary neuropathy or pain disorder v3.9	SPG7	Sarah Leigh Mode of inheritance for gene: SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
11 Apr 2023	Hereditary neuropathy or pain disorder v3.8	IGHMBP2	Achchuthan Shanmugasundram Publications for gene: IGHMBP2 were set to 26392352; 34726235
11 Apr 2023	Hereditary neuropathy or pain disorder v3.7	SPG7	Sarah Leigh Phenotypes for gene: SPG7 were changed from Hereditary Neuropathies; Spastic paraplegia, optic atrophy, ataxia and sensory-motor axonal neuropathy in some patients to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
05 Apr 2023	Hereditary neuropathy or pain disorder v3.6	TDP1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Ian Berry (Leeds Genetics Laboratory), there are now three unrelated families reported in literature with Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) and identified with homozygous variant in TDP1 gene. However, all three families are of Arab descent (one family from Saudi Arabia and two families from Oman) and they presented with the same homozygous variant (p.His493Arg). This gene has been associated with phenotypes in OMIM (MIM #607250), but not in Gene2Phenotype.; to: As reviewed by Ian Berry (Leeds Genetics Laboratory), there are now three unrelated families reported in literature with Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) and identified with homozygous variant in TDP1 gene. However, all three families are of Arab descent (one family from Saudi Arabia and two families from Oman) and they presented with the same homozygous variant (p.His493Arg). There are a number of functional studies characterising the function of H493R variant in vitro (PMIDs:15920477, 17948061 & 31723605). This gene has been associated with phenotypes in OMIM (MIM #607250), but not in Gene2Phenotype.
05 Apr 2023	Hereditary neuropathy or pain disorder v3.6	TDP1	Achchuthan Shanmugasundram edited their review of gene: TDP1: Changed publications to: 12244316, 15920477, 17948061, 31182267, 31723605
05 Apr 2023	Hereditary neuropathy or pain disorder v3.6	TDP1	Achchuthan Shanmugasundram Classified gene: TDP1 as Amber List (moderate evidence)
05 Apr 2023	Hereditary neuropathy or pain disorder v3.6	TDP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene can now be promoted to AMBER as there are three unrelated cases. The "founder-effect" tag has been added as they are all of Middle Eastern descent and harboured the same homozygous variant. Hence, it cannot be promoted to green rating.
05 Apr 2023	Hereditary neuropathy or pain disorder v3.6	TDP1	Achchuthan Shanmugasundram Gene: tdp1 has been classified as Amber List (Moderate Evidence).
05 Apr 2023	Hereditary neuropathy or pain disorder v3.5	TDP1	Achchuthan Shanmugasundram Publications for gene: TDP1 were set to 12244316; 31182267
05 Apr 2023	Hereditary neuropathy or pain disorder v3.4	TDP1	Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: TDP1.
05 Apr 2023	Hereditary neuropathy or pain disorder v3.4	TDP1	Achchuthan Shanmugasundram Phenotypes for gene: TDP1 were changed from Hereditary Neuropathies to ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250
05 Apr 2023	Hereditary neuropathy or pain disorder v3.3	TDP1	Achchuthan Shanmugasundram Publications for gene: TDP1 were set to 12244316
05 Apr 2023	Hereditary neuropathy or pain disorder v3.2	TDP1	Achchuthan Shanmugasundram reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 12244316, 31182267; Phenotypes: ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Mar 2023	Hereditary neuropathy or pain disorder v3.2	TDP1	Ian Berry reviewed gene: TDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12244316, PMID: 31182267; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
22 Mar 2023	Hereditary neuropathy or pain disorder v3.1		Catherine Snow Panel version 3.0 has been signed off on 2023-03-22
22 Mar 2023	Hereditary neuropathy or pain disorder v3.0		Catherine Snow promoted panel to version 3.0
22 Mar 2023	Hereditary neuropathy or pain disorder v2.30		Eleanor Williams List of related panels changed from Hereditary neuropathy or pain disorder - NOT PMP22 copy number; Hereditary neuropathy NOT PMP22 copy number; R78 to Hereditary neuropathy NOT PMP22 copy number; R78
22 Mar 2023	Hereditary neuropathy or pain disorder v2.29		Sarah Leigh Panel name changed from Hereditary neuropathy NOT PMP22 copy number to Hereditary neuropathy or pain disorder - NOT PMP22 copy number List of related panels changed from R78; Hereditary neuropathy or pain disorder - NOT PMP22 copy number to Hereditary neuropathy or pain disorder - NOT PMP22 copy number; Hereditary neuropathy NOT PMP22 copy number; R78
14 Mar 2023	Hereditary neuropathy or pain disorder v2.28	SPAST	Sarah Leigh Phenotypes for gene: SPAST were changed from Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant; Spasticity to Spastic paraplegia 4, autosomal dominant, OMIM:182601; hereditary spastic paraplegia 4, MONDO:0008438
09 Mar 2023	Hereditary neuropathy or pain disorder v2.27	HARS	Achchuthan Shanmugasundram Phenotypes for gene: HARS were changed from Charcot-Marie-Tooth disease, axonal, type 2W, OMIM: 616625 to Charcot-Marie-Tooth disease, axonal, type 2W, OMIM:616625
09 Mar 2023	Hereditary neuropathy or pain disorder v2.26	HARS	Achchuthan Shanmugasundram Phenotypes for gene: HARS were changed from to Charcot-Marie-Tooth disease, axonal, type 2W, OMIM: 616625
04 Mar 2023	Hereditary neuropathy or pain disorder v2.25	SCO2	Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: SCO2.
04 Mar 2023	Hereditary neuropathy or pain disorder v2.25	SCO2	Achchuthan Shanmugasundram Classified gene: SCO2 as Amber List (moderate evidence)
04 Mar 2023	Hereditary neuropathy or pain disorder v2.25	SCO2	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are four unrelated cases identified with CMT type 4 (axonal polyneuropathy).
04 Mar 2023	Hereditary neuropathy or pain disorder v2.25	SCO2	Achchuthan Shanmugasundram Gene: sco2 has been classified as Amber List (Moderate Evidence).
04 Mar 2023	Hereditary neuropathy or pain disorder v2.24	SCO2	Achchuthan Shanmugasundram Publications for gene: SCO2 were set to 29351582
04 Mar 2023	Hereditary neuropathy or pain disorder v2.23	SCO2	Achchuthan Shanmugasundram Phenotypes for gene: SCO2 were changed from axonal Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease type 4, MONDO:0018995; Mitochondrial complex IV deficiency, nuclear type 2, OMIM:604377
04 Mar 2023	Hereditary neuropathy or pain disorder v2.22	SCO2	Achchuthan Shanmugasundram Deleted their comment
04 Mar 2023	Hereditary neuropathy or pain disorder v2.22	SCO2	Achchuthan Shanmugasundram edited their review of gene: SCO2: Changed rating: GREEN; Changed phenotypes to: Charcot-Marie-Tooth disease type 4, MONDO:0018995, Mitochondrial complex IV deficiency, nuclear type 2, OMIM:604377; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Mar 2023	Hereditary neuropathy or pain disorder v2.22	SCO2	Achchuthan Shanmugasundram commented on gene: SCO2: As reviewed by Zornitza Stark, PMID:29351582 reported two unrelated cases with compound heterozygous variants in SCO2 gene (p.Glu140Lys/ p.Pro169Thr and p.Asp135Gly/ p.Arg171Gln). These two patients presented with axonal polyneuropathy (Charcot-Marie-Tooth disease type 4). They developed predominantly motor neuropathy, survived infancy, and have not yet developed the cardiomyopathy that causes death in early infancy in previously reported patients associated with Mitochondrial complex IV deficiency, nuclear type 2 (MIM #604377). PMID:31844624 reported two siblings with homozygous missense variant in SCO2 gene (p.Arg255Trp) who presented with cerebellar ataxia, progressive peripheral axonal neuropathy and long survival. Similarly, homozygous variant p.Gly121Arg was identified in two brothers in PMID:35112411 and they were reported with axonal motor neuropathy like the other cases. Autosomal recessive variants in this gene have been associated with Mitochondrial complex IV deficiency, nuclear type 2 (MIM #604377) in OMIM and Gene2Phenotype, which primarily has a cardiac phenotype. The axonal neuropathy phenotype without cardiac presentation has not yet been recorded in these resources.
04 Mar 2023	Hereditary neuropathy or pain disorder v2.22	SCO2	Achchuthan Shanmugasundram reviewed gene: SCO2: Rating: ; Mode of pathogenicity: None; Publications: 29351582, 31844624, 35112411; Phenotypes: Charcot-Marie-Tooth disease type 4, MONDO:0018995, Mitochondrial complex IV deficiency, nuclear type 2 (MIM #604377).; Mode of inheritance: None
28 Feb 2023	Hereditary neuropathy or pain disorder v2.22	SMN1	Achchuthan Shanmugasundram Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy to Spinal muscular atrophy-3, OMIM:253400; Spinal muscular atrophy-4, OMIM:271150; Spinal muscular atrophy-2, OMIM:253550; Spinal muscular atrophy-1, OMIM:253300
27 Feb 2023	Hereditary neuropathy or pain disorder v2.21	MAG	Arina Puzriakova Entity copied from Hereditary spastic paraplegia - childhood onset v3.18
27 Feb 2023	Hereditary neuropathy or pain disorder v2.21	MAG	Arina Puzriakova gene: MAG was added gene: MAG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review Amber,Literature,Yorkshire and North East GLH,London North GLH Q1_23_promote_green tags were added to gene: MAG. Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAG were set to 24482476; 26179919; 31402626; 32629324; 32340215 Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, OMIM:616680
10 Feb 2023	Hereditary neuropathy or pain disorder v2.20	IGHMBP2	Achchuthan Shanmugasundram Publications for gene: IGHMBP2 were set to 26392352
02 Feb 2023	Hereditary neuropathy or pain disorder v2.19	ISCA-37436-Loss	Arina Puzriakova reviewed Region: ISCA-37436-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
02 Feb 2023	Hereditary neuropathy or pain disorder v2.19	ISCA-37436-Gain	Arina Puzriakova reviewed Region: ISCA-37436-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
02 Feb 2023	Hereditary neuropathy or pain disorder v2.19	ISCA-37436-Loss	Arina Puzriakova Region: ISCA-37436-Loss was added Region: ISCA-37436-Loss was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37436-Loss were set to 20301566
02 Feb 2023	Hereditary neuropathy or pain disorder v2.19	ISCA-37436-Gain	Arina Puzriakova Region: ISCA-37436-Gain was added Region: ISCA-37436-Gain was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37436-Gain were set to 20301384
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	SLC5A6	Mafalda Gomes Tag Q2_21_NHS_review was removed from gene: SLC5A6. Tag Q2_22_rating was removed from gene: SLC5A6.
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	SH3TC2	Mafalda Gomes Tag Q2_22_MOI was removed from gene: SH3TC2.
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	PDK3	Mafalda Gomes Tag Q1_22_rating was removed from gene: PDK3.
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	OPA1	Mafalda Gomes Tag Q2_22_rating was removed from gene: OPA1.
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	FIG4	Mafalda Gomes Tag Q3_21_MOI was removed from gene: FIG4.
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	CPOX	Mafalda Gomes Tag Q4_21_MOI was removed from gene: CPOX.
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	TFG	Mafalda Gomes Tag Q3_21_MOI was removed from gene: TFG. Tag Q3_21_expert_review was removed from gene: TFG.
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	KIF1A	Mafalda Gomes Tag Q3_21_MOI was removed from gene: KIF1A.
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	TFG	Eleanor Williams commented on gene: TFG
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	SLC5A6	Eleanor Williams reviewed gene: SLC5A6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	SH3TC2	Eleanor Williams commented on gene: SH3TC2
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	PDK3	Eleanor Williams reviewed gene: PDK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	OPA1	Eleanor Williams reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	KIF1A	Eleanor Williams commented on gene: KIF1A
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	FIG4	Eleanor Williams commented on gene: FIG4
01 Feb 2023	Hereditary neuropathy or pain disorder v2.18	CPOX	Eleanor Williams commented on gene: CPOX
01 Feb 2023	Hereditary neuropathy or pain disorder v2.17	TFG	Mafalda Gomes Mode of inheritance for gene TFG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 Feb 2023	Hereditary neuropathy or pain disorder v2.17	SLC5A6	Mafalda Gomes Source Expert Review Green was added to SLC5A6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
01 Feb 2023	Hereditary neuropathy or pain disorder v2.17	SH3TC2	Mafalda Gomes Mode of inheritance for gene SH3TC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 Feb 2023	Hereditary neuropathy or pain disorder v2.17	PDK3	Mafalda Gomes Source Expert Review Green was added to PDK3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
01 Feb 2023	Hereditary neuropathy or pain disorder v2.17	OPA1	Mafalda Gomes Source Expert Review Green was added to OPA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
01 Feb 2023	Hereditary neuropathy or pain disorder v2.17	KIF1A	Mafalda Gomes Mode of inheritance for gene KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 Feb 2023	Hereditary neuropathy or pain disorder v2.17	FIG4	Mafalda Gomes Mode of inheritance for gene FIG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 Feb 2023	Hereditary neuropathy or pain disorder v2.17	CPOX	Mafalda Gomes Mode of inheritance for gene CPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Jan 2023	Hereditary neuropathy or pain disorder v2.16	VCP	Mafalda Gomes Phenotypes for gene: VCP were changed from Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; 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, OMIM:616687
20 Jan 2023	Hereditary neuropathy or pain disorder v2.15	VCP	Mafalda Gomes Publications for gene: VCP were set to 26574898; 25878907; 25125609
20 Jan 2023	Hereditary neuropathy or pain disorder v2.14	VCP	Mafalda Gomes Tag Q1_23_promote_green tag was added to gene: VCP.
20 Jan 2023	Hereditary neuropathy or pain disorder v2.14	COX20	Mafalda Gomes Phenotypes for gene: COX20 were changed from Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 to Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054
20 Jan 2023	Hereditary neuropathy or pain disorder v2.13	COX20	Mafalda Gomes Phenotypes for gene: COX20 were changed from Neuropathy to Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054
20 Jan 2023	Hereditary neuropathy or pain disorder v2.12	COX20	Mafalda Gomes Publications for gene: COX20 were set to 33751098; 30656193; 24202787
20 Jan 2023	Hereditary neuropathy or pain disorder v2.11	COX20	Mafalda Gomes Publications for gene: COX20 were set to 33751098
20 Jan 2023	Hereditary neuropathy or pain disorder v2.10	COX20	Mafalda Gomes Tag Q1_23_promote_green tag was added to gene: COX20.
20 Jan 2023	Hereditary neuropathy or pain disorder v2.10	ACOX1	Mafalda Gomes Tag Q1_23_promote_green tag was added to gene: ACOX1.
20 Jan 2023	Hereditary neuropathy or pain disorder v2.10	TECPR2	Mafalda Gomes Tag Q1_23_promote_green tag was added to gene: TECPR2.
20 Jan 2023	Hereditary neuropathy or pain disorder v2.10	TECPR2	Mafalda Gomes Phenotypes for gene: TECPR2 were changed from Hereditary sensory and autonomic neuropathy to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031
20 Jan 2023	Hereditary neuropathy or pain disorder v2.9	TECPR2	Mafalda Gomes changed review comment from: Neuser et al. (2021) report 17 unrelated cases with a biallelic pathogenic variants in TECPR2. The study also includes 11 previously reported patients. The core manifestations in these individuals are global developmental delay/intellectual disability, muscular hypotonia, ataxia, hyporeflexia, respiratory infections, and central/nocturnal hypopnea. Peripheral neuropathy was present in two-thirds of all individuals. The majority of the pathogenic variants identified are truncating variants; however, missense variants were also found, predominantly located in the N-terminal and C-terminal regions. The TECPR2 gene is implicated in the autophagy pathway, which is critical to the development and function of the central nervous system. Loss?of?function variants in several genes of the autophagy pathway lead to both neurodevelopmental and neurodegenerative diseases. In summary, this gene should be promoted to GREEN in this panel, with autosomal recessive mode of inheritance.; to: Neuser et al. (2021) report 17 unrelated cases with a biallelic pathogenic variants in TECPR2. The study also includes 11 previously reported patients. The core manifestations in these individuals are global developmental delay/intellectual disability, muscular hypotonia, ataxia, hyporeflexia, respiratory infections, and central/nocturnal hypopnea. Peripheral neuropathy was present in two-thirds of all individuals. The majority of the pathogenic variants identified are truncating variants; however, missense variants were also found, predominantly located in the N-terminal and C-terminal regions. The TECPR2 gene is implicated in the autophagy pathway, which is critical to the development and function of the central nervous system. Loss of function variants in several genes of the autophagy pathway lead to both neurodevelopmental and neurodegenerative diseases. In summary, this gene should be promoted to GREEN in this panel, with autosomal recessive mode of inheritance.
20 Jan 2023	Hereditary neuropathy or pain disorder v2.9	VCP	Mafalda Gomes reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: ; Publications: 25125609, 32165109, 25878907; Phenotypes: Charcot-Marie-Tooth disease, type 2Y, OMIM:616687; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Jan 2023	Hereditary neuropathy or pain disorder v2.9	TECPR2	Mafalda Gomes reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33847017; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Jan 2023	Hereditary neuropathy or pain disorder v2.9	COX20	Mafalda Gomes reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: 30656193, 33751098, 24202787; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Jan 2023	Hereditary neuropathy or pain disorder v2.9	ACOX1	Mafalda Gomes reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32169171; Phenotypes: Mitchell syndrome, OMIM:618960; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Jan 2023	Hereditary neuropathy or pain disorder v2.8	VCP	Mafalda Gomes Mode of inheritance for gene VCP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Jan 2023	Hereditary neuropathy or pain disorder v2.8	TECPR2	Mafalda Gomes Source Expert Review Amber was added to TECPR2. Rating Changed from No List (delete) to Amber List (moderate evidence)
20 Jan 2023	Hereditary neuropathy or pain disorder v2.8	COX20	Mafalda Gomes Source Expert Review Amber was added to COX20. Rating Changed from No List (delete) to Amber List (moderate evidence)
20 Jan 2023	Hereditary neuropathy or pain disorder v2.8	ACOX1	Mafalda Gomes Source Expert Review Amber was added to ACOX1. Mode of inheritance for gene ACOX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from No List (delete) to Amber List (moderate evidence)
08 Jan 2023	Hereditary neuropathy or pain disorder v2.7	MYH14	Dmitrijs Rots reviewed gene: MYH14: Rating: GREEN; 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: 31231018; Phenotypes: Neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Dec 2022	Hereditary neuropathy or pain disorder v2.7	SLC52A2	Achchuthan Shanmugasundram Tag treatable tag was added to gene: SLC52A2.
11 Dec 2022	Hereditary neuropathy or pain disorder v2.7	SLC52A2	Achchuthan Shanmugasundram Phenotypes for gene: SLC52A2 were changed from to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867; Hereditary sensory and autonomic neuropathy, MONDO:0015364
11 Dec 2022	Hereditary neuropathy or pain disorder v2.6	SLC52A2	Achchuthan Shanmugasundram Publications for gene: SLC52A2 were set to BVVL; Brown-Vialetto-Van Laere syndrome 2
11 Dec 2022	Hereditary neuropathy or pain disorder v2.5	SLC52A2	Achchuthan Shanmugasundram reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22740598, 22864630, 23243084, 24253200, 30343981, 30377535, 31868069, 32909658, 35608644, 36186484; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867, Hereditary sensory and autonomic neuropathy, MONDO:0015364, Progressive bulbar palsy, MONDO:0008890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Dec 2022	Hereditary neuropathy or pain disorder v2.5	SLC25A46	Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: SLC25A46.
11 Dec 2022	Hereditary neuropathy or pain disorder v2.5	SLC25A46	Achchuthan Shanmugasundram Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, 616505; Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303, MONDO:0030260
11 Dec 2022	Hereditary neuropathy or pain disorder v2.4	SLC25A46	Achchuthan Shanmugasundram Publications for gene: SLC25A46 were set to 26168012
11 Dec 2022	Hereditary neuropathy or pain disorder v2.3	SLC25A46	Achchuthan Shanmugasundram reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 26168012, 27430653, 28376086, 28934388, 30178502; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303, MONDO:0030260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
09 Dec 2022	Hereditary neuropathy or pain disorder v2.3	CADM3	Arina Puzriakova Classified gene: CADM3 as Amber List (moderate evidence)
09 Dec 2022	Hereditary neuropathy or pain disorder v2.3	CADM3	Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). To date only one paper reports three families with the same missense variant in CADM3. A separate report and/or another variant causing disease would help corroborate this association and so rating Amber for now with a 'watchlist' tag.
09 Dec 2022	Hereditary neuropathy or pain disorder v2.3	CADM3	Arina Puzriakova Gene: cadm3 has been classified as Amber List (Moderate Evidence).
09 Dec 2022	Hereditary neuropathy or pain disorder v2.2	CADM3	Arina Puzriakova Tag watchlist tag was added to gene: CADM3.
09 Dec 2022	Hereditary neuropathy or pain disorder v2.2	CADM3	Arina Puzriakova Phenotypes for gene: CADM3 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2FF, OMIM:619519
30 Nov 2022	Hereditary neuropathy or pain disorder v2.1		Eleanor Williams Panel version 2.0 has been signed off on 2022-11-30
30 Nov 2022	Hereditary neuropathy or pain disorder v2.0		Eleanor Williams promoted panel to version 2.0
30 Nov 2022	Hereditary neuropathy or pain disorder v1.106		Eleanor Williams List of related panels changed from R78; Hereditary neuropathy or pain disorder – NOT PMP22 copy number to R78; Hereditary neuropathy or pain disorder - NOT PMP22 copy number
24 Nov 2022	Hereditary neuropathy or pain disorder v1.105	ARHGEF10	Dmitrijs Rots reviewed gene: ARHGEF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
21 Nov 2022	Hereditary neuropathy or pain disorder v1.105	FAM126A	Eleanor Williams commented on gene: FAM126A
21 Nov 2022	Hereditary neuropathy or pain disorder v1.105	FAM126A	Eleanor Williams Tag new-gene-name tag was added to gene: FAM126A.
03 Nov 2022	Hereditary neuropathy or pain disorder v1.105	HK1	Arina Puzriakova Phenotypes for gene: HK1 were changed from Neuropathy, hereditary motor and sensory, Russe type, 605285; Hemolytic anemia due to hexokinase deficiency, 235700 to Neuropathy, hereditary motor and sensory, Russe type, OMIM:605285
25 Oct 2022	Hereditary neuropathy or pain disorder v1.104	FBLN5	Arina Puzriakova Phenotypes for gene: FBLN5 were changed from to Charcot-Marie-Tooth disease, demyelinating, type 1H, OMIM:619764; Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895
03 Aug 2022	Hereditary neuropathy or pain disorder v1.103	KIF1A	Arina Puzriakova Tag Q3_21_expert_review was removed from gene: KIF1A.
19 May 2022	Hereditary neuropathy or pain disorder v1.103	SLC5A6	Sarah Leigh edited their review of gene: SLC5A6: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least 6 variants have been reported in at least 4 unrelated cases. Supportive functional studies and targeted therapeutic interventionyielded clinical improvement in four of the five patients (PMID: 35013551).; Changed rating: GREEN; Changed publications to: 35013551; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 May 2022	Hereditary neuropathy or pain disorder v1.103	SLC5A6	Sarah Leigh Tag Q2_21_NHS_review tag was added to gene: SLC5A6. Tag Q2_22_rating tag was added to gene: SLC5A6.
19 May 2022	Hereditary neuropathy or pain disorder v1.103	SLC5A6	Sarah Leigh Classified gene: SLC5A6 as Amber List (moderate evidence)
19 May 2022	Hereditary neuropathy or pain disorder v1.103	SLC5A6	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
19 May 2022	Hereditary neuropathy or pain disorder v1.103	SLC5A6	Sarah Leigh Gene: slc5a6 has been classified as Amber List (Moderate Evidence).
19 May 2022	Hereditary neuropathy or pain disorder v1.102	SLC5A6	Sarah Leigh Publications for gene: SLC5A6 were set to PMID: 35013551
10 May 2022	Hereditary neuropathy or pain disorder v1.101	TAZ	Arina Puzriakova commented on gene: TAZ
10 May 2022	Hereditary neuropathy or pain disorder v1.101	TAZ	Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
10 May 2022	Hereditary neuropathy or pain disorder v1.101	MARS	Arina Puzriakova commented on gene: MARS
10 May 2022	Hereditary neuropathy or pain disorder v1.101	MARS	Arina Puzriakova Tag new-gene-name tag was added to gene: MARS.
08 May 2022	Hereditary neuropathy or pain disorder v1.101	MT-ATP6	Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
07 May 2022	Hereditary neuropathy or pain disorder v1.101	C1orf194	Eleanor Williams Tag new-gene-name tag was added to gene: C1orf194.
07 May 2022	Hereditary neuropathy or pain disorder v1.101	C1orf194	Eleanor Williams commented on gene: C1orf194
07 May 2022	Hereditary neuropathy or pain disorder v1.101	C1orf194	Eleanor Williams Tag gene-checked tag was added to gene: C1orf194.
19 Apr 2022	Hereditary neuropathy or pain disorder v1.101	SH3TC2	Sarah Leigh Phenotypes for gene: SH3TC2 were changed from Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353 to Charcot-Marie-Tooth disease, type 4C, OMIM:601596; Mononeuropathy of the median nerve, mild, OMIM:613353
19 Apr 2022	Hereditary neuropathy or pain disorder v1.100	SH3TC2	Sarah Leigh Tag Q2_22_MOI tag was added to gene: SH3TC2.
19 Apr 2022	Hereditary neuropathy or pain disorder v1.100	SH3TC2	Sarah Leigh reviewed gene: SH3TC2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C, OMIM:601596, Mononeuropathy of the median nerve, mild, OMIM:613353; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
19 Apr 2022	Hereditary neuropathy or pain disorder v1.100	SETX	Sarah Leigh edited their review of gene: SETX: Changed phenotypes to: Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Apr 2022	Hereditary neuropathy or pain disorder v1.100	SETX	Sarah Leigh Added comment: Comment on phenotypes: SETX variants are also associated with Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433, but this condition is not relevant to this narrow panel.
19 Apr 2022	Hereditary neuropathy or pain disorder v1.100	SETX	Sarah Leigh Phenotypes for gene: SETX were changed from to Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002
19 Apr 2022	Hereditary neuropathy or pain disorder v1.99	SETX	Sarah Leigh Added comment: Comment on publications: PMID: 25025039 - a likely pathogenic variant in SETX reported in a sporadic case with CMT2 and spasticity. Found with a REEP1 variant, and the authors assume digenic pathogenicity.;PMID:25802885 - Identifiy one previously reported variant and three novel variants in 4 families. Report the variants found in CMT patients are likely nonpathogenic due to bioinformatics analysis. Report SETX c.7640T>C is a nonpathogenic rare variant
19 Apr 2022	Hereditary neuropathy or pain disorder v1.99	SETX	Sarah Leigh Publications for gene: SETX were set to PMID: 25025039 - a likely pathogenic variant in SETX reported in a sporadic case with CMT2 and spasticity. Found with a REEP1 variant, and the authors assume digenic pathogenicity.; PMID:25802885 - Identifiy one previously reported variant and three novel variants in 4 families. Report the variants found in CMT patients are likely nonpathogenic due to bioinformatics analysis. Report SETX c.7640T>C is a nonpathogenic rare variant
13 Apr 2022	Hereditary neuropathy or pain disorder v1.98	OPA1	Arina Puzriakova Publications for gene: OPA1 were set to
13 Apr 2022	Hereditary neuropathy or pain disorder v1.97	OPA1	Arina Puzriakova Classified gene: OPA1 as Amber List (moderate evidence)
13 Apr 2022	Hereditary neuropathy or pain disorder v1.97	OPA1	Arina Puzriakova Added comment: Comment on list classification: It has now been agreed that all genes causing neuropathy as a key feature of a phenotype, even if in the context of other syndromic symptoms, should be included on this panel to minimise the risk of missing cases. For this reason it would now be appropriate to rate this gene as Green on R78.
13 Apr 2022	Hereditary neuropathy or pain disorder v1.97	OPA1	Arina Puzriakova Gene: opa1 has been classified as Amber List (Moderate Evidence).
13 Apr 2022	Hereditary neuropathy or pain disorder v1.96	OPA1	Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'monoallelic' only to 'both mono- and biallelic'. Biallelic variants cause Behr syndrome (MIM# 210000) which is also associated with axonal sensorimotor peripheral neuropathy (PMID: 20157015; 25012220; 25146916). Sufficient cases have been reported to rate as green for both inheritance patterns.
13 Apr 2022	Hereditary neuropathy or pain disorder v1.96	OPA1	Arina Puzriakova Mode of inheritance for gene: OPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
13 Apr 2022	Hereditary neuropathy or pain disorder v1.95	OPA1	Arina Puzriakova Tag Q2_22_rating tag was added to gene: OPA1.
13 Apr 2022	Hereditary neuropathy or pain disorder v1.95	OPA1	Arina Puzriakova Phenotypes for gene: OPA1 were changed from Optic atrophy 1, 165500; Optic neuropathy, PEO, deafness, myelopathy, sensory-motor axonal neuropathy; Optic atrophy plus syndrome, 125250 to Optic atrophy plus syndrome, OMIM:125250; Behr syndrome, OMIM:210000
12 Apr 2022	Hereditary neuropathy or pain disorder v1.94	MFN2	Arina Puzriakova Phenotypes for gene: MFN2 were changed from Charcot Marie Tooth disease, type 2A2, 609260; Charcot-Marie-Tooth, Type 2 (Dominant); Hereditary motor and sensory neuropathy VI, 601152; MFN2 axonal neuropathy; Hereditary Motor and Sensory Neuropathy (Recessive) to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087; Hereditary motor and sensory neuropathy VIA, OMIM:601152
06 Apr 2022	Hereditary neuropathy or pain disorder v1.93	SLC5A6	Arina Puzriakova Phenotypes for gene: SLC5A6 were changed from motor neuropathy to Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973
05 Apr 2022	Hereditary neuropathy or pain disorder v1.92	GDAP1	Arina Puzriakova Mode of inheritance for gene: GDAP1 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
05 Apr 2022	Hereditary neuropathy or pain disorder v1.91	GDAP1	Arina Puzriakova Phenotypes for gene: GDAP1 were changed from Charcot Marie Tooth disease, recessive intermediate, A, 608340; Charcot-Marie-Tooth with Vocal Cord Paresis (recessive); Charcot Marie Tooth disease, type 4A, 214400; Charcot Marie Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth, Intermediate (Dominant) to Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706; Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340; Charcot-Marie-Tooth disease, type 4A, OMIM:214400
05 Apr 2022	Hereditary neuropathy or pain disorder v1.90	ELP1	Arina Puzriakova Phenotypes for gene: ELP1 were changed from Dysautonomia, familial, 223900 to Dysautonomia, familial, OMIM:223900
28 Mar 2022	Hereditary neuropathy or pain disorder v1.89	WNK1	Arina Puzriakova Phenotypes for gene: WNK1 were changed from Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492 to Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300
19 Mar 2022	Hereditary neuropathy or pain disorder v1.88	PCYT2	Dmitrijs Rots gene: PCYT2 was added gene: PCYT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to PMID: 35243002 Review for gene: PCYT2 was set to AMBER Added comment: Two brother with axonal neuropathy reported in PMID: 35243002. In the same study, after reviewing previously published cases, other individuals (2/10) had sensory deficit / neuropathy: "Of 5 previously reported adult patients (age range of 20–59 years),2-6 nerve conduction studies were performed in 2 of them and reported as normal.3,4 Clinically, one of them had hypopallesthesia of the ankles,4 and the other had loss of vibration sense in the lower limbs and mild loss of proprioception in the feet". Sources: Literature
15 Mar 2022	Hereditary neuropathy or pain disorder v1.88	SLC12A6	Sarah Leigh commented on gene: SLC12A6: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
15 Mar 2022	Hereditary neuropathy or pain disorder v1.88	SPTBN4	Sarah Leigh commented on gene: SPTBN4
15 Mar 2022	Hereditary neuropathy or pain disorder v1.88	NEMF	Sarah Leigh commented on gene: NEMF
15 Mar 2022	Hereditary neuropathy or pain disorder v1.88	AR_CAG	Ivone Leong commented on STR: AR_CAG
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	VWA1	Ivone Leong Tag Q3_21_rating was removed from gene: VWA1. Tag Q3_21_NHS_review was removed from gene: VWA1.
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	POLR3B	Ivone Leong Tag Q2_21_rating was removed from gene: POLR3B.
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	PIGB	Ivone Leong Tag Q3_21_rating was removed from gene: PIGB.
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	HEXB	Ivone Leong Tag Q4_21_rating was removed from gene: HEXB.
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	HEXA	Ivone Leong Tag Q4_21_rating was removed from gene: HEXA.
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	MME	Ivone Leong Tag Q4_21_expert_review was removed from gene: MME. Tag Q4_21_MOI was removed from gene: MME. Tag Q4_21_NHS_review was removed from gene: MME.
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	GSN	Ivone Leong Tag Q3_21_rating was removed from gene: GSN.
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	C1orf194	Ivone Leong Tag Q3_21_rating was removed from gene: C1orf194. Tag Q3_21_NHS_review was removed from gene: C1orf194.
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	VWA1	Sarah Leigh commented on gene: VWA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	POLR3B	Sarah Leigh commented on gene: POLR3B
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	PIGB	Sarah Leigh commented on gene: PIGB
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	MME	Sarah Leigh commented on gene: MME
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	HEXB	Sarah Leigh commented on gene: HEXB
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	HEXA	Sarah Leigh commented on gene: HEXA
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	GSN	Sarah Leigh commented on gene: GSN
14 Mar 2022	Hereditary neuropathy or pain disorder v1.88	C1orf194	Sarah Leigh commented on gene: C1orf194: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
14 Mar 2022	Hereditary neuropathy or pain disorder v1.87	VWA1	Ivone Leong Source Expert Review Green was added to VWA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
14 Mar 2022	Hereditary neuropathy or pain disorder v1.87	POLR3B	Ivone Leong Source Expert Review Green was added to POLR3B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
14 Mar 2022	Hereditary neuropathy or pain disorder v1.87	PIGB	Ivone Leong Source Expert Review Green was added to PIGB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
14 Mar 2022	Hereditary neuropathy or pain disorder v1.87	MME	Ivone Leong Mode of inheritance for gene MME was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
14 Mar 2022	Hereditary neuropathy or pain disorder v1.87	HEXB	Ivone Leong Source Expert Review Green was added to HEXB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
14 Mar 2022	Hereditary neuropathy or pain disorder v1.87	HEXA	Ivone Leong Source Expert Review Green was added to HEXA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
14 Mar 2022	Hereditary neuropathy or pain disorder v1.87	GSN	Ivone Leong Source Expert Review Green was added to GSN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
14 Mar 2022	Hereditary neuropathy or pain disorder v1.87	C1orf194	Ivone Leong Source Expert Review Green was added to C1orf194. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
10 Mar 2022	Hereditary neuropathy or pain disorder v1.84	AR_CAG	Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35. Source NHS GMS was added to STR: AR_CAG.
03 Mar 2022	Hereditary neuropathy or pain disorder v1.83	SLC12A6	Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: SLC12A6.
03 Mar 2022	Hereditary neuropathy or pain disorder v1.83	SPTBN4	Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: SPTBN4.
03 Mar 2022	Hereditary neuropathy or pain disorder v1.83	NEMF	Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: NEMF.
03 Mar 2022	Hereditary neuropathy or pain disorder v1.83	SORD	Sarah Leigh Tag for-review was removed from gene: SORD. Tag Q3_21_NHS_review was removed from gene: SORD.
03 Mar 2022	Hereditary neuropathy or pain disorder v1.83	PNKP	Sarah Leigh Tag for-review was removed from gene: PNKP.
03 Mar 2022	Hereditary neuropathy or pain disorder v1.83	SORD	Sarah Leigh commented on gene: SORD: NHS Genomic Medicine Service consideration - coverage and variant calling will be compromised by pseudogene issue.
03 Mar 2022	Hereditary neuropathy or pain disorder v1.83	PNKP	Sarah Leigh commented on gene: PNKP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
03 Mar 2022	Hereditary neuropathy or pain disorder v1.83	SORD	Sarah Leigh commented on gene: SORD
03 Mar 2022	Hereditary neuropathy or pain disorder v1.82	PNKP	Sarah Leigh Source Expert Review Green was added to PNKP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
03 Mar 2022	Hereditary neuropathy or pain disorder v1.82	SORD	Sarah Leigh Source Expert Review Green was added to SORD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
14 Feb 2022	Hereditary neuropathy or pain disorder v1.81	TWNK	Arina Puzriakova Mode of inheritance for gene: TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
03 Feb 2022	Hereditary neuropathy or pain disorder v1.80	SLC12A6	Sarah Leigh edited their review of gene: SLC12A6: Added comment: In reviewing SLC12A6 on the Intellectual disabily panel, it was suggested that this gene should be green on this panel (source NHS Genomic Medicine Service).; Changed rating: GREEN
03 Feb 2022	Hereditary neuropathy or pain disorder v1.80	SLC12A6	Sarah Leigh Tag Q1_22_rating tag was added to gene: SLC12A6.
14 Jan 2022	Hereditary neuropathy or pain disorder v1.80	SLC5A6	Ian Berry gene: SLC5A6 was added gene: SLC5A6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to PMID: 35013551 Phenotypes for gene: SLC5A6 were set to motor neuropathy Penetrance for gene: SLC5A6 were set to Complete Review for gene: SLC5A6 was set to GREEN Added comment: Five individuals reported including three siblings with identical genotypes. Targeted therapy with biotin (therapeutic in other manifestations of this gene and in other biotin transporter deficiencies) improved phenotype in patients. Sources: NHS GMS
05 Jan 2022	Hereditary neuropathy or pain disorder v1.80	PDK3	Arina Puzriakova edited their review of gene: PDK3: Changed rating: GREEN
05 Jan 2022	Hereditary neuropathy or pain disorder v1.80	PDK3	Arina Puzriakova Publications for gene: PDK3 were set to 26801680; 23297365
05 Jan 2022	Hereditary neuropathy or pain disorder v1.79	PDK3	Arina Puzriakova Tag Q1_22_rating tag was added to gene: PDK3.
05 Jan 2022	Hereditary neuropathy or pain disorder v1.79	PDK3	Arina Puzriakova Classified gene: PDK3 as Amber List (moderate evidence)
05 Jan 2022	Hereditary neuropathy or pain disorder v1.79	PDK3	Arina Puzriakova Added comment: Comment on list classification: At least two variants in three unrelated families reported (founder effect ruled out), as well as functional analyses conducted in patient fibroblasts, cell lines, and animal model. This supports a rating upgrade on this panel from Amber to Green at the next GMS panel update (tagged).
05 Jan 2022	Hereditary neuropathy or pain disorder v1.79	PDK3	Arina Puzriakova Gene: pdk3 has been classified as Amber List (Moderate Evidence).
05 Jan 2022	Hereditary neuropathy or pain disorder v1.78	PDK3	Arina Puzriakova reviewed gene: PDK3: Rating: ; Mode of pathogenicity: None; Publications: 34387338; Phenotypes: Charcot-Marie-Tooth disease, X-linked dominant, 6, OMIM:300905; Mode of inheritance: None
14 Dec 2021	Hereditary neuropathy or pain disorder v1.78	MME	Arina Puzriakova Tag Q4_21_expert_review tag was added to gene: MME.
14 Dec 2021	Hereditary neuropathy or pain disorder v1.78	MME	Arina Puzriakova Added comment: Comment on mode of inheritance: Heterozygous variants have been identified in >10 individuals with late-onset CMT2T. However, some variants have been found in control databases and family studies indicate incomplete penetrance, suggesting heterozygous variants only confer susceptibility. Nonetheless, sufficient cases have been reported in literature and both MOIs are listed in OMIM for this phenotype, and so inclusion of monoallelic inheritance on this panel will first be flagged for GMS review.
14 Dec 2021	Hereditary neuropathy or pain disorder v1.78	MME	Arina Puzriakova Mode of inheritance for gene: MME was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
14 Dec 2021	Hereditary neuropathy or pain disorder v1.77	MME	Arina Puzriakova Tag adult-onset tag was added to gene: MME. Tag Q4_21_MOI tag was added to gene: MME.
14 Dec 2021	Hereditary neuropathy or pain disorder v1.77	MME	Arina Puzriakova Publications for gene: MME were set to 26991897; 27588448
14 Dec 2021	Hereditary neuropathy or pain disorder v1.76	MME	Arina Puzriakova Phenotypes for gene: MME were changed from Charcot-Marie-Tooth disease, axonal, type 2T, 617017 to Charcot-Marie-Tooth disease, axonal, type 2T, OMIM:617017
14 Dec 2021	Hereditary neuropathy or pain disorder v1.75	MME	Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: MME.
13 Dec 2021	Hereditary neuropathy or pain disorder v1.75	C1orf194	Arina Puzriakova Tag Q3_21_rating tag was added to gene: C1orf194.
13 Dec 2021	Hereditary neuropathy or pain disorder v1.75	HEXB	Arina Puzriakova Tag Q4_21_rating tag was added to gene: HEXB.
13 Dec 2021	Hereditary neuropathy or pain disorder v1.75	HEXB	Arina Puzriakova Publications for gene: HEXB were set to 17015493; 20472204; 20798201; 2795083; 31512525; 34856081
13 Dec 2021	Hereditary neuropathy or pain disorder v1.74	HEXB	Arina Puzriakova Publications for gene: HEXB were set to PMID: 31512525
13 Dec 2021	Hereditary neuropathy or pain disorder v1.73	HEXB	Arina Puzriakova Classified gene: HEXB as Amber List (moderate evidence)
13 Dec 2021	Hereditary neuropathy or pain disorder v1.73	HEXB	Arina Puzriakova Added comment: Comment on list classification: Neuropathy has been described in Sandhoff disease, particularly in adult-onset cases where this can be an initial finding and other symptoms may be more mild. Sufficient unrelated cases of neuropathy due to variants in this gene have been reported in literature (>3). Overall HEXB should be promoted to Green at the next GMS panel update.
13 Dec 2021	Hereditary neuropathy or pain disorder v1.73	HEXB	Arina Puzriakova Gene: hexb has been classified as Amber List (Moderate Evidence).
13 Dec 2021	Hereditary neuropathy or pain disorder v1.72	HEXB	Arina Puzriakova Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
13 Dec 2021	Hereditary neuropathy or pain disorder v1.71	HEXA	Arina Puzriakova Publications for gene: HEXA were set to PMID: 28739864; 18642377
13 Dec 2021	Hereditary neuropathy or pain disorder v1.70	HEXA	Arina Puzriakova Tag Q4_21_rating tag was added to gene: HEXA.
13 Dec 2021	Hereditary neuropathy or pain disorder v1.70	HEXA	Arina Puzriakova Classified gene: HEXA as Amber List (moderate evidence)
13 Dec 2021	Hereditary neuropathy or pain disorder v1.70	HEXA	Arina Puzriakova Added comment: Comment on list classification: Neuronopathy and peripheral neuropathy have been described in Tay-Sachs disease, particularly in adult-onset cases where this can be an initial finding and other symptoms may be more mild. Sufficient unrelated cases of neuropathy due to variants in this gene have been reported in literature (>3). Overall HEXA should be promoted to Green at the next GMS panel update.
13 Dec 2021	Hereditary neuropathy or pain disorder v1.70	HEXA	Arina Puzriakova Gene: hexa has been classified as Amber List (Moderate Evidence).
13 Dec 2021	Hereditary neuropathy or pain disorder v1.69	HEXA	Arina Puzriakova Phenotypes for gene: HEXA were changed from to Tay-Sachs disease, OMIM:272800; Late-onset Tay-Sachs disease
09 Dec 2021	Hereditary neuropathy or pain disorder v1.68	MME	Lindsey Vialard reviewed gene: MME: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27588448, 33144514; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
07 Dec 2021	Hereditary neuropathy or pain disorder v1.68	RFC1	Eleanor Williams commented on gene: RFC1: Copied this gene from the Hereditary ataxia - adult onset panel so that it is noted that the STR associated with this gene is relevant to the panel, NOT SNV/indels or deletions covering this gene. In PMID: 33969391 - Curro et al 2021 - they found that 43 patients (34%) with sensory neuropathy had biallelic AAGGG repeat expansions in RFC1and in none with sensory-motor neuropathy.
07 Dec 2021	Hereditary neuropathy or pain disorder v1.68	RFC1	Eleanor Williams Entity copied from Hereditary ataxia - adult onset v2.134
07 Dec 2021	Hereditary neuropathy or pain disorder v1.68	RFC1	Eleanor Williams gene: RFC1 was added gene: RFC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Red,Expert Review STR tags were added to gene: RFC1. Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFC1 were set to 30926972; 31824583; 32851396; 32582864; 33969391 Phenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575; cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, MONDO:0013809; chronic idiopathic axonal polyneuropathy; chronic polyneuropathy, MONDO:0003335 Mode of pathogenicity for gene: RFC1 was set to Other
30 Nov 2021	Hereditary neuropathy or pain disorder v1.67	HEXB	Dmitrijs Rots reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20472204; Phenotypes: Sandhoff disease, neuropathy, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Nov 2021	Hereditary neuropathy or pain disorder v1.67	HEXB	Evan Reid edited their review of gene: HEXB: Changed rating: GREEN
30 Nov 2021	Hereditary neuropathy or pain disorder v1.67	HEXA	Evan Reid gene: HEXA was added gene: HEXA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXA were set to PMID: 28739864; 18642377 Penetrance for gene: HEXA were set to Complete Review for gene: HEXA was set to GREEN Added comment: Both HEXA and HEXB autosomal recessive mutations can be associated with a late onset motor neuropathy, sometimes quite mild and sometimes resembling ALS. We missed diagnosis of a patient with a late onset motor neuropathy as HEXB is not on the neuropathy panel. I would suggest that HEXA and HEXB should both be included on this panel. Sources: Literature
30 Nov 2021	Hereditary neuropathy or pain disorder v1.67	HEXB	Evan Reid reviewed gene: HEXB: Rating: ; Mode of pathogenicity: None; Publications: PMID: 31512525, 20798201, 2795083; Phenotypes: ALS, motor neuronopathy; Mode of inheritance: None
30 Nov 2021	Hereditary neuropathy or pain disorder v1.67	HEXB	Evan Reid gene: HEXB was added gene: HEXB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXB were set to PMID: 31512525 Penetrance for gene: HEXB were set to Complete
11 Nov 2021	Hereditary neuropathy or pain disorder v1.67	AR_CAG	Arina Puzriakova Phenotypes for STR: AR_CAG were changed from Spinal and bulbar muscular atrophy or Kennedy diseases 313200 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
11 Nov 2021	Hereditary neuropathy or pain disorder v1.66	FXN	Arina Puzriakova Phenotypes for gene: FXN were changed from Hereditary Neuropathies; Friedreich ataxia, 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
11 Nov 2021	Hereditary neuropathy or pain disorder v1.65	FXN	Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI to 'Biallelic' as monoallelic variants have not been associated with disease. Patients either harbour a homozygous expansion or are compound heterozygous for an expansion and a point mutation.
11 Nov 2021	Hereditary neuropathy or pain disorder v1.65	FXN	Arina Puzriakova Mode of inheritance for gene: FXN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	Hereditary neuropathy or pain disorder v1.64	FXN	Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: FXN.
26 Oct 2021	Hereditary neuropathy or pain disorder v1.64	CPOX	Ivone Leong Tag Q4_21_MOI tag was added to gene: CPOX.
26 Oct 2021	Hereditary neuropathy or pain disorder v1.64	CPOX	Ivone Leong reviewed gene: CPOX: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Oct 2021	Hereditary neuropathy or pain disorder v1.64	GBF1	Dmitrijs Rots reviewed gene: GBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Oct 2021	Hereditary neuropathy or pain disorder v1.64	TECPR2	Dmitrijs Rots gene: TECPR2 was added gene: TECPR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TECPR2 were set to PubMed: 33847017 Phenotypes for gene: TECPR2 were set to Hereditary sensory and autonomic neuropathy Penetrance for gene: TECPR2 were set to unknown Review for gene: TECPR2 was set to GREEN Added comment: Neuser et al. (2021) reported clinical findings in 17 patients, including 2 sib pairs, from 15 families segregating HSAN9. Sources: Literature
19 Oct 2021	Hereditary neuropathy or pain disorder v1.64	PRDM12	Sarah Leigh Phenotypes for gene: PRDM12 were changed from hereditary sensory & autonomic neuropathy type VIII to Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488; congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662
11 Oct 2021	Hereditary neuropathy or pain disorder v1.63	COX20	Zornitza Stark gene: COX20 was added gene: COX20 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX20 were set to 33751098 Phenotypes for gene: COX20 were set to Neuropathy Review for gene: COX20 was set to GREEN gene: COX20 was marked as current diagnostic Added comment: Well established association with mitochondrial disease, presentation with neuropathy reported PMID 33751098 Sources: Literature
06 Oct 2021	Hereditary neuropathy or pain disorder v1.63	AIFM1	Arina Puzriakova commented on gene: AIFM1
06 Oct 2021	Hereditary neuropathy or pain disorder v1.63	AIFM1	Arina Puzriakova Phenotypes for gene: AIFM1 were changed from Combined oxidative phosphorylation deficiency 6; Cowchock syndrome to Cowchock syndrome, OMIM:310490; Combined oxidative phosphorylation deficiency 6, OMIM:300816
06 Oct 2021	Hereditary neuropathy or pain disorder v1.62	ABCA1	Arina Puzriakova commented on gene: ABCA1
28 Sep 2021	Hereditary neuropathy or pain disorder v1.62	PIGB	Arina Puzriakova Classified gene: PIGB as Amber List (moderate evidence)
28 Sep 2021	Hereditary neuropathy or pain disorder v1.62	PIGB	Arina Puzriakova Added comment: Comment on list classification: Axonal degenerative polyneuropathy and demyelinating sensorimotor polyneuropathy are observed in the more severely affected individuals with biallelic variants in this gene. There are sufficient cases with a relevant phenotype (5 individuals from 3 families) to rate as Green at the next GMS panel update.
28 Sep 2021	Hereditary neuropathy or pain disorder v1.62	PIGB	Arina Puzriakova Gene: pigb has been classified as Amber List (Moderate Evidence).
28 Sep 2021	Hereditary neuropathy or pain disorder v1.61	PIGB	Arina Puzriakova Tag Q3_21_rating tag was added to gene: PIGB.
09 Sep 2021	Hereditary neuropathy or pain disorder v1.61	C1orf194	Sarah Leigh Tag Q3_21_rating was removed from C1orf194.
09 Sep 2021	Hereditary neuropathy or pain disorder v1.60	C1orf194	Sarah Leigh edited their review of gene: C1orf194: Added comment: This green review is based on the review of Alexander Rossor (UCL Institute of Neurology), 8 Mar 2021, which was entered in error on the entry for C1orf94. The review is as follows: Two unrelated families, knock in mouse with relevant phenotype. Functional evidence for one variant only. Sources: Expert list.; Changed rating: GREEN
09 Sep 2021	Hereditary neuropathy or pain disorder v1.60	C1orf194	Sarah Leigh Tag Q3_21_rating tag was added to gene: C1orf194. Tag Q3_21_NHS_review tag was added to gene: C1orf194.
09 Sep 2021	Hereditary neuropathy or pain disorder v1.60	C1orf194	Sarah Leigh Classified gene: C1orf194 as Amber List (moderate evidence)
09 Sep 2021	Hereditary neuropathy or pain disorder v1.60	C1orf194	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
09 Sep 2021	Hereditary neuropathy or pain disorder v1.60	C1orf194	Sarah Leigh Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
09 Sep 2021	Hereditary neuropathy or pain disorder v1.59	C1orf94	Sarah Leigh Tag Q3_21_NHS_review was removed from gene: C1orf94. Tag curated_removed tag was added to gene: C1orf94.
09 Sep 2021	Hereditary neuropathy or pain disorder v1.59	C1orf94	Sarah Leigh Tag Q3_21_rating was removed from gene: C1orf94.
09 Sep 2021	Hereditary neuropathy or pain disorder v1.59	C1orf94	Sarah Leigh Classified gene: C1orf94 as No list
09 Sep 2021	Hereditary neuropathy or pain disorder v1.59	C1orf94	Sarah Leigh Added comment: Comment on list classification: Curator deletion of this gene from this panel. This gene has been added to this panel in error. The publications, phenotype and reviews are appropriate for C1orf194 and not for C1orf94.
09 Sep 2021	Hereditary neuropathy or pain disorder v1.59	C1orf94	Sarah Leigh Gene: c1orf94 has been removed from the panel.
07 Sep 2021	Hereditary neuropathy or pain disorder v1.58	C1orf94	Sarah Leigh Classified gene: C1orf94 as Amber List (moderate evidence)
07 Sep 2021	Hereditary neuropathy or pain disorder v1.58	C1orf94	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
07 Sep 2021	Hereditary neuropathy or pain disorder v1.58	C1orf94	Sarah Leigh Gene: c1orf94 has been classified as Amber List (Moderate Evidence).
07 Sep 2021	Hereditary neuropathy or pain disorder v1.57	C1orf94	Sarah Leigh Tag Q3_21_rating tag was added to gene: C1orf94.
07 Sep 2021	Hereditary neuropathy or pain disorder v1.57	C1orf94	Sarah Leigh Tag Q3_21_NHS_review tag was added to gene: C1orf94.
07 Sep 2021	Hereditary neuropathy or pain disorder v1.57	C1orf94	Sarah Leigh changed review comment from: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least 2 variants reported, together with a supportive mouse knock-out model.; to: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least 2 variants reported, together with a supportive mouse knock-out model (PMID: 31199454; 32592472).
07 Sep 2021	Hereditary neuropathy or pain disorder v1.57	C1orf94	Sarah Leigh reviewed gene: C1orf94: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
07 Sep 2021	Hereditary neuropathy or pain disorder v1.57	C1orf94	Sarah Leigh Entity copied from Hereditary neuropathy v1.411
07 Sep 2021	Hereditary neuropathy or pain disorder v1.57	C1orf94	Sarah Leigh gene: C1orf94 was added gene: C1orf94 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: C1orf94 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: C1orf94 were set to 31199454; 32592472 Phenotypes for gene: C1orf94 were set to Intermediate Charcot-Marie-Tooth disease Penetrance for gene: C1orf94 were set to Complete Mode of pathogenicity for gene: C1orf94 was set to Other
06 Sep 2021	Hereditary neuropathy or pain disorder v1.56	JAG1	Arina Puzriakova Tag watchlist tag was added to gene: JAG1.
06 Sep 2021	Hereditary neuropathy or pain disorder v1.56	JAG1	Arina Puzriakova Phenotypes for gene: JAG1 were changed from Peripheral neuropathy to Vocal cord palsy; Peripheral neuropathy
06 Sep 2021	Hereditary neuropathy or pain disorder v1.55	JAG1	Arina Puzriakova Classified gene: JAG1 as Amber List (moderate evidence)
06 Sep 2021	Hereditary neuropathy or pain disorder v1.55	JAG1	Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Sullivan et al., 2020 (PMID:32065591) report two unrelated families with segregation, presenting vocal fold paresis. Knock in mouse model showed slight but nonsignificant reduction in compound muscle action potential and morphological assessments of the recurrent laryngeal nerve were normal. Mice did however display an increased frequency of axons with focally folded myelin. Notably, variants in JAG1 are associated with several phenotypes that have not included neuropathy and there was no history of cardiac, kidney, or liver disease in affected individuals in either of the two families discussed here (possibly different mechanisms of pathogenesis but further investigation may be warranted). At this point there is not enough evidence to add this gene as diagnostic-grade; however, additional cases would corroborate this gene-disease association - rating Amber with 'watchlist' tag.
06 Sep 2021	Hereditary neuropathy or pain disorder v1.55	JAG1	Arina Puzriakova Gene: jag1 has been classified as Amber List (Moderate Evidence).
26 Aug 2021	Hereditary neuropathy or pain disorder v1.54	GALC	Arina Puzriakova Phenotypes for gene: GALC were changed from Krabbe. Spastic paraplegia, developmental delay, optic atrophy; Krabbe disease, 245200; adult onset has spastic paraplegia and sensory-motor axonal neuropathy with slow or normal conduction velocities, MRI shows leukodystrophy to Krabbe disease, OMIM:245200
23 Aug 2021	Hereditary neuropathy or pain disorder v1.53	C12orf65	Arina Puzriakova Phenotypes for gene: C12orf65 were changed from to Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035
23 Aug 2021	Hereditary neuropathy or pain disorder v1.52	TFG	Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be assessed at the next GMS panel review. If the decision is made to include genes on this panel that are associated with neuropathy as part of a more complex phenotype, rather than isolated neuropathy, the MOI should be updated from 'monoallelic' only to 'both mono- and biallelic' . ----- Monoallelic variants are associated with an adult-onset motor and sensory neuropathy (MIM# 604484), a disorder that is relevant to this panel. Biallelic variants cause a HSP (MIM# 615658) which also has been shown to involve peripheral neuropathy in complex cases. Both phenotypes have a sufficient number of unrelated cases (>3) reported to warrant a Green rating (updated publications list).
23 Aug 2021	Hereditary neuropathy or pain disorder v1.52	TFG	Arina Puzriakova Mode of inheritance for gene: TFG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Aug 2021	Hereditary neuropathy or pain disorder v1.51	TFG	Arina Puzriakova Publications for gene: TFG were set to
23 Aug 2021	Hereditary neuropathy or pain disorder v1.50	TFG	Arina Puzriakova Tag Q3_21_MOI tag was added to gene: TFG. Tag Q3_21_expert_review tag was added to gene: TFG.
23 Aug 2021	Hereditary neuropathy or pain disorder v1.50	TFG	Arina Puzriakova Phenotypes for gene: TFG were changed from Hereditary motor and sensory neuropathy, Okinawa type; Chondrosarcoma, extraskeletal myxoid, 612237; Hereditary motor and sensory neuropathy, proximal type, 604484 to Hereditary motor and sensory neuropathy, Okinawa type, OMIM:604484; Spastic paraplegia 57, autosomal recessive, OMIM:615658
20 Aug 2021	Hereditary neuropathy or pain disorder v1.49	SPART	Arina Puzriakova Mode of inheritance for gene: SPART was changed from to BIALLELIC, autosomal or pseudoautosomal
19 Aug 2021	Hereditary neuropathy or pain disorder v1.48	SORD	Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: SORD.
19 Aug 2021	Hereditary neuropathy or pain disorder v1.48	VWA1	Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: VWA1.
17 Aug 2021	Hereditary neuropathy or pain disorder v1.48	FIG4	Sarah Leigh reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
17 Aug 2021	Hereditary neuropathy or pain disorder v1.48	FIG4	Sarah Leigh Deleted their review
17 Aug 2021	Hereditary neuropathy or pain disorder v1.48	FIG4	Sarah Leigh Phenotypes for gene: FIG4 were changed from Amyotrophic lateral sclerosis 11 OMIM:612577; amyotrophic lateral sclerosis type 11 MONDO:0012945; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J MONDO:0012640; Yunis Varon syndrome OMIM:216340; Yunis-Varon syndromeMONDO:0008995 to Amyotrophic lateral sclerosis 11 OMIM:612577; amyotrophic lateral sclerosis type 11 MONDO:0012945; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J MONDO:0012640; Yunis Varon syndrome OMIM:216340; Yunis-Varon syndrome MONDO:0008995
17 Aug 2021	Hereditary neuropathy or pain disorder v1.47	FIG4	Sarah Leigh Publications for gene: FIG4 were set to 17572665; 19118816 23888880 21705420
17 Aug 2021	Hereditary neuropathy or pain disorder v1.46	FIG4	Sarah Leigh Deleted their comment
17 Aug 2021	Hereditary neuropathy or pain disorder v1.46	FIG4	Sarah Leigh Publications for gene: FIG4 were set to 17572665
17 Aug 2021	Hereditary neuropathy or pain disorder v1.45	FIG4	Sarah Leigh Added comment: Comment on phenotypes: Amyotrophic lateral sclerosis 11 OMIM:612577; amyotrophic lateral sclerosis type 11 MONDO:0012945; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J MONDO:0012640;Yunis Varon syndrome OMIM:216340;Yunis-Varon syndromeMONDO:0008995
17 Aug 2021	Hereditary neuropathy or pain disorder v1.45	FIG4	Sarah Leigh Phenotypes for gene: FIG4 were changed from Charcot Marie Tooth disease, type 4J, 611228; Amyotrophic lateral sclerosis 11, 612577; Yunis Varon syndrome, 216340 to Amyotrophic lateral sclerosis 11 OMIM:612577; amyotrophic lateral sclerosis type 11 MONDO:0012945; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J MONDO:0012640; Yunis Varon syndrome OMIM:216340; Yunis-Varon syndromeMONDO:0008995
17 Aug 2021	Hereditary neuropathy or pain disorder v1.44	FIG4	Sarah Leigh Tag Q3_21_MOI tag was added to gene: FIG4.
12 Aug 2021	Hereditary neuropathy or pain disorder v1.44	SORD	Sarah Leigh Publications for gene: SORD were set to 32367058; 33314640; 33397963
12 Aug 2021	Hereditary neuropathy or pain disorder v1.43	SORD	Sarah Leigh Phenotypes for gene: SORD were changed from Neuropathy to Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912; sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055
12 Aug 2021	Hereditary neuropathy or pain disorder v1.42	VWA1	Sarah Leigh Publications for gene: VWA1 were set to 33559681; 33459760
12 Aug 2021	Hereditary neuropathy or pain disorder v1.41	VWA1	Sarah Leigh Classified gene: VWA1 as Amber List (moderate evidence)
12 Aug 2021	Hereditary neuropathy or pain disorder v1.41	VWA1	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
12 Aug 2021	Hereditary neuropathy or pain disorder v1.41	VWA1	Sarah Leigh Gene: vwa1 has been classified as Amber List (Moderate Evidence).
12 Aug 2021	Hereditary neuropathy or pain disorder v1.40	VWA1	Sarah Leigh reviewed gene: VWA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
12 Aug 2021	Hereditary neuropathy or pain disorder v1.40	VWA1	Sarah Leigh Tag Q3_21_rating tag was added to gene: VWA1.
12 Aug 2021	Hereditary neuropathy or pain disorder v1.40	VWA1	Sarah Leigh Publications for gene: VWA1 were set to 33559681
12 Aug 2021	Hereditary neuropathy or pain disorder v1.39	VWA1	Sarah Leigh Publications for gene: VWA1 were set to PMID: 33559681
12 Aug 2021	Hereditary neuropathy or pain disorder v1.38	VWA1	Sarah Leigh Phenotypes for gene: VWA1 were changed from axonal hereditary motor neuropathy; myopathy to Neuropathy, hereditary motor, with myopathic features OMIM:619216; neuropathy, hereditary motor, with myopathic features MONDO:0030977
09 Aug 2021	Hereditary neuropathy or pain disorder v1.37	VCP	Zornitza Stark reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25125609, 25878907, 32165109; Phenotypes: Charcot-Marie-Tooth disease, type 2Y, MIM# 616687; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Aug 2021	Hereditary neuropathy or pain disorder v1.37		Ivone Leong List of related panels changed from R78 to R78; Hereditary neuropathy or pain disorder – NOT PMP22 copy number Panel version 1.36 has been signed off on 2021-08-05
05 Aug 2021	Hereditary neuropathy or pain disorder v1.36	KIF1A	Arina Puzriakova Phenotypes for gene: KIF1A were changed from Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213 to Neuropathy, hereditary sensory, type IIC, OMIM:614213; Spastic paraplegia 30, autosomal dominant, OMIM:610357; Spastic paraplegia 30, autosomal recessive, OMIM:610357; NESCAV syndrome, OMIM:614255
05 Aug 2021	Hereditary neuropathy or pain disorder v1.35	KIF1A	Arina Puzriakova Tag Q3_21_MOI tag was added to gene: KIF1A. Tag Q3_21_expert_review tag was added to gene: KIF1A.
05 Aug 2021	Hereditary neuropathy or pain disorder v1.35	KIF1A	Arina Puzriakova Added comment: Comment on mode of inheritance: Biallelic variants are associated with autonomic-sensory neuropathy (MIM# 614213). KIF1A is also associated HSP type 30 (MIM# 610357) which can be inherited recessively or dominantly, as well as NESCAV syndrome (MIM# 614255) caused by heterozygous variants in this gene - both monoallelic conditions have been shown to include peripheral sensorimotor neuropathy. For this reason, the MOI could be changed from 'biallelic' to 'both mono- and biallelic' if it is decided to include genes on this panel that cause neuropathy as part of a more complex phenotype (tagged for GMS review)
05 Aug 2021	Hereditary neuropathy or pain disorder v1.35	KIF1A	Arina Puzriakova Mode of inheritance for gene: KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
28 Jul 2021	Hereditary neuropathy or pain disorder v1.34	GSN	Ivone Leong Tag Q3_21_rating tag was added to gene: GSN.
28 Jul 2021	Hereditary neuropathy or pain disorder v1.34	GSN	Ivone Leong Classified gene: GSN as Amber List (moderate evidence)
28 Jul 2021	Hereditary neuropathy or pain disorder v1.34	GSN	Ivone Leong Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
28 Jul 2021	Hereditary neuropathy or pain disorder v1.34	GSN	Ivone Leong Gene: gsn has been classified as Amber List (Moderate Evidence).
28 Jul 2021	Hereditary neuropathy or pain disorder v1.33	GSN	Ivone Leong Phenotypes for gene: GSN were changed from Amyloidosis; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy; arrhytmia to Amyloidosis, Finnish type, OMIM:105120; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy, MONDO:0004994; arrhythmia
28 Jul 2021	Hereditary neuropathy or pain disorder v1.32	GSN	Ivone Leong Publications for gene: GSN were set to PMID: 33499149; 26339870
28 Jul 2021	Hereditary neuropathy or pain disorder v1.31	BSCL2	Arina Puzriakova Phenotypes for gene: BSCL2 were changed from Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome 270685 to Neuropathy, distal hereditary motor, type VC, OMIM:619112
26 Jul 2021	Hereditary neuropathy or pain disorder v1.30	GSN	Dmitrijs Rots gene: GSN was added gene: GSN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GSN were set to PMID: 33499149; 26339870 Phenotypes for gene: GSN were set to Amyloidosis; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy; arrhytmia Penetrance for gene: GSN were set to Complete Review for gene: GSN was set to GREEN gene: GSN was marked as current diagnostic Added comment: Causes Amyloidosis, Finnish type with multisystem involvement. Peripheral and cranial neuropathy each reported in >70% of patients from >200 big cohort from Finland. PMID:26339870. Sources: Literature
06 Jul 2021	Hereditary neuropathy or pain disorder v1.30	ATM	Arina Puzriakova Phenotypes for gene: ATM were changed from Hereditary Neuropathies; Ataxia-telangiectasia to Ataxia-telangiectasia, OMIM:208900; Hereditary Neuropathies
28 Jun 2021	Hereditary neuropathy or pain disorder v1.29	XRCC1	Arina Puzriakova Phenotypes for gene: XRCC1 were changed from Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy; Spinocerebellar ataxia, autosomal recessive 26, 617633 to Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633
21 Jun 2021	Hereditary neuropathy or pain disorder v1.28	PIGB	Arina Puzriakova Phenotypes for gene: PIGB were changed from intellectual disability; developmental delay; epilepsy; axonal neuropathy to Developmental and epileptic encephalopathy 80, OMIM:618580
16 Jun 2021	Hereditary neuropathy or pain disorder v1.27	POLR3B	Arina Puzriakova Phenotypes for gene: POLR3B were changed from Ataxia, spasticity, and demyelinating neuropathy to POLR3B-related neurodevelopmental disorder; Ataxia, spasticity, and demyelinating neuropathy
16 Jun 2021	Hereditary neuropathy or pain disorder v1.26	POLR3B	Arina Puzriakova Classified gene: POLR3B as Amber List (moderate evidence)
16 Jun 2021	Hereditary neuropathy or pain disorder v1.26	POLR3B	Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Djordjevic et al. 2021 (PMID:33417887) identified different de novo POLR3B variants in 6 unrelated individuals. EMG/NCSs for 5/6 individuals revealed predominantly demyelinating sensory and motor neuropathy. Other features included ID, ataxia, spasticity. POLR3B is listed in G2P with a 'probable' disease confidence rating for this phenotype (POLR3B-related neurodevelopmental disorder - monoallelic), but is not yet in OMIM. Overall, there is sufficient evidence to warrant a Green rating on this panel.
16 Jun 2021	Hereditary neuropathy or pain disorder v1.26	POLR3B	Arina Puzriakova Gene: polr3b has been classified as Amber List (Moderate Evidence).
16 Jun 2021	Hereditary neuropathy or pain disorder v1.25	POLR3B	Arina Puzriakova Tag Q2_21_rating tag was added to gene: POLR3B.
12 Jun 2021	Hereditary neuropathy or pain disorder v1.25	CADM3	Zornitza Stark gene: CADM3 was added gene: CADM3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: CADM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CADM3 were set to 33889941 Phenotypes for gene: CADM3 were set to Charcot-Marie-Tooth disease 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 functional work in mice to show reduced expression of the mutant protein in axons and abnormal axonal organization. Sources: Literature
07 Jun 2021	Hereditary neuropathy or pain disorder v1.25	PIGB	Dmitrijs Rots gene: PIGB was added gene: PIGB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGB were set to 31256876 Phenotypes for gene: PIGB were set to intellectual disability; developmental delay; epilepsy; axonal neuropathy Penetrance for gene: PIGB were set to Complete Review for gene: PIGB was set to GREEN gene: PIGB was marked as current diagnostic Added comment: Murakami et al., reported 10 cases with biallelic PIGB variants with complex and severe phenotype, of whom 4 had peripheral neuropathy. Sources: Literature
27 May 2021	Hereditary neuropathy or pain disorder v1.25	SORD	James Polke reviewed gene: SORD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32367058, 33875678; Phenotypes: Peripheral Neuropathy, Charcot-Marie Tooth Disease, Sorbitol dehydrogenase deficiency with peripheral neuropathy (OMIM # 618912); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Apr 2021	Hereditary neuropathy or pain disorder v1.25	VWA1	Ian Berry gene: VWA1 was added gene: VWA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS Mode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VWA1 were set to PMID: 33559681 Phenotypes for gene: VWA1 were set to axonal hereditary motor neuropathy; myopathy Penetrance for gene: VWA1 were set to unknown Review for gene: VWA1 was set to GREEN gene: VWA1 was marked as current diagnostic Added comment: 17 individuals from 15 families, recurrent 10bp repeat allele causative in all patients. Detected in 100K so clearly tractable by WGS. Sources: NHS GMS
25 Mar 2021	Hereditary neuropathy or pain disorder v1.25	DHX9	Arina Puzriakova Classified gene: DHX9 as Red List (low evidence)
25 Mar 2021	Hereditary neuropathy or pain disorder v1.25	DHX9	Arina Puzriakova Added comment: Comment on list classification: Rating this gene as Red, but with a watchlist tag, until more evidence is available.
25 Mar 2021	Hereditary neuropathy or pain disorder v1.25	DHX9	Arina Puzriakova Gene: dhx9 has been classified as Red List (Low Evidence).
25 Mar 2021	Hereditary neuropathy or pain disorder v1.24	DHX9	Arina Puzriakova gene: DHX9 was added gene: DHX9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Other watchlist tags were added to gene: DHX9. Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DHX9 were set to Adult-onset axonal neuropathy Added comment: Conference poster (Genomics of Rare Disease 2021) - 'DExH-box helicase 9 (DHX9) is a candidate hereditary axonal neuropathy gene' by Fatih et al, Baylor College of Medicine - Report three unrelated individuals with adult-onset axonal neuropathy (age of onset: 41, 49, and 12 years old, respectively). Clinical features include limb weakness (3), muscle atrophy (2), diminished sensation in feet (2; plus in hands in 1 individual), ataxic gait (1), and painful neuropathy (1). All subjects exhibited neurogenic changes on EMG, and 2 cases also had normal or absent motor and sensory NCV. Exome sequencing revealed distinct heterozygous variants in the DHX9 gene ([c.2537A>G, p.Asp846Gly]; [c.2510G>C, p.Arg837Thr]; [c.3763G>A, p.Ala1255Thr]). Segregation data was only available for one case, showing de novo occurrence. No functional data presented. These variants have to be validated and currently DHX9 is deemed a candidate gene. No other publications in relation to this gene and phenotype are available in PubMed at this time. Baylor College of Medicine POC: Dr. Daniel Calame, [email protected] Sources: Other
05 Mar 2021	Hereditary neuropathy or pain disorder v1.23	SPTAN1	Zornitza Stark gene: SPTAN1 was added gene: SPTAN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTAN1 were set to 20493457; 22258530; 32811770 Phenotypes for gene: SPTAN1 were set to Hereditary motor neuropathy Review for gene: SPTAN1 was set to GREEN gene: SPTAN1 was marked as current diagnostic Added comment: Gene previously associated with DEE. PMID 32811770: 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
24 Feb 2021	Hereditary neuropathy or pain disorder v1.23	C12orf65	Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
24 Feb 2021	Hereditary neuropathy or pain disorder v1.23	C12orf65	Catherine Snow commented on gene: C12orf65
01 Feb 2021	Hereditary neuropathy or pain disorder v1.23	POLR3B	Zornitza Stark gene: POLR3B was added gene: POLR3B was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: POLR3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR3B were set to 33417887 Phenotypes for gene: POLR3B were set to Ataxia, spasticity, and demyelinating neuropathy Review for gene: POLR3B was set to GREEN Added comment: Note biallelic variants cause a leukodystrophy. New MOI and new phenotype reported in PMID: 33417887: Six unrelated individuals with de novo missense variants and ataxia, spasticity, variable intellectual disability and epilepsy, and predominantly demyelinating sensory motor peripheral neuropathy. Protein modeling and proteomic analysis shows variants caused aberrant association of individual enzyme subunits rather than affecting overall enzyme assembly or stability. Sources: Literature
28 Jan 2021	Hereditary neuropathy or pain disorder v1.23	SORD	Ivone Leong Tag for-review tag was added to gene: SORD.
28 Jan 2021	Hereditary neuropathy or pain disorder v1.23	SORD	Ivone Leong Classified gene: SORD as Amber List (moderate evidence)
28 Jan 2021	Hereditary neuropathy or pain disorder v1.23	SORD	Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics) and recommended to be Green by David Hunt (Wessex Clinical Genetics Service). "Given that this is a potentially treatable neuropathy (https://www.ucl.ac.uk/ion/news/2020/may/sord-neuropathy-accelerated-journey-gene-identification-effective-treatment-patients), I think that SORD should be included in the ‘Hereditary neuropathy NOT PMP22 copy number’ gene panel." There is enough evidence to support a gene-disease association and this gene should be Green at the next review.
28 Jan 2021	Hereditary neuropathy or pain disorder v1.23	SORD	Ivone Leong Gene: sord has been classified as Amber List (Moderate Evidence).
28 Jan 2021	Hereditary neuropathy or pain disorder v1.22	SORD	Ivone Leong Publications for gene: SORD were set to 32367058
25 Jan 2021	Hereditary neuropathy or pain disorder v1.21	PNKP	Sarah Leigh Tag for-review tag was added to gene: PNKP.
25 Jan 2021	Hereditary neuropathy or pain disorder v1.21	PNKP	Sarah Leigh Classified gene: PNKP as Amber List (moderate evidence)
25 Jan 2021	Hereditary neuropathy or pain disorder v1.21	PNKP	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
25 Jan 2021	Hereditary neuropathy or pain disorder v1.21	PNKP	Sarah Leigh Gene: pnkp has been classified as Amber List (Moderate Evidence).
25 Jan 2021	Hereditary neuropathy or pain disorder v1.20	PNKP	Sarah Leigh Publications for gene: PNKP were set to 30039206
25 Jan 2021	Hereditary neuropathy or pain disorder v1.19	PNKP	Sarah Leigh reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
13 Jan 2021	Hereditary neuropathy or pain disorder v1.19	PNKP	Dmitrijs Rots reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30039206; Phenotypes: Polyneuropathy, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
07 Jan 2021	Hereditary neuropathy or pain disorder v1.19	NUDT2	Zornitza Stark reviewed gene: NUDT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33058507, 27431290, 30059600, 33058507; Phenotypes: Muscular hypotonia, Global developmental delay, Intellectual disability, Polyneuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
18 Dec 2020	Hereditary neuropathy or pain disorder v1.19	AARS	Arina Puzriakova Phenotypes for gene: AARS were changed from Charcot Marie Tooth disease, axonal, type 2N, 613287; Charcot-Marie-Tooth, Type 2 to Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287; Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
02 Dec 2020	Hereditary neuropathy or pain disorder v1.18	UBA5	Arina Puzriakova gene: UBA5 was added gene: UBA5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBA5 were set to 32179706 Phenotypes for gene: UBA5 were set to Hypomyelinating neuropathy Added comment: Note that UBA5 variants have been associated with a range of neurological phenotypes including epilepsy, ID and ataxia. PMID: 32179706 (2020) - Five affected individuals from a consanguineous family presenting with a severe congenital neuropathy causing early death in infancy. Some in vitro functional data included. Due to early mortality, unclear whether additional features previously associated with UBA5 variants would have developed. Sources: Literature
10 Nov 2020	Hereditary neuropathy or pain disorder v1.17	SPTBN4	Arina Puzriakova Classified gene: SPTBN4 as Amber List (moderate evidence)
10 Nov 2020	Hereditary neuropathy or pain disorder v1.17	SPTBN4	Arina Puzriakova Added comment: Comment on list classification: Following discussion with Helen Brittain (Genomics England Clinical Team) it has been agreed to add this gene as Amber, awaiting review by the GMS specialist group (added 'for-review' tag). Although neuropathy is reported in at least 5 unrelated cases with biallelic SPTBN4 variants, the phenotype relevance requires review due to the more limited scope of this panel.
10 Nov 2020	Hereditary neuropathy or pain disorder v1.17	SPTBN4	Arina Puzriakova Gene: sptbn4 has been classified as Amber List (Moderate Evidence).
10 Nov 2020	Hereditary neuropathy or pain disorder v1.16	SPTBN4	Arina Puzriakova gene: SPTBN4 was added gene: SPTBN4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature for-review tags were added to gene: SPTBN4. Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN4 were set to 28540413; 28940097; 29861105; 31230720; 31857255; 32672909 Phenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 Review for gene: SPTBN4 was set to AMBER Added comment: At least 11 individuals from 9 unrelated families with biallelic variants in SPTBN4 reported at present. Motor neuronopathy/axonopathy was reported in 5 unrelated families. A formal evaluation by EMG/NCS was not conducted in the rest but phenotypes did include hypotonia and hyporeflexia which could be suggestive of neuropathy. Sources: Literature
04 Nov 2020	Hereditary neuropathy or pain disorder v1.15	ITPR3	Zornitza Stark gene: ITPR3 was added gene: ITPR3 was added to Hereditary neuropathy NOT PMP22 copy number. 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 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
03 Nov 2020	Hereditary neuropathy or pain disorder v1.15	NUDT2	Arina Puzriakova Classified gene: NUDT2 as Amber List (moderate evidence)
03 Nov 2020	Hereditary neuropathy or pain disorder v1.15	NUDT2	Arina Puzriakova Added comment: Comment on list classification: Rating Amber as only 2 unrelated cases harbouring the same variant reported at present
03 Nov 2020	Hereditary neuropathy or pain disorder v1.15	NUDT2	Arina Puzriakova Gene: nudt2 has been classified as Amber List (Moderate Evidence).
03 Nov 2020	Hereditary neuropathy or pain disorder v1.14	NUDT2	Arina Puzriakova commented on gene: NUDT2: Comment on tags: added 'founder-effect' tag - although authors state that they do not believe p.Ala63GlnfsTer3 to be a founder variant (one family of Mexican descent while the other of Cajun descent), this was not confirmed by haplotype analysis. Also added 'watchlist' tag in anticipation of further publications/clinical evidence to support association with this phenotype.
03 Nov 2020	Hereditary neuropathy or pain disorder v1.14	NUDT2	Arina Puzriakova Publications for gene: NUDT2 were set to 27431290; 30059600; 33058507
03 Nov 2020	Hereditary neuropathy or pain disorder v1.13	NUDT2	Arina Puzriakova gene: NUDT2 was added gene: NUDT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature watchlist, founder-effect tags were added to gene: NUDT2. Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDT2 were set to 27431290; 30059600; 33058507 Phenotypes for gene: NUDT2 were set to Sensorimotor polyneuropathy; Muscular hypotonia; Intellectual disability; no OMIM number Review for gene: NUDT2 was set to AMBER Added comment: - PMID: 33058507 (2020) - Three patients from two families harbouring the same homozygous variant (c.186del, p.Ala63GlnfsTer3). Affected individuals present distal upper and lower extremity weakness due to a sensorimotor polyneuropathy with demyelinating and/or axonal features. ---------- A further 4 Saudi families (7 affected individuals) with a different homozygous NUDT2 variant (c.34C> T, p.Arg12) have been published elsewhere (PMID: 27431290, 30059600), however neuropathy was not reported in these cases. Sources: Literature
03 Nov 2020	Hereditary neuropathy or pain disorder v1.12	NEMF	Arina Puzriakova Classified gene: NEMF as Amber List (moderate evidence)
03 Nov 2020	Hereditary neuropathy or pain disorder v1.12	NEMF	Arina Puzriakova Added comment: Comment on list classification: Rating Amber but there is sufficient evidence to promote to Green at the next GMS panel update (added 'for-review' tag) - axonal neuropathy reported in all formally assessed cases (at least 4 with biallelic variants)
03 Nov 2020	Hereditary neuropathy or pain disorder v1.12	NEMF	Arina Puzriakova Gene: nemf has been classified as Amber List (Moderate Evidence).
03 Nov 2020	Hereditary neuropathy or pain disorder v1.11	NEMF	Arina Puzriakova Added comment: Comment on mode of inheritance: Set MOI to 'Biallelic' as only 1 case with a monoallelic variant described at present. The 'watchlist' tag has been added while further evidence is gathered to establish whether or not there is a wider association with monoallelic variants and disease.
03 Nov 2020	Hereditary neuropathy or pain disorder v1.11	NEMF	Arina Puzriakova Mode of inheritance for gene: NEMF was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
03 Nov 2020	Hereditary neuropathy or pain disorder v1.10	NEMF	Arina Puzriakova edited their review of gene: NEMF: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
03 Nov 2020	Hereditary neuropathy or pain disorder v1.10	NEMF	Arina Puzriakova gene: NEMF was added gene: NEMF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature watchlist, for-review tags were added to gene: NEMF. Mode of inheritance for gene: NEMF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEMF were set to 32934225; 33048237 Phenotypes for gene: NEMF were set to Hypotonia; Axonal neuropathy; Ataxia; Abnormal brain imaging; Global developmental delay; Intellectual disability; Kyphosis; Scoliosis; Tremor; Respiratory distress Review for gene: NEMF was set to GREEN Added comment: Currently not associated with any phenotype in OMIM (last edited on 04/01/2017) or Gene2Phenotype. Gene added and expert reviewed on Intellectual Disability panel: https://panelapp.genomicsengland.co.uk/panels/285/gene/NEMF/ - PMID: 32934225 (2020) - 8 individuals from 6 families with a juvenile neuromuscular disease due to biallelic NEMF variants. A ninth individual with similar presentation was found to harbor a single NEMF missense SNV as de novo event. Features incl. hypotonia (4/8 with biallelic variant (B) \| 1/1 monoallelic (M)), DD/ID (7/8B \| 0/1M) with speech delay as universal feature (8/8B \| 1/1M), axonal neuropathy (3/3B \| 1/1M), ataxia (3/8B \| 0/1M). Other findings included tremor (1/7B \| 1/1M), abnormal brain imaging (2/6B / ?/1M), kyphosis/scoliosis (4/8B \| 0/1M), respiratory distress (1/8B \| 0/1M). The authors provide evidence that mice homozygous for Nemf missense mutations display progressive motor phenotypes, exhibit neurogenic atrophy and progressive axonal degeneration. - PMID: 33048237 (2020) - 13 affected individuals from 5 unrelated families presenting with a spectrum of central and peripheral neurological involvement. Peripheral systemic neurological manifestations such as impaired eye movements, limb weakness, and axonal polyneuropathy were found in families 1, 2 and 5 - however, only 2 sibs from family 2 had a precise diagnosis for polyneuropathies. Knockdown studies in cultured mouse primary cortical neurons showed a significant decrease in axon length and impaired synapse development. Sources: Literature
06 Oct 2020	Hereditary neuropathy or pain disorder v1.9	SMN1	Eleanor Williams Publications for gene: SMN1 were set to
06 Oct 2020	Hereditary neuropathy or pain disorder v1.8	SMN1	Eleanor Williams reviewed gene: SMN1: Rating: ; Mode of pathogenicity: None; Publications: 32644125, 32644120; Phenotypes: Spinal muscular atrophy; Mode of inheritance: None
05 Oct 2020	Hereditary neuropathy or pain disorder v1.8	GBF1	Zornitza Stark gene: GBF1 was added gene: GBF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: GBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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
23 Sep 2020	Hereditary neuropathy or pain disorder v1.8	C1orf194	Arina Puzriakova changed review comment from: PMID: 32592472 (2020) - Another knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy.; to: 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.
23 Sep 2020	Hereditary neuropathy or pain disorder v1.8	C1orf194	Arina Puzriakova edited their review of gene: C1orf194: Added comment: PMID: 32592472 (2020) - Another knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy.; Changed publications: 32592472; Changed phenotypes: Charcot-Marie-Tooth
23 Sep 2020	Hereditary neuropathy or pain disorder v1.8	C1orf194	Arina Puzriakova Publications for gene: C1orf194 were set to 31199454
23 Sep 2020	Hereditary neuropathy or pain disorder v1.7	C1orf194	Arina Puzriakova Classified gene: C1orf194 as Amber List (moderate evidence)
23 Sep 2020	Hereditary neuropathy or pain disorder v1.7	C1orf194	Arina Puzriakova Added comment: Comment on list classification: This is has been added with an Amber rating, in accordance with the expert review by Zornitza Stark.
23 Sep 2020	Hereditary neuropathy or pain disorder v1.7	C1orf194	Arina Puzriakova Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
03 Aug 2020	Hereditary neuropathy or pain disorder v1.6	ACOX1	Zornitza Stark gene: ACOX1 was added gene: ACOX1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACOX1 were set to 32169171 Phenotypes for gene: ACOX1 were set to Mitchell syndrome, MIM# 618960 Review for gene: ACOX1 was set to GREEN gene: ACOX1 was marked as current diagnostic Added comment: Mono-allelic variants (recurrent de novo missense, N237S) associated with Mitchell syndrome (MITCH): a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. By contrast, bi-allelic variants cause a peroxisomal disorder characterised by neonatal hypotonia, seizures, apnoeic spells, delayed psychomotor development, and neurologic regression. Sources: Literature
13 Jul 2020	Hereditary neuropathy or pain disorder v1.6	SLC12A6	Sarah Leigh commented on gene: SLC12A6: For-review tag has been added as it maybe appropriate to change the MOI to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified.
13 Jul 2020	Hereditary neuropathy or pain disorder v1.6	SLC12A6	Sarah Leigh commented on gene: SLC12A6
13 Jul 2020	Hereditary neuropathy or pain disorder v1.6	SLC12A6	Sarah Leigh Publications for gene: SLC12A6 were set to 12368912
13 Jul 2020	Hereditary neuropathy or pain disorder v1.5	SLC12A6	Sarah Leigh Tag for-review tag was added to gene: SLC12A6.
06 Jul 2020	Hereditary neuropathy or pain disorder v1.5	YARS	Sarah Leigh Tag new-gene-name tag was added to gene: YARS.
06 Jul 2020	Hereditary neuropathy or pain disorder v1.5	YARS	Sarah Leigh commented on gene: YARS
01 Jul 2020	Hereditary neuropathy or pain disorder v1.5	EMILIN1	Zornitza Stark gene: EMILIN1 was added gene: EMILIN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: EMILIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EMILIN1 were set to 31978608; 26462740 Phenotypes for gene: EMILIN1 were set to Peripheral neuropathy; aortic aneurysm Review for gene: EMILIN1 was set to AMBER Added comment: Missense mutations identified in two families. First family, proband presented with ascending and descending aortic aneurysms, bilateral lower leg and foot sensorimotor peripheral neuropathy, arthropathy, and increased skin elasticity. Variant segregated with disease in the affected proband, mother, and son. Second family, father and three affected children showed amyotrophy and weakness of the distal lower limbs, dating back to early childhood. Some functional studies performed in patient fibroblasts and zebrafish, however these were not conclusive as the two missense mutations are at different locations within the protein. Sources: Literature
30 Jun 2020	Hereditary neuropathy or pain disorder v1.5	MCM3AP	Eleanor Williams Publications for gene: MCM3AP were set to 28633435
30 Jun 2020	Hereditary neuropathy or pain disorder v1.4	MCM3AP	Eleanor Williams reviewed gene: MCM3AP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32202298; Phenotypes: peripheral neuropathy with or without impaired intellectual development, 618124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
03 Jun 2020	Hereditary neuropathy or pain disorder v1.4	SORD	Zornitza Stark gene: SORD was added gene: SORD was added to Hereditary neuropathy NOT PMP22 copy number. 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 Neuropathy Review for gene: SORD was set to GREEN 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
02 Jun 2020	Hereditary neuropathy or pain disorder v1.4	DMD	Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
01 May 2020	Hereditary neuropathy or pain disorder v1.4	C1orf194	Zornitza Stark gene: C1orf194 was added gene: C1orf194 was added to Hereditary neuropathy NOT PMP22 copy number. 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
23 Apr 2020	Hereditary neuropathy or pain disorder v1.4	JAG1	Zornitza Stark gene: JAG1 was added gene: JAG1 was added to Hereditary neuropathy NOT PMP22 copy number. 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 Mode of pathogenicity for gene: JAG1 was set to Other 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
02 Apr 2020	Hereditary neuropathy or pain disorder v1.4	VAPB	Zornitza Stark gene: VAPB was added gene: VAPB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VAPB were set to 15372378; 32162544; 28993872; 28173107; 26566915 Phenotypes for gene: VAPB were set to Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA; Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980 Review for gene: VAPB was set to GREEN Added comment: p.P56S variant found in multiple families from different ethnicities but additional variant also reported; functional data. Sources: Expert list
02 Apr 2020	Hereditary neuropathy or pain disorder v1.4	UBA1	Zornitza Stark gene: UBA1 was added gene: UBA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: UBA1 were set to 18179898 Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile MIM#301830 Review for gene: UBA1 was set to GREEN gene: UBA1 was marked as current diagnostic Added comment: Five families reported, gene is Green on the Paediatric motor neuropathies panel. Sources: Expert list
02 Apr 2020	Hereditary neuropathy or pain disorder v1.4	SYT2	Zornitza Stark reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25192047, 30533528, 26519543; Phenotypes: Myasthenic syndrome, congenital, 7, presynaptic, HMSN; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
02 Apr 2020	Hereditary neuropathy or pain disorder v1.4	SCO2	Zornitza Stark gene: SCO2 was added gene: SCO2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 29351582 Phenotypes for gene: SCO2 were set to axonal Charcot-Marie-Tooth disease Review for gene: SCO2 was set to AMBER Added comment: Two unrelated cases with compound heterozygous variants and a CMT phenotype. Cardiomyopathy not present. Sources: Expert list
01 Apr 2020	Hereditary neuropathy or pain disorder v1.4	PDK3	Zornitza Stark reviewed gene: PDK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23297365, 26801680, 27388934, 28902413; Phenotypes: Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905, HMSN; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
01 Apr 2020	Hereditary neuropathy or pain disorder v1.4	NTRK1	Zornitza Stark reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis, MIM# 256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
31 Mar 2020	Hereditary neuropathy or pain disorder v1.4	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
31 Mar 2020	Hereditary neuropathy or pain disorder v1.4	DHTKD1	Zornitza Stark reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23141294, 29661920, 28902413; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Q, MIM#615025; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
31 Mar 2020	Hereditary neuropathy or pain disorder v1.4	ARHGEF10	Zornitza Stark reviewed gene: ARHGEF10: Rating: GREEN; Mode of pathogenicity: None; Publications: 14508709, 21719701, 25025039, 25275565, 25091364; Phenotypes: Slowed nerve conduction velocity, MIM# 608236; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 Mar 2020	Hereditary neuropathy or pain disorder v1.4	AIFM1	Zornitza Stark edited their review of gene: AIFM1: Changed publications: 22019070, 26173962, 25583628
30 Mar 2020	Hereditary neuropathy or pain disorder v1.4	AIFM1	Zornitza Stark reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
30 Mar 2020	Hereditary neuropathy or pain disorder v1.4	ABCA1	Zornitza Stark reviewed gene: ABCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Tangier disease, MIM# 205400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Feb 2020	Hereditary neuropathy or pain disorder v1.3		Catherine Snow Panel version has been signed off
27 Feb 2020	Hereditary neuropathy or pain disorder v1.2		Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
18 Dec 2019	Hereditary neuropathy or pain disorder v1.0	WARS	Louise Daugherty Tag new-gene-name tag was added to gene: WARS.
18 Dec 2019	Hereditary neuropathy or pain disorder v1.0	WARS	Louise Daugherty commented on gene: WARS: Added new-gene-name tag, new approved HGNC gene symbol for WARS is WARS1
18 Dec 2019	Hereditary neuropathy or pain disorder v1.0	HARS	Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
18 Dec 2019	Hereditary neuropathy or pain disorder v1.0	GARS	Louise Daugherty Deleted their comment
18 Dec 2019	Hereditary neuropathy or pain disorder v1.0	GARS	Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
18 Dec 2019	Hereditary neuropathy or pain disorder v1.0	GARS	Louise Daugherty commented on gene: GARS: Added new-gene-name tag, new approved HGNC gene symbol for GARS is GARS1
18 Dec 2019	Hereditary neuropathy or pain disorder v1.0	AARS	Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
18 Dec 2019	Hereditary neuropathy or pain disorder v1.0	AARS	Louise Daugherty commented on gene: AARS: Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1
18 Dec 2019	Hereditary neuropathy or pain disorder v1.0	SEPT9	Louise Daugherty commented on gene: SEPT9: Added new-gene-name tag, new approved HGNC gene symbol for SEPT9 is SEPTIN9
18 Dec 2019	Hereditary neuropathy or pain disorder v1.0	SEPT9	Louise Daugherty Tag new-gene-name tag was added to gene: SEPT9.
13 Dec 2019	Hereditary neuropathy or pain disorder v1.0		Louise Daugherty promoted panel to version 1.0
13 Dec 2019	Hereditary neuropathy or pain disorder v0.108		Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
13 Dec 2019	Hereditary neuropathy or pain disorder v0.107	ABCA1	Louise Daugherty changed review comment from: Comment on list classification: Changed from Amber to Green - is a very rare condition, the primary feature can be neuropathy so if abnormalities of lipids or tonsils are missed or not present the diagnosis will not be made. However if there is a second panel to go to after the primary neuropathy panel and it is on it then it should still be diagnosed as long as a patient with primary neuropathy only would still be eligible for the more syndromic panel.; to: Comment on list classification: Changed from Amber to Green - recommendation from Genomics England clinical ream - is a very rare condition, the primary feature can be neuropathy so if abnormalities of lipids or tonsils are missed or not present the diagnosis will not be made. However if there is a second panel to go to after the primary neuropathy panel and it is on it then it should still be diagnosed as long as a patient with primary neuropathy only would still be eligible for the more syndromic panel.
13 Dec 2019	Hereditary neuropathy or pain disorder v0.107	ABCA1	Louise Daugherty Classified gene: ABCA1 as Green List (high evidence)
13 Dec 2019	Hereditary neuropathy or pain disorder v0.107	ABCA1	Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green - is a very rare condition, the primary feature can be neuropathy so if abnormalities of lipids or tonsils are missed or not present the diagnosis will not be made. However if there is a second panel to go to after the primary neuropathy panel and it is on it then it should still be diagnosed as long as a patient with primary neuropathy only would still be eligible for the more syndromic panel.
13 Dec 2019	Hereditary neuropathy or pain disorder v0.107	ABCA1	Louise Daugherty Gene: abca1 has been classified as Green List (High Evidence).
13 Dec 2019	Hereditary neuropathy or pain disorder v0.106	VCP	Louise Daugherty Classified gene: VCP as Amber List (moderate evidence)
13 Dec 2019	Hereditary neuropathy or pain disorder v0.106	VCP	Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber from recommendation from Alex Rossor - only two published cases of VCP and neuropathy. P.Glu185Lys is absent form GNOMAD but p.Glu185Asp is present 4 times. I don’t think there have been any more cases. Might it be better as Amber for neuropathy?
13 Dec 2019	Hereditary neuropathy or pain disorder v0.106	VCP	Louise Daugherty Gene: vcp has been classified as Amber List (Moderate Evidence).
10 Dec 2019	Hereditary neuropathy or pain disorder v0.105		Louise Daugherty Panel types changed to GMS Rare Disease
10 Dec 2019	Hereditary neuropathy or pain disorder v0.104	AR_CAG	Louise Daugherty Classified STR: AR_CAG as Green List (high evidence)
10 Dec 2019	Hereditary neuropathy or pain disorder v0.104	AR_CAG	Louise Daugherty Added comment: Comment on list classification: changed rating : It was agreed that the 10 STRs submitted by Alex Rossor should be on the WGS panel only, with the exception of AR, which should be on both- so this STR was upgraded to Green - R78 has no mention of age in the directory, and will mostly be used for non-syndromic adult cases.
10 Dec 2019	Hereditary neuropathy or pain disorder v0.104	AR_CAG	Louise Daugherty Str: ar_cag has been classified as Green List (High Evidence).
07 Dec 2019	Hereditary neuropathy or pain disorder v0.103	SYT2	Louise Daugherty Mode of inheritance for gene: SYT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
07 Dec 2019	Hereditary neuropathy or pain disorder v0.102	TRPA1	Louise Daugherty Mode of inheritance for gene: TRPA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
07 Dec 2019	Hereditary neuropathy or pain disorder v0.101	TRPA1	Louise Daugherty Phenotypes for gene: TRPA1 were changed from to Episodic pain syndrome, familial, 1, 615040
07 Dec 2019	Hereditary neuropathy or pain disorder v0.100	PEX10	Louise Daugherty Mode of inheritance for gene: PEX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
07 Dec 2019	Hereditary neuropathy or pain disorder v0.99	MTTP	Louise Daugherty Mode of inheritance for gene: MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal
07 Dec 2019	Hereditary neuropathy or pain disorder v0.98	MTTP	Louise Daugherty Phenotypes for gene: MTTP were changed from Hereditary Neuropathies to Hereditary Neuropathies; Abetalipoproteinemia, 200100
07 Dec 2019	Hereditary neuropathy or pain disorder v0.97	FXN	Louise Daugherty Phenotypes for gene: FXN were changed from Hereditary Neuropathies to Hereditary Neuropathies; Friedreich ataxia, 229300
07 Dec 2019	Hereditary neuropathy or pain disorder v0.96	FXN	Louise Daugherty Mode of inheritance for gene: FXN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
07 Dec 2019	Hereditary neuropathy or pain disorder v0.95	SCN10A	Louise Daugherty Mode of inheritance for gene: SCN10A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
07 Dec 2019	Hereditary neuropathy or pain disorder v0.94	SCN10A	Louise Daugherty Phenotypes for gene: SCN10A were changed from to Episodic pain syndrome, familial, 2, 615551
07 Dec 2019	Hereditary neuropathy or pain disorder v0.93	ATP1A1	Louise Daugherty Mode of inheritance for gene: ATP1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
07 Dec 2019	Hereditary neuropathy or pain disorder v0.92	FBXO38	Louise Daugherty changed review comment from: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / SMA - limited evidence, some functional work but not strong - Amber? 2 families one very large segregating gene, possibly green if test Group supports rating?; to: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / SMA - limited evidence, some functional work but not strong - Amber? 2 families one very large segregating gene, possibly green if test Group supports rating?
07 Dec 2019	Hereditary neuropathy or pain disorder v0.92	DNAJB2	Louise Daugherty Classified gene: DNAJB2 as Green List (high evidence)
07 Dec 2019	Hereditary neuropathy or pain disorder v0.92	DNAJB2	Louise Daugherty Gene: dnajb2 has been classified as Green List (High Evidence).
07 Dec 2019	Hereditary neuropathy or pain disorder v0.91	DNAJB2	Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ New evidence/re-evaluation of evidence - promotion to Green? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases (PMID: 28018906); to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ New evidence/re-evaluation of evidence - promotion to Green? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases (PMID: 28018906) recessive CMT/ HMN.
07 Dec 2019	Hereditary neuropathy or pain disorder v0.91	DNAJB2	Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ New evidence/re-evaluation of evidence - promotion to Green? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases. ; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ New evidence/re-evaluation of evidence - promotion to Green? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases (PMID: 28018906)
07 Dec 2019	Hereditary neuropathy or pain disorder v0.91	DNAJB2	Louise Daugherty changed review comment from: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ Green for larger panel only as main phenotype is distal SMA; AR to provide further references; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ New evidence/re-evaluation of evidence - promotion to Green? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases.
07 Dec 2019	Hereditary neuropathy or pain disorder v0.91	PPOX	Louise Daugherty edited their review of gene: PPOX: Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy or pain disorder v0.91	HMBS	Louise Daugherty edited their review of gene: HMBS: Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy or pain disorder v0.91	AR_CAG	Louise Daugherty Classified STR: AR_CAG as Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy or pain disorder v0.91	AR_CAG	Louise Daugherty Str: ar_cag has been classified as Amber List (Moderate Evidence).
07 Dec 2019	Hereditary neuropathy or pain disorder v0.90	AR_CAG	Louise Daugherty edited their review of STR: AR_CAG: Changed rating: AMBER
07 Dec 2019	Hereditary neuropathy or pain disorder v0.90	AR_CAG	Louise Daugherty STR: AR_CAG was added STR: AR_CAG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review STR tags were added to STR: AR_CAG. Mode of inheritance for STR: AR_CAG 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 STR: AR_CAG were set to Spinal and bulbar muscular atrophy or Kennedy diseases 313200 Review for STR: AR_CAG was set to GREEN Added comment: New Green STR submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group. This STR has been rated Amber until further discussion with the Neurology Test Group on 21st June 2019- although appropriate to have on this panel, they can be more late-onset, this panel is used for children so needs further discussion with the GLHs and Genomics England Clinical team before upgrading to Green. Sources: Expert Review
07 Dec 2019	Hereditary neuropathy or pain disorder v0.89	PDK3	Louise Daugherty Classified gene: PDK3 as Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy or pain disorder v0.89	PDK3	Louise Daugherty Gene: pdk3 has been classified as Amber List (Moderate Evidence).
07 Dec 2019	Hereditary neuropathy or pain disorder v0.88	DGUOK	Louise Daugherty Classified gene: DGUOK as Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy or pain disorder v0.88	DGUOK	Louise Daugherty Gene: dguok has been classified as Amber List (Moderate Evidence).
07 Dec 2019	Hereditary neuropathy or pain disorder v0.87	VCP	Louise Daugherty Classified gene: VCP as Green List (high evidence)
07 Dec 2019	Hereditary neuropathy or pain disorder v0.87	VCP	Louise Daugherty Gene: vcp has been classified as Green List (High Evidence).
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	ZFYVE26	Louise Daugherty commented on gene: ZFYVE26: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - HSP with neuropathy / Broader phenotype: HSP
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	XRCC1	Louise Daugherty commented on gene: XRCC1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope but limited evidence / Broader phenotype: SCA26, 2 cases in OMIM
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	XPA	Louise Daugherty commented on gene: XPA: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: XP/de Sanctis-Cacchione syndrome - does only this form of XP have neurological features?
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	XK	Louise Daugherty commented on gene: XK: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: McLeod syndrome, note adult onset
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	VPS13A	Louise Daugherty commented on gene: VPS13A: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: Choreoacanthocytosis
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	VCP	Louise Daugherty edited their review of gene: VCP: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: ALS+/-FTD; unclear whether also causes CMT - Amber? Very rare but I think include as Green as reasonable evidence for distal myopathy/neuropathy; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	TWNK	Louise Daugherty commented on gene: TWNK: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: mitochondrial, comment that neuropathy is not common
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	TTPA	Louise Daugherty commented on gene: TTPA: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - ataxia with neuropathy / Broader phenotype: ataxia with vitamin E deficiency More likely to present as ataxia on ataxia panel
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	TRPA1	Louise Daugherty commented on gene: TRPA1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Episodic pain syndrome - within scope of panel? Only 1 family in OMIM Agree not enough evidence
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	SURF1	Louise Daugherty commented on gene: SURF1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - mitochondrial / Broader phenotype: Leigh syndrome with neuropathy
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	SUCLA2	Louise Daugherty commented on gene: SUCLA2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: Leigh-like syndrome, neuropathy 'in a minority of patients'
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	SPG7	Louise Daugherty commented on gene: SPG7: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype submitted by Alex Rossor, but 2 reviews say no clear association with neuropathy
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	SPAST	Louise Daugherty commented on gene: SPAST: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - HSP with neuropathy / Broader phenotype (HSP)
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	SOX10	Louise Daugherty commented on gene: SOX10: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH (Shah-Waardenburg syndrome, neurologic variant)
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	SLC25A46	Louise Daugherty commented on gene: SLC25A46: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	SLC25A19	Louise Daugherty commented on gene: SLC25A19: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - epilepsy/encephalopathy with neuropathy / Broader phenotype: episodic encephalopathy with progressive axonal neuropathy; common mutation in Amish and 1 other unrelated family in OMIM
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	SCYL1	Louise Daugherty commented on gene: SCYL1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope but limited evidence / Overlap: SCA21 - 2 cases in OMIM, sufficient evidence?
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	SCN10A	Louise Daugherty edited their review of gene: SCN10A: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Episodic pain syndrome - within scope of panel? 2 cases het missense variants (1 segregating in 2 family members) and functional evidence in OMIM - sufficient for Green if within scope? If SCN9A is on the panel then this and similar genes should be on too. Recommend Green; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	SCARB2	Louise Daugherty commented on gene: SCARB2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: epilepsy and renal failure, 'rarely' sensorimotor neuropathy
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	PTRH2	Louise Daugherty commented on gene: PTRH2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope but limited evidence / Broad phenotype but limited evidence? Only 2 cases in OMIM
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	PTPN11	Louise Daugherty commented on gene: PTPN11: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broad phenotype - Noonan syndrome - is hypertrophic neuropathy an important feature?
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	PTEN	Louise Daugherty commented on gene: PTEN: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broad phenotype - is neuropathy a common feature?
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	PRKCG	Louise Daugherty commented on gene: PRKCG: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Neuropathy rare feature - Amber
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	POLR3A	Louise Daugherty commented on gene: POLR3A: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - ataxia with neuropathy / Broader phenotype: spastic ataxia with abnormal nerve conduction in 8/14 cases
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	PNPLA6	Louise Daugherty commented on gene: PNPLA6: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: Natalie no evidence of clear association with neuropathy
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	PNKP	Louise Daugherty commented on gene: PNKP: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	PMM2	Louise Daugherty commented on gene: PMM2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: CDG1a
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	PLP1	Louise Daugherty commented on gene: PLP1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: Pelizaeus-Merbacher/Spastic paraplegia 2 - is neuropathy a feature?
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	PEX10	Louise Daugherty commented on gene: PEX10: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: Zellweger, is neuropathy only associated with this gene?
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	PDYN	Louise Daugherty commented on gene: PDYN: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: SCA with mild neuropathy
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	OPA3	Louise Daugherty commented on gene: OPA3: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: 3-methylglutaconic aciduria type III
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	OPA1	Louise Daugherty commented on gene: OPA1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - mitochondrial / Broader mitochondrial phenotype
07 Dec 2019	Hereditary neuropathy or pain disorder v0.86	NAGA	Louise Daugherty commented on gene: NAGA: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: Schindler disease
06 Dec 2019	Hereditary neuropathy or pain disorder v0.85	SCN10A	Louise Daugherty Classified gene: SCN10A as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.85	SCN10A	Louise Daugherty Gene: scn10a has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	ZFYVE26	Louise Daugherty commented on gene: ZFYVE26: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	XRCC1	Louise Daugherty commented on gene: XRCC1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	XPA	Louise Daugherty commented on gene: XPA: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	XK	Louise Daugherty commented on gene: XK: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	VPS13A	Louise Daugherty commented on gene: VPS13A: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	VCP	Louise Daugherty commented on gene: VCP: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	TWNK	Louise Daugherty commented on gene: TWNK: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	TTPA	Louise Daugherty commented on gene: TTPA: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	TRPA1	Louise Daugherty commented on gene: TRPA1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	SURF1	Louise Daugherty commented on gene: SURF1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	SUCLA2	Louise Daugherty commented on gene: SUCLA2: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	SPG7	Louise Daugherty commented on gene: SPG7: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	SPAST	Louise Daugherty commented on gene: SPAST: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	SOX10	Louise Daugherty commented on gene: SOX10: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	SLC25A46	Louise Daugherty commented on gene: SLC25A46: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	SLC25A19	Louise Daugherty commented on gene: SLC25A19: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	SCYL1	Louise Daugherty commented on gene: SCYL1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	SCN10A	Louise Daugherty commented on gene: SCN10A: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	SCARB2	Louise Daugherty commented on gene: SCARB2: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	PTRH2	Louise Daugherty commented on gene: PTRH2: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	PTPN11	Louise Daugherty commented on gene: PTPN11: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	PTEN	Louise Daugherty commented on gene: PTEN: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	PRKCG	Louise Daugherty commented on gene: PRKCG: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	POLR3A	Louise Daugherty commented on gene: POLR3A: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	PNPLA6	Louise Daugherty commented on gene: PNPLA6: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	PNKP	Louise Daugherty commented on gene: PNKP: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	PMM2	Louise Daugherty commented on gene: PMM2: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	PLP1	Louise Daugherty commented on gene: PLP1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	PEX10	Louise Daugherty commented on gene: PEX10: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	PDYN	Louise Daugherty commented on gene: PDYN: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	OPA3	Louise Daugherty commented on gene: OPA3: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	OPA1	Louise Daugherty commented on gene: OPA1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.84	NAGA	Louise Daugherty commented on gene: NAGA: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	SLC25A19	Louise Daugherty Deleted their comment
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	ZFYVE26	Louise Daugherty Source Expert Review Amber was added to ZFYVE26. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	XRCC1	Louise Daugherty Source Expert Review Amber was added to XRCC1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	XPA	Louise Daugherty Source Expert Review Amber was added to XPA. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	XK	Louise Daugherty Source Expert Review Amber was added to XK. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	VPS13A	Louise Daugherty Source Expert Review Amber was added to VPS13A. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	VCP	Louise Daugherty Source Expert Review Amber was added to VCP. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	TWNK	Louise Daugherty Source Expert Review Amber was added to TWNK. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	TTPA	Louise Daugherty Source Expert Review Amber was added to TTPA. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	TRPA1	Louise Daugherty Source Expert Review Amber was added to TRPA1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	SURF1	Louise Daugherty Source Expert Review Amber was added to SURF1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	SUCLA2	Louise Daugherty Source Expert Review Amber was added to SUCLA2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	SPG7	Louise Daugherty Source Expert Review Amber was added to SPG7. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	SPAST	Louise Daugherty Source Expert Review Amber was added to SPAST. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	SOX10	Louise Daugherty Source Expert Review Amber was added to SOX10. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	SLC25A46	Louise Daugherty Source Expert Review Amber was added to SLC25A46. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	SLC25A19	Louise Daugherty Source Expert Review Amber was added to SLC25A19. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	SCYL1	Louise Daugherty Source Expert Review Amber was added to SCYL1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	SCN10A	Louise Daugherty Source Expert Review Amber was added to SCN10A. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	SCARB2	Louise Daugherty Source Expert Review Amber was added to SCARB2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	PTRH2	Louise Daugherty Source Expert Review Amber was added to PTRH2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	PTPN11	Louise Daugherty Source Expert Review Amber was added to PTPN11. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	PTEN	Louise Daugherty Source Expert Review Amber was added to PTEN. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	PRKCG	Louise Daugherty Source Expert Review Amber was added to PRKCG. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	POLR3A	Louise Daugherty Source Expert Review Amber was added to POLR3A. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	PNPLA6	Louise Daugherty Source Expert Review Amber was added to PNPLA6. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	PNKP	Louise Daugherty Source Expert Review Amber was added to PNKP. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	PMM2	Louise Daugherty Source Expert Review Amber was added to PMM2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	PLP1	Louise Daugherty Source Expert Review Amber was added to PLP1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	PEX10	Louise Daugherty Source Expert Review Amber was added to PEX10. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	PDYN	Louise Daugherty Source Expert Review Amber was added to PDYN. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	OPA3	Louise Daugherty Source Expert Review Amber was added to OPA3. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	OPA1	Louise Daugherty Source Expert Review Amber was added to OPA1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.83	NAGA	Louise Daugherty Source Expert Review Amber was added to NAGA. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.82	MYH14	Louise Daugherty commented on gene: MYH14: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Hearing loss enough evidence for Green; 1 family with hearing loss & neuropathy in literature, are there additional unpublished families?
06 Dec 2019	Hereditary neuropathy or pain disorder v0.82	MYH14	Louise Daugherty Classified gene: MYH14 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.82	MYH14	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.82	MYH14	Louise Daugherty Gene: myh14 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.81	MTTP	Louise Daugherty commented on gene: MTTP: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Causes a progressive sensory neuropathy related to vitamin E deficiency as part of a complex multisystem disorder
06 Dec 2019	Hereditary neuropathy or pain disorder v0.81	MTTP	Louise Daugherty Classified gene: MTTP as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.81	MTTP	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.81	MTTP	Louise Daugherty Gene: mttp has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.80	MT-TL1	Louise Daugherty commented on gene: MT-TL1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Broader phenotype but mitochondrial gene (MELAS) - discuss
06 Dec 2019	Hereditary neuropathy or pain disorder v0.80	MT-TL1	Louise Daugherty Classified gene: MT-TL1 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.80	MT-TL1	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.80	MT-TL1	Louise Daugherty Gene: mt-tl1 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.79	MT-RNR1	Louise Daugherty commented on gene: MT-RNR1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Broader phenotype but mitochondrial gene - discuss
06 Dec 2019	Hereditary neuropathy or pain disorder v0.79	MT-RNR1	Louise Daugherty Classified gene: MT-RNR1 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.79	MT-RNR1	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.79	MT-RNR1	Louise Daugherty Gene: mt-rnr1 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.78	MMACHC	Louise Daugherty commented on gene: MMACHC: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - methylmalonic acidemia & homcysteinuria
06 Dec 2019	Hereditary neuropathy or pain disorder v0.78	MMACHC	Louise Daugherty Classified gene: MMACHC as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.78	MMACHC	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.78	MMACHC	Louise Daugherty Gene: mmachc has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.77	LYST	Louise Daugherty commented on gene: LYST: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Chediak-Higashi (albinism, immune deficiency)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.77	LYST	Louise Daugherty Classified gene: LYST as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.77	LYST	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.77	LYST	Louise Daugherty Gene: lyst has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.76	KCNA2	Louise Daugherty commented on gene: KCNA2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Broader phenotype - epilepsy & ataxia, neuropathy only in one family - is neuropathy a consistent feature?
06 Dec 2019	Hereditary neuropathy or pain disorder v0.76	KCNA2	Louise Daugherty Classified gene: KCNA2 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.76	KCNA2	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.76	KCNA2	Louise Daugherty Gene: kcna2 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.75	IARS2	Louise Daugherty commented on gene: IARS2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Broader phenotype
06 Dec 2019	Hereditary neuropathy or pain disorder v0.75	IARS2	Louise Daugherty Classified gene: IARS2 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.75	IARS2	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.75	IARS2	Louise Daugherty Gene: iars2 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.74	PPOX	Louise Daugherty commented on gene: PPOX: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype: variegate porphyria. As per CPOX usually presents more acutely but management implications. Promote to Green as management implications
06 Dec 2019	Hereditary neuropathy or pain disorder v0.74	PPOX	Louise Daugherty Classified gene: PPOX as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.74	PPOX	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.74	PPOX	Louise Daugherty Gene: ppox has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.73	HMBS	Louise Daugherty commented on gene: HMBS: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - acute intermittent porphyria As per CPOX usually presents more acutely but management implications. Promote to Green as management implications
06 Dec 2019	Hereditary neuropathy or pain disorder v0.73	CPOX	Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - porphyria, can present similar to AIP according to Alex Promote to Green as management implications; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - porphyria, can present similar to AIP according to Alex Rossor. Promote to Green as management implications
06 Dec 2019	Hereditary neuropathy or pain disorder v0.73	HMBS	Louise Daugherty Classified gene: HMBS as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.73	HMBS	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.73	HMBS	Louise Daugherty Gene: hmbs has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.72	HADHB	Louise Daugherty commented on gene: HADHB: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Broader phenotype - mitochondrial trifunctional protein deficiency
06 Dec 2019	Hereditary neuropathy or pain disorder v0.72	HADHB	Louise Daugherty Classified gene: HADHB as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.72	HADHB	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.72	HADHB	Louise Daugherty Gene: hadhb has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.71	HADHA	Louise Daugherty commented on gene: HADHA: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Broader phenotype - mitochondrial trifunctional protein deficiency
06 Dec 2019	Hereditary neuropathy or pain disorder v0.71	HADHA	Louise Daugherty Classified gene: HADHA as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.71	HADHA	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.71	HADHA	Louise Daugherty Gene: hadha has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.70	GJC2	Louise Daugherty commented on gene: GJC2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - HSP with neuropathy / Broader phenotype - HSP/hypomyelinating leucodystrophy with neuropathy
06 Dec 2019	Hereditary neuropathy or pain disorder v0.70	GJC2	Louise Daugherty Classified gene: GJC2 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.70	GJC2	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.70	GJC2	Louise Daugherty Gene: gjc2 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.69	GBA2	Louise Daugherty commented on gene: GBA2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - HSP with neuropathy / Broader phenotype - HSP with neuropathy
06 Dec 2019	Hereditary neuropathy or pain disorder v0.69	GBA2	Louise Daugherty Classified gene: GBA2 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.69	GBA2	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.69	GBA2	Louise Daugherty Gene: gba2 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.68	TYMP	Louise Daugherty commented on gene: TYMP: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.68	TYMP	Louise Daugherty Classified gene: TYMP as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.68	TYMP	Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.68	TYMP	Louise Daugherty Gene: tymp has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.67	TUBB3	Louise Daugherty commented on gene: TUBB3: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.67	TUBB3	Louise Daugherty Classified gene: TUBB3 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.67	TUBB3	Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.67	TUBB3	Louise Daugherty Gene: tubb3 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.66	SLC12A6	Louise Daugherty Classified gene: SLC12A6 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.66	SLC12A6	Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.66	SLC12A6	Louise Daugherty Gene: slc12a6 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.65	SLC12A6	Louise Daugherty commented on gene: SLC12A6: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.65	SACS	Louise Daugherty Classified gene: SACS as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.65	SACS	Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.65	SACS	Louise Daugherty Gene: sacs has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.64	SACS	Louise Daugherty commented on gene: SACS: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.64	POLG	Louise Daugherty Classified gene: POLG as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.64	POLG	Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.64	POLG	Louise Daugherty Gene: polg has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.63	POLG	Louise Daugherty commented on gene: POLG: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.63	PHYH	Louise Daugherty commented on gene: PHYH: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.63	PEX7	Louise Daugherty commented on gene: PEX7: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.63	PDHA1	Louise Daugherty commented on gene: PDHA1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.63	GLA	Louise Daugherty commented on gene: GLA: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.63	GAN	Louise Daugherty commented on gene: GAN: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.63	PHYH	Louise Daugherty Classified gene: PHYH as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.63	PHYH	Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.63	PHYH	Louise Daugherty Gene: phyh has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.62	PEX7	Louise Daugherty Classified gene: PEX7 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.62	PEX7	Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.62	PEX7	Louise Daugherty Gene: pex7 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.61	PDHA1	Louise Daugherty Classified gene: PDHA1 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.61	PDHA1	Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.61	PDHA1	Louise Daugherty Gene: pdha1 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.60	GLA	Louise Daugherty Classified gene: GLA as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.60	GLA	Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.60	GLA	Louise Daugherty Gene: gla has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.59	GAN	Louise Daugherty Classified gene: GAN as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.59	GAN	Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.59	GAN	Louise Daugherty Gene: gan has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.58	GALC	Louise Daugherty commented on gene: GALC: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Krabbe disease
06 Dec 2019	Hereditary neuropathy or pain disorder v0.58	GALC	Louise Daugherty Classified gene: GALC as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.58	GALC	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.58	GALC	Louise Daugherty Gene: galc has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.57	FXN	Louise Daugherty commented on gene: FXN: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Rate as Green if STR Green Should be on ataxia panels
06 Dec 2019	Hereditary neuropathy or pain disorder v0.57	FXN	Louise Daugherty Classified gene: FXN as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.57	FXN	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.57	FXN	Louise Daugherty Gene: fxn has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.56	FLVCR1	Louise Daugherty commented on gene: FLVCR1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Broader phenotype - ataxia & RP. Agree more suited to ataxia panel
06 Dec 2019	Hereditary neuropathy or pain disorder v0.56	FLVCR1	Louise Daugherty Classified gene: FLVCR1 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.56	FLVCR1	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.56	FLVCR1	Louise Daugherty Gene: flvcr1 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.55	FBXO38	Louise Daugherty commented on gene: FBXO38: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / SMA - limited evidence, some functional work but not strong - Amber? 2 families one very large segregating gene, possibly green if test Group supports rating?
06 Dec 2019	Hereditary neuropathy or pain disorder v0.55	FBXO38	Louise Daugherty Classified gene: FBXO38 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.55	FBXO38	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.55	FBXO38	Louise Daugherty Gene: fbxo38 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.54	FAM126A	Louise Daugherty commented on gene: FAM126A: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype: leukodystrophy
06 Dec 2019	Hereditary neuropathy or pain disorder v0.54	FAM126A	Louise Daugherty Classified gene: FAM126A as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.54	FAM126A	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.54	FAM126A	Louise Daugherty Gene: fam126a has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.53	FAH	Louise Daugherty commented on gene: FAH: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype: Tyrosinemia, acute episodes of neuropathy similar to AIP
06 Dec 2019	Hereditary neuropathy or pain disorder v0.53	FAH	Louise Daugherty Classified gene: FAH as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.53	FAH	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.53	FAH	Louise Daugherty Gene: fah has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.52	ETFDH	Louise Daugherty commented on gene: ETFDH: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Broader phenotype: Glutaric acidemia IIc - minor feature
06 Dec 2019	Hereditary neuropathy or pain disorder v0.52	ETFDH	Louise Daugherty Classified gene: ETFDH as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.52	ETFDH	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.52	ETFDH	Louise Daugherty Gene: etfdh has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.51	ERCC8	Louise Daugherty commented on gene: ERCC8: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Cockayne syndrome
06 Dec 2019	Hereditary neuropathy or pain disorder v0.51	ERCC8	Louise Daugherty Classified gene: ERCC8 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.51	ERCC8	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.51	ERCC8	Louise Daugherty Gene: ercc8 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.50	ERCC6	Louise Daugherty commented on gene: ERCC6: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Cockayne syndrome
06 Dec 2019	Hereditary neuropathy or pain disorder v0.50	ERCC6	Louise Daugherty Classified gene: ERCC6 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.50	ERCC6	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.50	ERCC6	Louise Daugherty Gene: ercc6 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.49	ELP1	Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Familial dysautonomia - appropriate for panel Keep green; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Familial dysautonomia - appropriate for panel. autonomic neuropathy - relevant to both panels (narrow and broad). Keep green
06 Dec 2019	Hereditary neuropathy or pain disorder v0.49	ELP1	Louise Daugherty commented on gene: ELP1: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Familial dysautonomia - appropriate for panel Keep green
06 Dec 2019	Hereditary neuropathy or pain disorder v0.49	ELP1	Louise Daugherty edited their review of gene: ELP1: Added comment: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.; Changed rating: GREEN
06 Dec 2019	Hereditary neuropathy or pain disorder v0.49	DNAJC3	Louise Daugherty commented on gene: DNAJC3: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Broader phenotype - ataxia & hearing loss - only 1 family in OMIM - more evidence? Complex disorder not pure neuropathy
06 Dec 2019	Hereditary neuropathy or pain disorder v0.49	DNAJC3	Louise Daugherty Classified gene: DNAJC3 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.49	DNAJC3	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.49	DNAJC3	Louise Daugherty Gene: dnajc3 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.48	CYP27A1	Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca). Although Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis, it was noted that it was good to pick up early; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca). Although Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis, it was noted that it was good to pick up early so advised Green rating over Amber for R57 panel
06 Dec 2019	Hereditary neuropathy or pain disorder v0.48	CYP27A1	Louise Daugherty edited their review of gene: CYP27A1: Changed rating: GREEN
06 Dec 2019	Hereditary neuropathy or pain disorder v0.48	CYP27A1	Louise Daugherty changed review comment from: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca). Although Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis, it was noted that it was good to pick up early
06 Dec 2019	Hereditary neuropathy or pain disorder v0.48	CYP27A1	Louise Daugherty Classified gene: CYP27A1 as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.48	CYP27A1	Louise Daugherty Gene: cyp27a1 has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.47	DEGS1	Louise Daugherty commented on gene: DEGS1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - leukodystrophy with neuropathy
06 Dec 2019	Hereditary neuropathy or pain disorder v0.47	DEGS1	Louise Daugherty Classified gene: DEGS1 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.47	DEGS1	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.47	DEGS1	Louise Daugherty Gene: degs1 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.46	DARS2	Louise Daugherty commented on gene: DARS2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Mitochondrial gene - extension to phenotype to include isolated neuropathy
06 Dec 2019	Hereditary neuropathy or pain disorder v0.46	DARS2	Louise Daugherty Classified gene: DARS2 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.46	DARS2	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.46	DARS2	Louise Daugherty Gene: dars2 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.45	CYP27A1	Louise Daugherty commented on gene: CYP27A1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis
06 Dec 2019	Hereditary neuropathy or pain disorder v0.45	CYP27A1	Louise Daugherty Classified gene: CYP27A1 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.45	CYP27A1	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.45	CYP27A1	Louise Daugherty Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.44	CTDP1	Louise Daugherty commented on gene: CTDP1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype (dysmorphic, cataract) - founder mutation in Roma populations, intronic
06 Dec 2019	Hereditary neuropathy or pain disorder v0.44	CTDP1	Louise Daugherty Classified gene: CTDP1 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.44	CTDP1	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.44	CTDP1	Louise Daugherty Gene: ctdp1 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.43	CPOX	Louise Daugherty Classified gene: CPOX as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.43	CPOX	Louise Daugherty Gene: cpox has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.42	CPOX	Louise Daugherty edited their review of gene: CPOX: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - porphyria, can present similar to AIP according to Alex Promote to Green as management implications; Changed rating: GREEN
06 Dec 2019	Hereditary neuropathy or pain disorder v0.42	CPOX	Louise Daugherty Classified gene: CPOX as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.42	CPOX	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.42	CPOX	Louise Daugherty Gene: cpox has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.41	COA7	Louise Daugherty commented on gene: COA7: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope - ataxia with neuropathy / Broader phenotype - SCA with axonal neuropathy
06 Dec 2019	Hereditary neuropathy or pain disorder v0.41	COA7	Louise Daugherty Classified gene: COA7 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.41	COA7	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.41	COA7	Louise Daugherty Gene: coa7 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.40	WARS	Louise Daugherty edited their review of gene: WARS: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green/ Additional evidence: 3 cases in literature with same variant on diff haplotypes and postulated dom neg effect; Changed rating: GREEN
06 Dec 2019	Hereditary neuropathy or pain disorder v0.40	VRK1	Louise Daugherty changed review comment from: Gene rated Green: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) New evidence/re-evaluation of evidence - promotion to Green / Additional evidence: PMID:30847374 cites 2 other cases with neuropathy & unpublished evidence; to: Gene rated Amber: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) New evidence/re-evaluation of evidence - promotion to Green / Additional evidence: PMID:30847374 cites 2 other cases with neuropathy & unpublished evidence.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.40	VRK1	Louise Daugherty Classified gene: VRK1 as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.40	VRK1	Louise Daugherty Gene: vrk1 has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.39	VRK1	Louise Daugherty commented on gene: VRK1: Gene rated Green: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) New evidence/re-evaluation of evidence - promotion to Green / Additional evidence: PMID:30847374 cites 2 other cases with neuropathy & unpublished evidence
06 Dec 2019	Hereditary neuropathy or pain disorder v0.39	TRIM2	Louise Daugherty Classified gene: TRIM2 as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.39	TRIM2	Louise Daugherty Gene: trim2 has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.38	TRIM2	Louise Daugherty commented on gene: TRIM2: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / Consider for Green with functional data? 2 families with missense variants; no new publications since 2015
06 Dec 2019	Hereditary neuropathy or pain disorder v0.38	SYT2	Louise Daugherty changed review comment from: Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). Congenital myasthenia gene; currently Green on Congenital myaesthenic syndrome Panel so recommend leave as Red on the R78 panel, but promote to Green on larger panel for WGS; to: Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). 3 families and functional data according to Natalie's review but more of a myastheia phenotype but overlaps with CMT . Congenital myasthenia gene; currently Green on Congenital myaesthenic syndrome Panel so recommend leave as Red on the R78 panel, but promote to Green on larger panel for WGS.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.38	SYT2	Louise Daugherty Classified gene: SYT2 as Red List (low evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.38	SYT2	Louise Daugherty Gene: syt2 has been classified as Red List (Low Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	SYT2	Louise Daugherty changed review comment from: Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). Congenital myasthenia gene; currently Red on congenital myasthenic syndrome panel but Oxford have given Green review for that panel so suggest promote on the congenital myasthenic syndrome panel, leave as Red on the R78 panel, but promote to Green on larger panel for WGS; to: Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). Congenital myasthenia gene; currently Green on Congenital myaesthenic syndrome Panel so recommend leave as Red on the R78 panel, but promote to Green on larger panel for WGS
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	SYT2	Louise Daugherty commented on gene: SYT2: Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). Congenital myasthenia gene; currently Red on congenital myasthenic syndrome panel but Oxford have given Green review for that panel so suggest promote on the congenital myasthenic syndrome panel, leave as Red on the R78 panel, but promote to Green on larger panel for WGS
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	PRNP	Louise Daugherty changed review comment from: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype. AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel; to: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype. Alex Rossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that Alex Rossor provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	SETX	Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / James Polke Red review but no comment?? Pretty rare for this to present as a dominant juvenile ALS phenotype but three different mutations reported. Probably reasonable to keep as green but presumably in ALS panel; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / James Polke Red review but no comment?? Pretty rare for this to present as a dominant juvenile ALS phenotype but three different mutations reported. Probably reasonable to keep as green but presumably in ALS panel. SETX had been reviewed by James Polke as Red but he had not left a comment, since he was not on the call, agreed that this gene be left as Green unless James provides an explanation for his Red review
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	SETX	Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / James Polke Red review but no comment?? Pretty rare for this to present as a dominant juvenile ALS phenotype but three different mutations reported. Probably reasonable to keep as green but presumably in ALS panel; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / James Polke Red review but no comment?? Pretty rare for this to present as a dominant juvenile ALS phenotype but three different mutations reported. Probably reasonable to keep as green but presumably in ALS panel
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	PRNP	Louise Daugherty changed review comment from: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype; to: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype. AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	PRNP	Louise Daugherty changed review comment from: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/. AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel; to: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	SLC5A7	Louise Daugherty edited their review of gene: SLC5A7: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green? / Limited evidence? See Natalie review but AR says multiple families; Changed rating: GREEN
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	SETX	Louise Daugherty edited their review of gene: SETX: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / James Polke Red review but no comment?? Pretty rare for this to present as a dominant juvenile ALS phenotype but three different mutations reported. Probably reasonable to keep as green but presumably in ALS panel; Changed rating: GREEN
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	SBF1	Louise Daugherty edited their review of gene: SBF1: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / New evidence: 1 more family - promote to Green; Changed rating: GREEN
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	PRNP	Louise Daugherty edited their review of gene: PRNP: Changed rating: RED
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	PRNP	Louise Daugherty commented on gene: PRNP: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	PMP2	Louise Daugherty edited their review of gene: PMP2: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / New evidence - green; Changed rating: GREEN
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	NEFH	Louise Daugherty commented on gene: NEFH: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green? / New CMT gene, 2 families & functional evidence in OMIM
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	NEFH	Louise Daugherty edited their review of gene: NEFH: Changed rating: GREEN
06 Dec 2019	Hereditary neuropathy or pain disorder v0.37	MCM3AP	Louise Daugherty Publications for gene: MCM3AP were set to
06 Dec 2019	Hereditary neuropathy or pain disorder v0.36	MCM3AP	Louise Daugherty edited their review of gene: MCM3AP: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) New evidence/re-evaluation of evidence - promotion to Green/ New evidence - PMID:28633435; Changed rating: GREEN
06 Dec 2019	Hereditary neuropathy or pain disorder v0.36	GNB4	Louise Daugherty edited their review of gene: GNB4: Changed rating: GREEN
06 Dec 2019	Hereditary neuropathy or pain disorder v0.36	GNB4	Louise Daugherty commented on gene: GNB4: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / CMT - new evidence Agree promote to Green
06 Dec 2019	Hereditary neuropathy or pain disorder v0.36	DST	Louise Daugherty edited their review of gene: DST: Changed rating: GREEN
06 Dec 2019	Hereditary neuropathy or pain disorder v0.36	DST	Louise Daugherty commented on gene: DST: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) . New evidence/re-evaluation of evidence - promotion to Green / New evidence - upgrade to Green? New evidence promote to Green
06 Dec 2019	Hereditary neuropathy or pain disorder v0.36	DRP2	Louise Daugherty commented on gene: DRP2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green? 2 cases but functional studies don't show features of neuropathy - Amber? More evidence needed
06 Dec 2019	Hereditary neuropathy or pain disorder v0.36	DNAJB2	Louise Daugherty commented on gene: DNAJB2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ Green for larger panel only as main phenotype is distal SMA; AR to provide further references
06 Dec 2019	Hereditary neuropathy or pain disorder v0.36	DCTN1	Louise Daugherty edited their review of gene: DCTN1: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) . New evidence/re-evaluation of evidence - promotion to Green / New evidence - upgrade to Green; Changed rating: GREEN
06 Dec 2019	Hereditary neuropathy or pain disorder v0.36	DCTN1	Louise Daugherty Classified gene: DCTN1 as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.36	DCTN1	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.36	DCTN1	Louise Daugherty Gene: dctn1 has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.35	ATP1A1	Louise Daugherty edited their review of gene: ATP1A1: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / New gene - 7 unrelated families (2018) Agree promote to Green; Changed rating: GREEN
06 Dec 2019	Hereditary neuropathy or pain disorder v0.35	ARHGEF10	Louise Daugherty commented on gene: ARHGEF10: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / One published family plus functional evidence (NB. Bristol review although Green acknowledges limited evidence) - demote
06 Dec 2019	Hereditary neuropathy or pain disorder v0.35	ATL3	Louise Daugherty commented on gene: ATL3: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / Limited evidence highlighted by Natalie - same variant in 2 families and other variant didn't segregate - downgrade to Amber? Agree downgrade due to lack of evidence
06 Dec 2019	Hereditary neuropathy or pain disorder v0.35	CNTNAP1	Louise Daugherty commented on gene: CNTNAP1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - congenital hypomyelinating neuropathy, arthrogryposis, severe dev delay
06 Dec 2019	Hereditary neuropathy or pain disorder v0.35	CNTNAP1	Louise Daugherty Classified gene: CNTNAP1 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.35	CNTNAP1	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.35	CNTNAP1	Louise Daugherty Gene: cntnap1 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.34	CD59	Louise Daugherty commented on gene: CD59: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype: haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy
06 Dec 2019	Hereditary neuropathy or pain disorder v0.34	CD59	Louise Daugherty Classified gene: CD59 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.34	CD59	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.34	CD59	Louise Daugherty Gene: cd59 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.33	C12orf65	Louise Daugherty Classified gene: C12orf65 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.33	C12orf65	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.33	C12orf65	Louise Daugherty Gene: c12orf65 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.32	BCKDHB	Louise Daugherty commented on gene: BCKDHB: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Maple syrup urine disease
06 Dec 2019	Hereditary neuropathy or pain disorder v0.32	BCKDHB	Louise Daugherty Classified gene: BCKDHB as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.32	BCKDHB	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.32	BCKDHB	Louise Daugherty Gene: bckdhb has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.31	BAG3	Louise Daugherty commented on gene: BAG3: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - myopathy with neuropathy / Broader phenotype - not reviewed by Alex in this round but previously reviewed as Green; myofibrillar myopathy, sufficient evidence for neuropathy?
06 Dec 2019	Hereditary neuropathy or pain disorder v0.31	BAG3	Louise Daugherty Classified gene: BAG3 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.31	BAG3	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.31	BAG3	Louise Daugherty Gene: bag3 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.30	B4GALNT1	Louise Daugherty commented on gene: B4GALNT1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - HSP with neuropathy / Broader phenotype: HSP gene but can be associated with neuropathy.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.30	B4GALNT1	Louise Daugherty Classified gene: B4GALNT1 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.30	B4GALNT1	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.30	B4GALNT1	Louise Daugherty Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.29	ATM	Louise Daugherty commented on gene: ATM: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Broader phenotype - biallelic only (cancer risk)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.29	ATM	Louise Daugherty Classified gene: ATM as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.29	ATM	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.29	ATM	Louise Daugherty Gene: atm has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.28	ARSA	Louise Daugherty commented on gene: ARSA: Gene rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Metachromatic leukodystrophy - broader phenotype
06 Dec 2019	Hereditary neuropathy or pain disorder v0.28	ARSA	Louise Daugherty Classified gene: ARSA as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.28	ARSA	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.28	ARSA	Louise Daugherty Gene: arsa has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.27	APTX	Louise Daugherty commented on gene: APTX: Gene remains rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Broader phenotype: Ataxia with oculomotor apraxia
06 Dec 2019	Hereditary neuropathy or pain disorder v0.27	APTX	Louise Daugherty edited their review of gene: APTX: Changed rating: AMBER
06 Dec 2019	Hereditary neuropathy or pain disorder v0.27	APTX	Louise Daugherty Classified gene: APTX as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.27	APTX	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.27	APTX	Louise Daugherty Gene: aptx has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.26	APOA1	Louise Daugherty Classified gene: APOA1 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.26	APOA1	Louise Daugherty Gene: apoa1 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.25	APOA1	Louise Daugherty commented on gene: APOA1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.25	APOA1	Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).. Extension of panel scope - minor feature. Amyloidosis - most cases visceral amyloidosis but 1 family with neurological phenotype- rate Red. R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).. Extension of panel scope - minor feature. Amyloidosis - most cases visceral amyloidosis but 1 family with neurological phenotype- rate Red.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.25	APOA1	Louise Daugherty edited their review of gene: APOA1: Changed rating: AMBER
06 Dec 2019	Hereditary neuropathy or pain disorder v0.25	AP1S1	Louise Daugherty Classified gene: AP1S1 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.25	AP1S1	Louise Daugherty Gene: ap1s1 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.24	AP1S1	Louise Daugherty commented on gene: AP1S1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.24	AP1S1	Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma - OMIM 4 families from Quebec with same splice site mutation - rated Red R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated as Amber: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma - OMIM 4 families from Quebec with same splice site mutation
06 Dec 2019	Hereditary neuropathy or pain disorder v0.24	AP1S1	Louise Daugherty edited their review of gene: AP1S1: Changed rating: AMBER
06 Dec 2019	Hereditary neuropathy or pain disorder v0.24	AGXT	Louise Daugherty edited their review of gene: AGXT: Changed rating: AMBER
06 Dec 2019	Hereditary neuropathy or pain disorder v0.24	AGXT	Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Gene well established to cause PH1 Primary Hyperoxaluria (green). 2 reports of neuropathy - enough cases?- rated Red R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated Amber: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Gene well established to cause PH1 Primary Hyperoxaluria (green). 2 reports of neuropathy - enough cases?
06 Dec 2019	Hereditary neuropathy or pain disorder v0.24	AGXT	Louise Daugherty Classified gene: AGXT as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.24	AGXT	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.24	AGXT	Louise Daugherty Gene: agxt has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.23	ABHD12	Louise Daugherty edited their review of gene: ABHD12: Changed rating: AMBER
06 Dec 2019	Hereditary neuropathy or pain disorder v0.23	AGTPBP1	Louise Daugherty edited their review of gene: AGTPBP1: Changed rating: AMBER
06 Dec 2019	Hereditary neuropathy or pain disorder v0.23	ABHD12	Louise Daugherty Classified gene: ABHD12 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.23	ABHD12	Louise Daugherty Gene: abhd12 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.22	AGTPBP1	Louise Daugherty Classified gene: AGTPBP1 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.22	AGTPBP1	Louise Daugherty Gene: agtpbp1 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.21	AGTPBP1	Louise Daugherty commented on gene: AGTPBP1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.21	AGTPBP1	Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID - rated Red. R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID
06 Dec 2019	Hereditary neuropathy or pain disorder v0.21	ABCA1	Louise Daugherty commented on gene: ABCA1: The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/
06 Dec 2019	Hereditary neuropathy or pain disorder v0.21	ABCA1	Louise Daugherty changed review comment from: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL. The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/ ; to: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.21	ABHD12	Louise Daugherty changed review comment from: Gene remains rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red. ; to: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
06 Dec 2019	Hereditary neuropathy or pain disorder v0.21	ABHD12	Louise Daugherty commented on gene: ABHD12: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.21	ABHD12	Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red. R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.21	WARS	Louise Daugherty commented on gene: WARS: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.21	VRK1	Louise Daugherty commented on gene: VRK1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.21	TRIM2	Louise Daugherty Classified gene: TRIM2 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.21	TRIM2	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.21	TRIM2	Louise Daugherty Gene: trim2 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.20	SYT2	Louise Daugherty commented on gene: SYT2: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.20	SLC5A7	Louise Daugherty Classified gene: SLC5A7 as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.20	SLC5A7	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.20	SLC5A7	Louise Daugherty Gene: slc5a7 has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.19	SETX	Louise Daugherty commented on gene: SETX: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.19	SBF1	Louise Daugherty Classified gene: SBF1 as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.19	SBF1	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.19	SBF1	Louise Daugherty Gene: sbf1 has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.18	PRNP	Louise Daugherty Classified gene: PRNP as Red List (low evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.18	PRNP	Louise Daugherty Gene: prnp has been classified as Red List (Low Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.17	PRNP	Louise Daugherty Classified gene: PRNP as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.17	PRNP	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/. AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel
06 Dec 2019	Hereditary neuropathy or pain disorder v0.17	PRNP	Louise Daugherty Gene: prnp has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.16	PMP2	Louise Daugherty Classified gene: PMP2 as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.16	PMP2	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.16	PMP2	Louise Daugherty Gene: pmp2 has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.15	NEFH	Louise Daugherty Classified gene: NEFH as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.15	NEFH	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.15	NEFH	Louise Daugherty Gene: nefh has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.14	MCM3AP	Louise Daugherty Classified gene: MCM3AP as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.14	MCM3AP	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.14	MCM3AP	Louise Daugherty Gene: mcm3ap has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.13	GNB4	Louise Daugherty Classified gene: GNB4 as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.13	GNB4	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.13	GNB4	Louise Daugherty Gene: gnb4 has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.12	DST	Louise Daugherty Classified gene: DST as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.12	DST	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.12	DST	Louise Daugherty Gene: dst has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.11	DRP2	Louise Daugherty Classified gene: DRP2 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.11	DRP2	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.11	DRP2	Louise Daugherty Gene: drp2 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.10	DNAJB2	Louise Daugherty Classified gene: DNAJB2 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.10	DNAJB2	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.10	DNAJB2	Louise Daugherty Gene: dnajb2 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.9	ATP1A1	Louise Daugherty Classified gene: ATP1A1 as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.9	ATP1A1	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.9	ATP1A1	Louise Daugherty Gene: atp1a1 has been classified as Green List (High Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.8	ATL3	Louise Daugherty Classified gene: ATL3 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.8	ATL3	Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.8	ATL3	Louise Daugherty Gene: atl3 has been classified as Amber List (Moderate Evidence).
06 Dec 2019	Hereditary neuropathy or pain disorder v0.7	ARHGEF10	Louise Daugherty changed review comment from: Comment on list classification: The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.; to: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.7	ARHGEF10	Louise Daugherty Classified gene: ARHGEF10 as Amber List (moderate evidence)
06 Dec 2019	Hereditary neuropathy or pain disorder v0.7	ARHGEF10	Louise Daugherty Added comment: Comment on list classification: The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
06 Dec 2019	Hereditary neuropathy or pain disorder v0.7	ARHGEF10	Louise Daugherty Gene: arhgef10 has been classified as Amber List (Moderate Evidence).
05 Dec 2019	Hereditary neuropathy or pain disorder v0.6	ABCA1	Louise Daugherty changed review comment from: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL. The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents ; to: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL. The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/
05 Dec 2019	Hereditary neuropathy or pain disorder v0.6	ABCA1	Louise Daugherty changed review comment from: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL The gene has changed ratings as the panel that was going to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents ; to: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL. The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents
05 Dec 2019	Hereditary neuropathy or pain disorder v0.6	ABCA1	Louise Daugherty Classified gene: ABCA1 as Amber List (moderate evidence)
05 Dec 2019	Hereditary neuropathy or pain disorder v0.6	ABCA1	Louise Daugherty Gene: abca1 has been classified as Amber List (Moderate Evidence).
05 Dec 2019	Hereditary neuropathy or pain disorder v0.5	ABCA1	Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green. R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL The gene has changed ratings as the panel that was going to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents
05 Dec 2019	Hereditary neuropathy or pain disorder v0.5	ABCA1	Louise Daugherty Deleted their comment
05 Dec 2019	Hereditary neuropathy or pain disorder v0.3		Ellen McDonagh Panel status changed from internal to public
05 Dec 2019	Hereditary neuropathy or pain disorder v0.2		Ellen McDonagh List of related panels changed from to R78 Panel types changed to GMS Rare Disease Virtual
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ZFYVE27	Ellen McDonagh gene: ZFYVE27 was added gene: ZFYVE27 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: ZFYVE27 was set to Phenotypes for gene: ZFYVE27 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ZFYVE26	Ellen McDonagh gene: ZFYVE26 was added gene: ZFYVE26 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZFYVE26 were set to Hereditary Neuropathies; Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy; Spastic paraplegia 15, autosomal recessive, 270700
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	XRCC1	Ellen McDonagh gene: XRCC1 was added gene: XRCC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC1 were set to 29472272; 28002403 Phenotypes for gene: XRCC1 were set to Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy; Spinocerebellar ataxia, autosomal recessive 26, 617633
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	XPA	Ellen McDonagh gene: XPA was added gene: XPA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPA were set to 2168777 Phenotypes for gene: XPA were set to Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy; Xeroderma pigmentosum, group A, 278700
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	XK	Ellen McDonagh gene: XK was added gene: XK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: XK were set to Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy; McLeod syndrome with or without chronic granulomatous disease, 300842
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	WASHC5	Ellen McDonagh gene: WASHC5 was added gene: WASHC5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: WASHC5 was set to Publications for gene: WASHC5 were set to 27164712 Phenotypes for gene: WASHC5 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	VPS13A	Ellen McDonagh gene: VPS13A was added gene: VPS13A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13A were set to Choreoacanthocytosis, 200150; Choreoacanthocytosis. Onset 3rd to 5th decade, red cell acanthocytosis and progressive neurodegeneration, seizures, dysarthria, chorea, orofacial dyskinesia, psychiatric disturbance, axonal sensory-motor neuropathy, raised CK
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	VCL	Ellen McDonagh gene: VCL was added gene: VCL was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: VCL was set to Phenotypes for gene: VCL were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TWNK	Ellen McDonagh gene: TWNK was added gene: TWNK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TWNK were set to Hereditary Neuropathies; Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TTPA	Ellen McDonagh gene: TTPA was added gene: TTPA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTPA were set to Hereditary Neuropathies; Early onset ataxia and sensory axonal neuropathy similar to Friedreich ataxia, head titubation, normal fat absorption unlike abetalipoproteinaemia, rarely retinitis pigmentosa
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TTN	Ellen McDonagh gene: TTN was added gene: TTN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TTN was set to Phenotypes for gene: TTN were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TTBK2	Ellen McDonagh gene: TTBK2 was added gene: TTBK2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TTBK2 was set to Phenotypes for gene: TTBK2 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TRPA1	Ellen McDonagh gene: TRPA1 was added gene: TRPA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: TRPA1 was set to
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TRIM2	Ellen McDonagh gene: TRIM2 was added gene: TRIM2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: TRIM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM2 were set to 25893792; 18687884; 23562820 Phenotypes for gene: TRIM2 were set to Charcot-Marie-Tooth disease, type 2R, 615490
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TPM1	Ellen McDonagh gene: TPM1 was added gene: TPM1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TPM1 was set to Phenotypes for gene: TPM1 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TNNT2	Ellen McDonagh gene: TNNT2 was added gene: TNNT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TNNT2 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TNNI3	Ellen McDonagh gene: TNNI3 was added gene: TNNI3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TNNI3 was set to Phenotypes for gene: TNNI3 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TNNC1	Ellen McDonagh gene: TNNC1 was added gene: TNNC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TNNC1 was set to Phenotypes for gene: TNNC1 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TMEM43	Ellen McDonagh gene: TMEM43 was added gene: TMEM43 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TMEM43 was set to Phenotypes for gene: TMEM43 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TDP1	Ellen McDonagh gene: TDP1 was added gene: TDP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TDP1 were set to 12244316 Phenotypes for gene: TDP1 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TCAP	Ellen McDonagh gene: TCAP was added gene: TCAP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TCAP was set to Phenotypes for gene: TCAP were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TAZ	Ellen McDonagh gene: TAZ was added gene: TAZ was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TAZ was set to Phenotypes for gene: TAZ were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SURF1	Ellen McDonagh gene: SURF1 was added gene: SURF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency, 256000; Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SUCLA2	Ellen McDonagh gene: SUCLA2 was added gene: SUCLA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLA2 were set to 17287286 Phenotypes for gene: SUCLA2 were set to Leigh like syndrome, deafness, progressive dystonia, mild methylmaolic acidaemia; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SPTBN2	Ellen McDonagh gene: SPTBN2 was added gene: SPTBN2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SPTBN2 was set to Publications for gene: SPTBN2 were set to 28333917 Phenotypes for gene: SPTBN2 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SPG7	Ellen McDonagh gene: SPG7 was added gene: SPG7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPG7 were set to Hereditary Neuropathies; Spastic paraplegia, optic atrophy, ataxia and sensory-motor axonal neuropathy in some patients
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SPG21	Ellen McDonagh gene: SPG21 was added gene: SPG21 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SPG21 was set to Phenotypes for gene: SPG21 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SPART	Ellen McDonagh gene: SPART was added gene: SPART was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SPART was set to Phenotypes for gene: SPART were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SOX10	Ellen McDonagh gene: SOX10 was added gene: SOX10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,South West GLH Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX10 were set to 21898658 Phenotypes for gene: SOX10 were set to Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SOS1	Ellen McDonagh gene: SOS1 was added gene: SOS1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SOS1 was set to Phenotypes for gene: SOS1 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SLC5A7	Ellen McDonagh gene: SLC5A7 was added gene: SLC5A7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC5A7 were set to 23141292; 29782645 Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SLC52A1	Ellen McDonagh gene: SLC52A1 was added gene: SLC52A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Red,South West GLH Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC52A1 were set to Riboflavin deficiency; dHMN
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SLC25A46	Ellen McDonagh gene: SLC25A46 was added gene: SLC25A46 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A46 were set to 26168012 Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505; Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SLC25A19	Ellen McDonagh gene: SLC25A19 was added gene: SLC25A19 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A19 were set to 19798730 Phenotypes for gene: SLC25A19 were set to Acute encephalopathic episodes and paralysis following febrile illness with almost complete recovery. Absent sensory-motor action potential during illness. Bilateral striatal necrosis on MRI. Additional chronic progressive axonal neuropathy; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SLC1A3	Ellen McDonagh gene: SLC1A3 was added gene: SLC1A3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SLC1A3 was set to Phenotypes for gene: SLC1A3 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SIL1	Ellen McDonagh gene: SIL1 was added gene: SIL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SIL1 was set to Phenotypes for gene: SIL1 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SGCD	Ellen McDonagh gene: SGCD was added gene: SGCD was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SGCD was set to Phenotypes for gene: SGCD were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SELENOI	Ellen McDonagh gene: SELENOI was added gene: SELENOI was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SELENOI were set to Infantile onset, global developmental delay, spasticity, periventricular white mater signal change on MRI, peripheral neuropathy with SNCV. Seizures and bifid uvula in some affected individuals
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SCYL1	Ellen McDonagh gene: SCYL1 was added gene: SCYL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCYL1 were set to 26581903 Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719; Early onset ataxia (<1 yr) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SCP2	Ellen McDonagh gene: SCP2 was added gene: SCP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCP2 were set to 16685654 Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724; Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SCN5A	Ellen McDonagh gene: SCN5A was added gene: SCN5A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SCN5A was set to Phenotypes for gene: SCN5A were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SCN10A	Ellen McDonagh gene: SCN10A was added gene: SCN10A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SCN10A was set to
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SCARB2	Ellen McDonagh gene: SCARB2 was added gene: SCARB2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCARB2 were set to 19597094; 21670406 Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure, 254900; Progressive myoclonic epilepsy with preserved cognition, onset 2nd decade, renal impairment, rarely demyelinating sensory-motor neuropathy (without renal failure)
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SBF1	Ellen McDonagh gene: SBF1 was added gene: SBF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SBF1 were set to 23749797; 28005197; 21210780; 24799518 Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3, 615284
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	RYR2	Ellen McDonagh gene: RYR2 was added gene: RYR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: RYR2 was set to Phenotypes for gene: RYR2 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	RIT1	Ellen McDonagh gene: RIT1 was added gene: RIT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: RIT1 was set to Phenotypes for gene: RIT1 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	RBM20	Ellen McDonagh gene: RBM20 was added gene: RBM20 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: RBM20 was set to Phenotypes for gene: RBM20 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	RAF1	Ellen McDonagh gene: RAF1 was added gene: RAF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: RAF1 was set to Phenotypes for gene: RAF1 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PTRH2	Ellen McDonagh gene: PTRH2 was added gene: PTRH2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRH2 were set to 25572476; 25558065 Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263; Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PTPN11	Ellen McDonagh gene: PTPN11 was added gene: PTPN11 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN11 were set to 25884655; 26952712; 26337637 Phenotypes for gene: PTPN11 were set to Cardiomyopathy; Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PTEN	Ellen McDonagh gene: PTEN was added gene: PTEN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTEN were set to Cowden syndrome 1, 158350; multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PRKCG	Ellen McDonagh gene: PRKCG was added gene: PRKCG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKCG were set to 26633542; 29603387 Phenotypes for gene: PRKCG were set to Hereditary Neuropathies; Spinocerebellar ataxia 14, 605361; Usually adult onset isolated cerebellar ataxia. Missense mutation in catalytic domain of exon 11 associated with complex syndrome including cerebellar ataxia, sensory motor axonal neuropathy, parkinsonism, dystonia, myoclonus and pyramidal syndrome
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PRKAG2	Ellen McDonagh gene: PRKAG2 was added gene: PRKAG2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: PRKAG2 was set to Phenotypes for gene: PRKAG2 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PPOX	Ellen McDonagh gene: PPOX was added gene: PPOX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PPOX were set to Porphyria variegata, 176200; Skin photosensitivity. Acute episodes similar to AIP
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	POLR3A	Ellen McDonagh gene: POLR3A was added gene: POLR3A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 28459997 Phenotypes for gene: POLR3A were set to Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PNPLA6	Ellen McDonagh gene: PNPLA6 was added gene: PNPLA6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to 24355708 Phenotypes for gene: PNPLA6 were set to Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia; progressive distal motor neuropathy beginning in early through late adolescence
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PNKP	Ellen McDonagh gene: PNKP was added gene: PNKP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNKP were set to 30039206 Phenotypes for gene: PNKP were set to Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; Ataxia-oculomotor apraxia 4, 616267
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PMP2	Ellen McDonagh gene: PMP2 was added gene: PMP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PMP2 were set to Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PMM2	Ellen McDonagh gene: PMM2 was added gene: PMM2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to 9140401 Phenotypes for gene: PMM2 were set to Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy; Congenital disorder of glycosylation, type Ia, 212065
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PLP1	Ellen McDonagh gene: PLP1 was added gene: PLP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PLN	Ellen McDonagh gene: PLN was added gene: PLN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: PLN was set to Phenotypes for gene: PLN were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PKP2	Ellen McDonagh gene: PKP2 was added gene: PKP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: PKP2 was set to Phenotypes for gene: PKP2 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PEX10	Ellen McDonagh gene: PEX10 was added gene: PEX10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PEX10 was set to Publications for gene: PEX10 were set to 27230853; 20695019 Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), 614870; Failure to thrive, facial dismorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described; Peroxisome biogenesis disorder 6B, 614871
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PDYN	Ellen McDonagh gene: PDYN was added gene: PDYN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDYN were set to 21035104 Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23, 610245; Cerebellar ataxia, sensory-motor axonal neuropathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PDLIM3	Ellen McDonagh gene: PDLIM3 was added gene: PDLIM3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: PDLIM3 was set to Phenotypes for gene: PDLIM3 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PDK3	Ellen McDonagh gene: PDK3 was added gene: PDK3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen 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 26801680; 23297365 Phenotypes for gene: PDK3 were set to ?Charcot Marie Tooth disease, X linked dominant, 6, 300905
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	OPA3	Ellen McDonagh gene: OPA3 was added gene: OPA3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: OPA3 were set to Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction; Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	OPA1	Ellen McDonagh gene: OPA1 was added gene: OPA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OPA1 were set to Optic atrophy 1, 165500; Optic neuropathy, PEO, deafness, myelopathy, sensory-motor axonal neuropathy; Optic atrophy plus syndrome, 125250
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	NRAS	Ellen McDonagh gene: NRAS was added gene: NRAS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: NRAS was set to Phenotypes for gene: NRAS were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	NIPA1	Ellen McDonagh gene: NIPA1 was added gene: NIPA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NIPA1 were set to 14508710; 15711826; 21419568; 22302102; 15643603 Phenotypes for gene: NIPA1 were set to Hereditary Neuropathies; Spastic paraplegia 6, autosomal dominant
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	NEXN	Ellen McDonagh gene: NEXN was added gene: NEXN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: NEXN was set to Phenotypes for gene: NEXN were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	NEFH	Ellen McDonagh gene: NEFH was added gene: NEFH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH 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
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	NEBL	Ellen McDonagh gene: NEBL was added gene: NEBL was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: NEBL was set to Phenotypes for gene: NEBL were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	NAGLU	Ellen McDonagh gene: NAGLU was added gene: NAGLU was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH Mode of inheritance for gene: NAGLU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NAGLU were set to 25818867 Phenotypes for gene: NAGLU were set to ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	NAGA	Ellen McDonagh gene: NAGA was added gene: NAGA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGA were set to 15136691 Phenotypes for gene: NAGA were set to Kanzaki disease, 609242; Kanzaki disease. Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MYPN	Ellen McDonagh gene: MYPN was added gene: MYPN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MYPN was set to Phenotypes for gene: MYPN were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MYOZ2	Ellen McDonagh gene: MYOZ2 was added gene: MYOZ2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MYOZ2 was set to Phenotypes for gene: MYOZ2 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MYL3	Ellen McDonagh gene: MYL3 was added gene: MYL3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MYL3 was set to Phenotypes for gene: MYL3 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MYL2	Ellen McDonagh gene: MYL2 was added gene: MYL2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MYL2 was set to Phenotypes for gene: MYL2 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MYH7	Ellen McDonagh gene: MYH7 was added gene: MYH7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MYH7 was set to Phenotypes for gene: MYH7 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MYH6	Ellen McDonagh gene: MYH6 was added gene: MYH6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MYH6 was set to Phenotypes for gene: MYH6 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MYH14	Ellen McDonagh gene: MYH14 was added gene: MYH14 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYH14 were set to 30373780; 21480433; 27875632 Phenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MYBPC3	Ellen McDonagh gene: MYBPC3 was added gene: MYBPC3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MYBPC3 was set to Phenotypes for gene: MYBPC3 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MTTP	Ellen McDonagh gene: MTTP was added gene: MTTP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: MTTP was set to Publications for gene: MTTP were set to 2991816 Phenotypes for gene: MTTP were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MT-TL1	Ellen McDonagh gene: MT-TL1 was added gene: MT-TL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Phenotypes for gene: MT-TL1 were set to Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MT-RNR1	Ellen McDonagh gene: MT-RNR1 was added gene: MT-RNR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL Phenotypes for gene: MT-RNR1 were set to Parkinsonism, deafness, and sensory-motor axonal neuropathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MRE11	Ellen McDonagh gene: MRE11 was added gene: MRE11 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MRE11 was set to Phenotypes for gene: MRE11 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MMACHC	Ellen McDonagh gene: MMACHC was added gene: MMACHC was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 20610126 Phenotypes for gene: MMACHC were set to Onset infancy to adulthood; Methylmalonic aciduria and homocystinuria, cblC type, 277400; thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MED25	Ellen McDonagh gene: MED25 was added gene: MED25 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 19290556 Phenotypes for gene: MED25 were set to Charcot Marie Tooth disease, type 2B2, 605589
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MCM3AP	Ellen McDonagh gene: MCM3AP was added gene: MCM3AP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MARS	Ellen McDonagh gene: MARS was added gene: MARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MARS were set to 23729695; 29655802 Phenotypes for gene: MARS were set to Charcot-Marie-Tooth disease, axonal, type 2U, 616280
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MAP2K2	Ellen McDonagh gene: MAP2K2 was added gene: MAP2K2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MAP2K2 was set to Phenotypes for gene: MAP2K2 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MAP2K1	Ellen McDonagh gene: MAP2K1 was added gene: MAP2K1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MAP2K1 was set to Phenotypes for gene: MAP2K1 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	LYST	Ellen McDonagh gene: LYST was added gene: LYST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYST were set to 27669550 Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500; Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	LDB3	Ellen McDonagh gene: LDB3 was added gene: LDB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: LDB3 was set to Phenotypes for gene: LDB3 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	LAS1L	Ellen McDonagh gene: LAS1L was added gene: LAS1L was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH Mode of inheritance for gene: LAS1L 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: LAS1L were set to 24647030
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	LAMP2	Ellen McDonagh gene: LAMP2 was added gene: LAMP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: LAMP2 was set to Phenotypes for gene: LAMP2 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	LAMA4	Ellen McDonagh gene: LAMA4 was added gene: LAMA4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: LAMA4 was set to Phenotypes for gene: LAMA4 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	L1CAM	Ellen McDonagh gene: L1CAM was added gene: L1CAM was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: L1CAM was set to Phenotypes for gene: L1CAM were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	KRAS	Ellen McDonagh gene: KRAS was added gene: KRAS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: KRAS was set to Phenotypes for gene: KRAS were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	KLC2	Ellen McDonagh gene: KLC2 was added gene: KLC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLC2 were set to 26385635 Phenotypes for gene: KLC2 were set to SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy; Spastic paraplegia, optic atrophy, and neuropathy, 609541
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	KIF1B	Ellen McDonagh gene: KIF1B was added gene: KIF1B was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF1B were set to 11389829; 25802885 Phenotypes for gene: KIF1B were set to Charcot Marie Tooth disease, type 2A1, 118210
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	KCNC3	Ellen McDonagh gene: KCNC3 was added gene: KCNC3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: KCNC3 was set to Phenotypes for gene: KCNC3 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	KCNA2	Ellen McDonagh gene: KCNA2 was added gene: KCNA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNA2 were set to 27543892 Phenotypes for gene: KCNA2 were set to Epileptic encephalopathy, early infantile, 32, 616366; Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	KCNA1	Ellen McDonagh gene: KCNA1 was added gene: KCNA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: KCNA1 was set to Phenotypes for gene: KCNA1 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	KARS	Ellen McDonagh gene: KARS was added gene: KARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: KARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KARS were set to 25476837; 23768514; 20920668 Phenotypes for gene: KARS were set to Deafness, autosomal recessive 89, 613916; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot-Marie-Tooth, Intermediate (Dominant).; Charcot Marie Tooth disease, recessive intermediate, B, 613641
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	JUP	Ellen McDonagh gene: JUP was added gene: JUP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: JUP was set to Phenotypes for gene: JUP were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	JPH2	Ellen McDonagh gene: JPH2 was added gene: JPH2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: JPH2 was set to Phenotypes for gene: JPH2 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ITPR1	Ellen McDonagh gene: ITPR1 was added gene: ITPR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: ITPR1 was set to Phenotypes for gene: ITPR1 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	IARS2	Ellen McDonagh gene: IARS2 was added gene: IARS2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS2 were set to 28328135; 30419932; 25130867; 30041933 Phenotypes for gene: IARS2 were set to Spondyloepiphyseal dysplasia, congenital cataracts, nystagmus, dysmorphic facies, sensory neuronal hearing loss, growth hormone deficiency, sensory axonal peripheral neuropathy; Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	HSPB3	Ellen McDonagh gene: HSPB3 was added gene: HSPB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HSPB3 were set to 27549087; 20142617 Phenotypes for gene: HSPB3 were set to ?Neuronopathy, distal hereditary motor, type IIC, 613376
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	HRAS	Ellen McDonagh gene: HRAS was added gene: HRAS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: HRAS was set to Phenotypes for gene: HRAS were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	HOXD10	Ellen McDonagh gene: HOXD10 was added gene: HOXD10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: HOXD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HOXD10 were set to 15146389 Phenotypes for gene: HOXD10 were set to Charcot Marie Tooth disease, foot deformity of, 192950
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	HMBS	Ellen McDonagh gene: HMBS was added gene: HMBS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HMBS were set to AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy; Porphyria, acute intermittent, 176000
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	HADHB	Ellen McDonagh gene: HADHB was added gene: HADHB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,South West GLH,London North GLH,Expert list Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	HADHA	Ellen McDonagh gene: HADHA was added gene: HADHA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Red,South West GLH Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHA were set to Trifunctional protein deficiency, 609015
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	GNB4	Ellen McDonagh gene: GNB4 was added gene: GNB4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: GNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNB4 were set to 27908631; 23434117; 28642160 Phenotypes for gene: GNB4 were set to Charcot Marie Tooth disease, dominant intermediate F, 615185
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	GLE1	Ellen McDonagh gene: GLE1 was added gene: GLE1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLE1 were set to 18204449 Phenotypes for gene: GLE1 were set to Lethal congenital contracture syndrome 1, 253310; Congenital arthrogryposis with anterior horn cell disease, 611890; Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	GJC2	Ellen McDonagh gene: GJC2 was added gene: GJC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804; Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy; Spastic paraplegia 44, autosomal recessive, 613206
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	GBA2	Ellen McDonagh gene: GBA2 was added gene: GBA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA2 were set to 23332916 Phenotypes for gene: GBA2 were set to SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy; Spastic paraplegia 46, autosomal recessive, 614409
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	GATAD1	Ellen McDonagh gene: GATAD1 was added gene: GATAD1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: GATAD1 was set to Phenotypes for gene: GATAD1 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	GALC	Ellen McDonagh gene: GALC was added gene: GALC was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALC were set to Krabbe. Spastic paraplegia, developmental delay, optic atrophy; Krabbe disease, 245200; adult onset has spastic paraplegia and sensory-motor axonal neuropathy with slow or normal conduction velocities, MRI shows leukodystrophy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	GAA	Ellen McDonagh gene: GAA was added gene: GAA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,Expert Review Red,NHS GMS Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAA were set to 24627108 Phenotypes for gene: GAA were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	FXN	Ellen McDonagh gene: FXN was added gene: FXN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH Mode of inheritance for gene: FXN was set to Phenotypes for gene: FXN were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	FLVCR1	Ellen McDonagh gene: FLVCR1 was added gene: FLVCR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR1 were set to 21070897 Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033; Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	FKTN	Ellen McDonagh gene: FKTN was added gene: FKTN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: FKTN was set to Phenotypes for gene: FKTN were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	FGF14	Ellen McDonagh gene: FGF14 was added gene: FGF14 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: FGF14 was set to Phenotypes for gene: FGF14 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	FBXO38	Ellen McDonagh gene: FBXO38 was added gene: FBXO38 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: FBXO38 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXO38 were set to 24207122 Phenotypes for gene: FBXO38 were set to Neuronopathy, distal hereditary motor, type IID, 615575
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	FAM126A	Ellen McDonagh gene: FAM126A was added gene: FAM126A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM126A were set to 16951682 Phenotypes for gene: FAM126A were set to Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	FAH	Ellen McDonagh gene: FAH was added gene: FAH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP; Tyrosinemia, type I, 276700
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	FA2H	Ellen McDonagh gene: FA2H was added gene: FA2H was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to 22146942 Phenotypes for gene: FA2H were set to SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed; Spastic paraplegia 35, autosomal recessive, 612319
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ETFDH	Ellen McDonagh gene: ETFDH was added gene: ETFDH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680; Neonatal and late onset forms. hypoglycaemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occur. Riboflavin responsive
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ERCC8	Ellen McDonagh gene: ERCC8 was added gene: ERCC8 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC8 were set to Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type A, 216400
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ERCC6	Ellen McDonagh gene: ERCC6 was added gene: ERCC6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type B, 133540
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ERBB3	Ellen McDonagh gene: ERBB3 was added gene: ERBB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERBB3 were set to 17709104 Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, 607598; Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	EMD	Ellen McDonagh gene: EMD was added gene: EMD was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: EMD was set to Phenotypes for gene: EMD were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DTNA	Ellen McDonagh gene: DTNA was added gene: DTNA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: DTNA was set to Phenotypes for gene: DTNA were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DSTYK	Ellen McDonagh gene: DSTYK was added gene: DSTYK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DSTYK were set to Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).; Spastic paraplegia 23, 270750
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DST	Ellen McDonagh gene: DST was added gene: DST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DST were set to 30371979; 28468842 Phenotypes for gene: DST were set to Hereditary Sensory and Autonomic Neuropathy, Type VI; ?Neuropathy, hereditary sensory and autonomic, type VI
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DSP	Ellen McDonagh gene: DSP was added gene: DSP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: DSP was set to Phenotypes for gene: DSP were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DSG2	Ellen McDonagh gene: DSG2 was added gene: DSG2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: DSG2 was set to Phenotypes for gene: DSG2 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DSC2	Ellen McDonagh gene: DSC2 was added gene: DSC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: DSC2 was set to Phenotypes for gene: DSC2 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DRP2	Ellen McDonagh gene: DRP2 was added gene: DRP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review 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 26227883; 29473052
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DNAJC3	Ellen McDonagh gene: DNAJC3 was added gene: DNAJC3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC3 were set to 25466870 Phenotypes for gene: DNAJC3 were set to Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus; Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DNAJB2	Ellen McDonagh gene: DNAJB2 was added gene: DNAJB2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Red,South West GLH Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB2 were set to 26752306; 25274842 Phenotypes for gene: DNAJB2 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DMD	Ellen McDonagh gene: DMD was added gene: DMD was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: DMD was set to Phenotypes for gene: DMD were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DHTKD1	Ellen McDonagh gene: DHTKD1 was added gene: DHTKD1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DHTKD1 was set to Phenotypes for gene: DHTKD1 were set to Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DHH	Ellen McDonagh gene: DHH was added gene: DHH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,UKGTN,South West GLH Mode of inheritance for gene: DHH was set to
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DGUOK	Ellen McDonagh gene: DGUOK was added gene: DGUOK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 15883261 Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Portal hypertension, noncirrhotic, 617068; Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DES	Ellen McDonagh gene: DES was added gene: DES was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: DES was set to Phenotypes for gene: DES were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DEGS1	Ellen McDonagh gene: DEGS1 was added gene: DEGS1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DEGS1 were set to 30620337; 30620338 Phenotypes for gene: DEGS1 were set to Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition; Leukodystrophy, hypomyelinating, 18, 618404
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DCTN1	Ellen McDonagh gene: DCTN1 was added gene: DCTN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DCTN1 were set to 24627108; 27025386; 28251916 Phenotypes for gene: DCTN1 were set to Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DCAF8	Ellen McDonagh gene: DCAF8 was added gene: DCAF8 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH Mode of inheritance for gene: DCAF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DCAF8 were set to 24500646 Phenotypes for gene: DCAF8 were set to ?Giant axonal neuropathy 2, autosomal dominant, 610100
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DARS2	Ellen McDonagh gene: DARS2 was added gene: DARS2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS2 were set to 28334938 Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	CYP27A1	Ellen McDonagh gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 22878431 Phenotypes for gene: CYP27A1 were set to SNCV described in a minority of patients; Adolescent-onset progressive ataxia, myelopathy and dementia, cataracts, low cholesterol, atherosclerosis, xanthomas, soft palate myoclonus, intractable infantile-onset diarrhoea, cerebral white matter lesions on MRI, sensory to motor axonal neuropathy; Cerebrotendinous xanthomatosis, 213700
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	CTDP1	Ellen McDonagh gene: CTDP1 was added gene: CTDP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTDP1 were set to 16194727; 24690360; 14517542 Phenotypes for gene: CTDP1 were set to Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	CSRP3	Ellen McDonagh gene: CSRP3 was added gene: CSRP3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: CSRP3 was set to Phenotypes for gene: CSRP3 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	CRYAB	Ellen McDonagh gene: CRYAB was added gene: CRYAB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: CRYAB was set to Phenotypes for gene: CRYAB were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	CPOX	Ellen McDonagh gene: CPOX was added gene: CPOX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CPOX were set to Coproporphyria, 121300; Harderoporphyria, 121300; Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	COQ8A	Ellen McDonagh gene: COQ8A was added gene: COQ8A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: COQ8A was set to Phenotypes for gene: COQ8A were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	COA7	Ellen McDonagh gene: COA7 was added gene: COA7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 2971817 Phenotypes for gene: COA7 were set to Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	CNTNAP1	Ellen McDonagh gene: CNTNAP1 was added gene: CNTNAP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, 618186
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	CLTCL1	Ellen McDonagh gene: CLTCL1 was added gene: CLTCL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH Mode of inheritance for gene: CLTCL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLTCL1 were set to 26068709
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	CD59	Ellen McDonagh gene: CD59 was added gene: CD59 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD59 were set to 24382084; 23149847 Phenotypes for gene: CD59 were set to Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy; Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	CCT5	Ellen McDonagh gene: CCT5 was added gene: CCT5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCT5 were set to 16399879 Phenotypes for gene: CCT5 were set to Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia, 256840
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	CAV3	Ellen McDonagh gene: CAV3 was added gene: CAV3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: CAV3 was set to Phenotypes for gene: CAV3 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	CASQ2	Ellen McDonagh gene: CASQ2 was added gene: CASQ2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: CASQ2 was set to Phenotypes for gene: CASQ2 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	CACNB4	Ellen McDonagh gene: CACNB4 was added gene: CACNB4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: CACNB4 was set to Phenotypes for gene: CACNB4 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	C19orf12	Ellen McDonagh gene: C19orf12 was added gene: C19orf12 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C19orf12 were set to 23857908; 20039086 Phenotypes for gene: C19orf12 were set to SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs; Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	BRAF	Ellen McDonagh gene: BRAF was added gene: BRAF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: BRAF was set to Phenotypes for gene: BRAF were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	BCKDHB	Ellen McDonagh gene: BCKDHB was added gene: BCKDHB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDHB were set to 18855118; 11180212 Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib, 248600; Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath; Maple Syrup Urine Disease
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	BAG3	Ellen McDonagh gene: BAG3 was added gene: BAG3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BAG3 were set to 22734908; 28754666 Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	B4GALNT1	Ellen McDonagh gene: B4GALNT1 was added gene: B4GALNT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALNT1 were set to 23746551 Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy; Spastic paraplegia 26, autosomal recessive, 609195; SPG26
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ATP1A1	Ellen McDonagh gene: ATP1A1 was added gene: ATP1A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ATP1A1 was set to Publications for gene: ATP1A1 were set to 29499166 Phenotypes for gene: ATP1A1 were set to Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ARSA	Ellen McDonagh gene: ARSA was added gene: ARSA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy; Metachromatic leukodystrophy, 250100
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ARL6IP1	Ellen McDonagh gene: ARL6IP1 was added gene: ARL6IP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6IP1 were set to 24482476 Phenotypes for gene: ARL6IP1 were set to Spastic paraplegia 61, autosomal recessive, 615685; Childhood onset spastic paraplegia with mutilating, sensory to motor axonal neuropathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	APTX	Ellen McDonagh gene: APTX was added gene: APTX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APTX were set to 11176957 Phenotypes for gene: APTX were set to Hereditary Neuropathies; ATAXIA WITH OCULOMOTOR APRAXIA 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	APOA1	Ellen McDonagh gene: APOA1 was added gene: APOA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOA1 were set to 23730806 Phenotypes for gene: APOA1 were set to Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	AP1S1	Ellen McDonagh gene: AP1S1 was added gene: AP1S1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1S1 were set to 19057675 Phenotypes for gene: AP1S1 were set to MEDNIK syndrome, 609313; Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ANKRD1	Ellen McDonagh gene: ANKRD1 was added gene: ANKRD1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: ANKRD1 was set to Phenotypes for gene: ANKRD1 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ALDH3A2	Ellen McDonagh gene: ALDH3A2 was added gene: ALDH3A2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: ALDH3A2 was set to Phenotypes for gene: ALDH3A2 were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	AGXT	Ellen McDonagh gene: AGXT was added gene: AGXT was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGXT were set to 25363903; 4701948 Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900; Renal failure and deposition of calcium oxalate crystals in tissues including nerve and muscle. Sensory and motor axonal neuropathy (some slowing)
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	AGTPBP1	Ellen McDonagh gene: AGTPBP1 was added gene: AGTPBP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGTPBP1 were set to 30420557 Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ACTN2	Ellen McDonagh gene: ACTN2 was added gene: ACTN2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: ACTN2 was set to Phenotypes for gene: ACTN2 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ACTC1	Ellen McDonagh gene: ACTC1 was added gene: ACTC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: ACTC1 was set to Phenotypes for gene: ACTC1 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ABHD12	Ellen McDonagh gene: ABHD12 was added gene: ABHD12 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD12 were set to 20797687; 29571850 Phenotypes for gene: ABHD12 were set to Neurodegeneration, childhood-onset, with cerebellar atrophy,612674; Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ABCC9	Ellen McDonagh gene: ABCC9 was added gene: ABCC9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: ABCC9 was set to Phenotypes for gene: ABCC9 were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	VRK1	Ellen McDonagh gene: VRK1 was added gene: VRK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Amber,London North GLH,Expert list Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VRK1 were set to 30847374 Phenotypes for gene: VRK1 were set to Distal hereditary motor neuropathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SYT2	Ellen McDonagh gene: SYT2 was added gene: SYT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Amber,South West GLH Mode of inheritance for gene: SYT2 was set to Publications for gene: SYT2 were set to 26519543; 30533528 Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	YARS	Ellen McDonagh gene: YARS was added gene: YARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: YARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: YARS were set to 19561293; 16429158 Phenotypes for gene: YARS were set to Charcot Marie Tooth disease, dominant intermediate C, 608323
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	WNK1	Ellen McDonagh gene: WNK1 was added gene: WNK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNK1 were set to 15060842 Phenotypes for gene: WNK1 were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	WARS	Ellen McDonagh gene: WARS was added gene: WARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WARS were set to 28369220 Phenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX, 617721
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	VCP	Ellen McDonagh gene: VCP was added gene: VCP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VCP were set to 26574898; 25878907; 25125609 Phenotypes for gene: VCP were set to Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1; Charcot-Marie-Tooth disease, type 2Y
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TYMP	Ellen McDonagh gene: TYMP was added gene: TYMP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type)
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TUBB3	Ellen McDonagh gene: TUBB3 was added gene: TUBB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES; CFEOM3A; Fibrosis of extraocular muscles, congenital, 3A
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TTR	Ellen McDonagh gene: TTR was added gene: TTR was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTR were set to 31111153; 31131842; 30878017; 30120737; 31118583 Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related, 105210; FAP; Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TRPV4	Ellen McDonagh gene: TRPV4 was added gene: TRPV4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPV4 were set to 20037586 Phenotypes for gene: TRPV4 were set to Hereditary motor and sensory neuropathy, type IIc, 606071 Mode of pathogenicity for gene: TRPV4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	TFG	Ellen McDonagh gene: TFG was added gene: TFG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,Radboud University Medical Center, Nijmegen 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; Hereditary motor and sensory neuropathy, proximal type, 604484
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SPTLC2	Ellen McDonagh gene: SPTLC2 was added gene: SPTLC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTLC2 were set to 20920666 Phenotypes for gene: SPTLC2 were set to Hereditary Sensory and Autonomic Neuropathy, Type IC; Neuropathy, hereditary sensory and autonomic, type IC, 613640 Mode of pathogenicity for gene: SPTLC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SPTLC1	Ellen McDonagh gene: SPTLC1 was added gene: SPTLC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTLC1 were set to 20097765; 16216550 Phenotypes for gene: SPTLC1 were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IA, 162400
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SPG11	Ellen McDonagh gene: SPG11 was added gene: SPG11 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,London North GLH,Expert Review Green,NHS GMS Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 26556829 Phenotypes for gene: SPG11 were set to Hereditary Neuropathies; axonal Charcot-Marie-Tooth disease type 2X
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SPAST	Ellen McDonagh gene: SPAST was added gene: SPAST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPAST were set to 28572275 Phenotypes for gene: SPAST were set to Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant; Spasticity
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SMN1	Ellen McDonagh gene: SMN1 was added gene: SMN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMN1 were set to Spinal muscular atrophy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SLC52A3	Ellen McDonagh gene: SLC52A3 was added gene: SLC52A3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A3 were set to 20206331 Phenotypes for gene: SLC52A3 were set to Fazio-Londe disease; dHMN; Brown-Vialetto-Van Laere syndrome 1
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SLC52A2	Ellen McDonagh gene: SLC52A2 was added gene: SLC52A2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to BVVL; Brown-Vialetto-Van Laere syndrome 2
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SLC12A6	Ellen McDonagh gene: SLC12A6 was added gene: SLC12A6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC12A6 were set to 12368912 Phenotypes for gene: SLC12A6 were set to Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SIGMAR1	Ellen McDonagh gene: SIGMAR1 was added gene: SIGMAR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIGMAR1 were set to PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions. PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion; PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile; PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.; PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SH3TC2	Ellen McDonagh gene: SH3TC2 was added gene: SH3TC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SH3TC2 were set to 19805030 Phenotypes for gene: SH3TC2 were set to Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SETX	Ellen McDonagh gene: SETX was added gene: SETX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SETX were set to PMID: 25025039 - a likely pathogenic variant in SETX reported in a sporadic case with CMT2 and spasticity. Found with a REEP1 variant, and the authors assume digenic pathogenicity.; PMID:25802885 - Identifiy one previously reported variant and three novel variants in 4 families. Report the variants found in CMT patients are likely nonpathogenic due to bioinformatics analysis. Report SETX c.7640T>C is a nonpathogenic rare variant
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SEPT9	Ellen McDonagh gene: SEPT9 was added gene: SEPT9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEPT9 were set to 16186812; 19451530 Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic; Neuralgic amyotrophy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SCN9A	Ellen McDonagh gene: SCN9A was added gene: SCN9A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCN9A were set to 26392352 Phenotypes for gene: SCN9A were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SCN11A	Ellen McDonagh gene: SCN11A was added gene: SCN11A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN11A were set to CONGENITAL INABILITY TO EXPERIENCE PAIN; Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SBF2	Ellen McDonagh gene: SBF2 was added gene: SBF2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SBF2 were set to 17855448; 12554688 Phenotypes for gene: SBF2 were set to Charcot Marie Tooth disease, type 4B2, 604563
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	SACS	Ellen McDonagh gene: SACS was added gene: SACS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	RETREG1	Ellen McDonagh gene: RETREG1 was added gene: RETREG1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RETREG1 were set to 30373780; 19838196 Phenotypes for gene: RETREG1 were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IIB, 613115
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	REEP1	Ellen McDonagh gene: REEP1 was added gene: REEP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,South West GLH Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: REEP1 were set to 19034539; 22703882 Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant 610250; ?Neuronopathy, distal hereditary motor, type VB, 614751; Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	RAB7A	Ellen McDonagh gene: RAB7A was added gene: RAB7A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB7A were set to 26791407 Phenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease, type 2B, 600882
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PRX	Ellen McDonagh gene: PRX was added gene: PRX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRX were set to 11157804; 10848494 Phenotypes for gene: PRX were set to Dejerine Sottas disease, autosomal recessive, 145900; Charcot Marie Tooth disease, type 4F, 614895
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PRPS1	Ellen McDonagh gene: PRPS1 was added gene: PRPS1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen 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) Publications for gene: PRPS1 were set to 17701900; 24285972 Phenotypes for gene: PRPS1 were set to Charcot Marie Tooth disease, X linked recessive, 5, 311070
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PRNP	Ellen McDonagh gene: PRNP was added gene: PRNP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRNP were set to 24224623
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PRDM12	Ellen McDonagh gene: PRDM12 was added gene: PRDM12 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,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
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	POLG	Ellen McDonagh gene: POLG was added gene: POLG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); Mitochondrial DNA depletion syndrome 4A (Alpers type); Cardiomyopathy; Progressive external ophthalmoplegia, autosomal recessive 1; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Mitochondrial DNA depletion syndrome 4B (MNGIE type)
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PMP22	Ellen McDonagh gene: PMP22 was added gene: PMP22 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PMP22 were set to Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1A, 118220; Neuropathy, inflammatory demyelinating, 139393
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PLEKHG5	Ellen McDonagh gene: PLEKHG5 was added gene: PLEKHG5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHG5 were set to 23844677; 17564964 Phenotypes for gene: PLEKHG5 were set to Spinal muscular atrophy, distal, autosomal recessive, 4, 611067; Charcot Marie Tooth disease, recessive intermediate C, 615376
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PHYH	Ellen McDonagh gene: PHYH was added gene: PHYH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHYH were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PEX7	Ellen McDonagh gene: PEX7 was added gene: PEX7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Hereditary Neuropathies; Refsum disease
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	PDHA1	Ellen McDonagh gene: PDHA1 was added gene: PDHA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	NTRK1	Ellen McDonagh gene: NTRK1 was added gene: NTRK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NTRK1 were set to 28940190 Phenotypes for gene: NTRK1 were set to Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	NGF	Ellen McDonagh gene: NGF was added gene: NGF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NGF were set to 14976160; 1317267 Phenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654; Hereditary Sensory and Autonomic Neuropathy, Type V
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	NEFL	Ellen McDonagh gene: NEFL was added gene: NEFL was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NEFL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NEFL were set to 10841809; 23618875 Phenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot Marie Tooth disease, type 1F, 607734; Charcot Marie Tooth disease, type 2E, 607684
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	NDRG1	Ellen McDonagh gene: NDRG1 was added gene: NDRG1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDRG1 were set to 10831399; 28776325 Phenotypes for gene: NDRG1 were set to Charcot Marie Tooth disease, type 4D, 601455
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MTMR2	Ellen McDonagh gene: MTMR2 was added gene: MTMR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTMR2 were set to 10802647; 28509084 Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MT-ATP6	Ellen McDonagh gene: MT-ATP6 was added gene: MT-ATP6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MPZ	Ellen McDonagh gene: MPZ was added gene: MPZ was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MPZ were set to Neuropathy, congenital hypomyelinating, 605253; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, dominant intermediate D, 607791; Roussy Levy syndrome, 180800; Charcot Marie Tooth disease, type 2J, 607736; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MPV17	Ellen McDonagh gene: MPV17 was added gene: MPV17 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MORC2	Ellen McDonagh gene: MORC2 was added gene: MORC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Literature,South West GLH 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 Mode of pathogenicity for gene: MORC2 was set to FALSE
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MME	Ellen McDonagh gene: MME was added gene: MME was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Other,Expert Review Green Mode of inheritance for gene: MME was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MME were set to 26991897; 27588448 Phenotypes for gene: MME were set to Charcot-Marie-Tooth disease, axonal, type 2T, 617017
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	MFN2	Ellen McDonagh gene: MFN2 was added gene: MFN2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MFN2 were set to Charcot Marie Tooth disease, type 2A2, 609260; Charcot-Marie-Tooth, Type 2 (Dominant); Hereditary motor and sensory neuropathy VI, 601152; MFN2 axonal neuropathy; Hereditary Motor and Sensory Neuropathy (Recessive)
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	LRSAM1	Ellen McDonagh gene: LRSAM1 was added gene: LRSAM1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: LRSAM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LRSAM1 were set to 22781092; 28335037 Phenotypes for gene: LRSAM1 were set to Charcot Marie Toothe disease, axonal, type 2P, 614436
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	LMNA	Ellen McDonagh gene: LMNA was added gene: LMNA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMNA were set to 11799477 Phenotypes for gene: LMNA were set to Emery Dreifuss muscular dystrophy 3, AR, 181350; Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112; Cardiomyopathy, dilated, 1A, 115200; Lipodystrophy, familial partial, 2, 151660; Emery Dreifuss muscular dystrophy 2, AD, 181350; Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670; Charcot Marie Tooth disease, type 2B1, 605588
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	LITAF	Ellen McDonagh gene: LITAF was added gene: LITAF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LITAF were set to 28211240 Phenotypes for gene: LITAF were set to Charcot Marie Tooth disease, type 1C, 601098
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	KIF5A	Ellen McDonagh gene: KIF5A was added gene: KIF5A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,London North GLH,Expert Review Green,NHS GMS Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF5A were set to Hereditary Neuropathies; Spastic paraplegia 10, autosomal dominant
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	KIF1A	Ellen McDonagh gene: KIF1A was added gene: KIF1A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF1A were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	INF2	Ellen McDonagh gene: INF2 was added gene: INF2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,Radboud University Medical Center, Nijmegen 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
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	IGHMBP2	Ellen McDonagh gene: IGHMBP2 was added gene: IGHMBP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGHMBP2 were set to 26392352 Phenotypes for gene: IGHMBP2 were set to Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	HSPB8	Ellen McDonagh gene: HSPB8 was added gene: HSPB8 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HSPB8 were set to 28780615; 23389032 Phenotypes for gene: HSPB8 were set to Neuropathy, distal hereditary motor, type IIA, 158590; Charcot Marie Tooth disease, axonal, type 2L, 608673
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	HSPB1	Ellen McDonagh gene: HSPB1 was added gene: HSPB1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: HSPB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HSPB1 were set to 15122254; 28379183 Phenotypes for gene: HSPB1 were set to Charcot Marie Tooth disease, axonal, type 2F, 606595; Neuropathy, distal hereditary motor, type IIB, 608634
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	HK1	Ellen McDonagh gene: HK1 was added gene: HK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HK1 were set to Neuropathy, hereditary motor and sensory, Russe type, 605285; Hemolytic anemia due to hexokinase deficiency, 235700
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	HINT1	Ellen McDonagh gene: HINT1 was added gene: HINT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	HARS	Ellen McDonagh gene: HARS was added gene: HARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: HARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	GLA	Ellen McDonagh gene: GLA was added gene: GLA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,London North GLH,Expert Review Green,NHS GMS Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: GLA were set to Cardiomyopathy
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	GJB1	Ellen McDonagh gene: GJB1 was added gene: GJB1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GJB1 were set to 8266101 Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth, X-linked; Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	GDAP1	Ellen McDonagh gene: GDAP1 was added gene: GDAP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GDAP1 were set to 2937239; 11743579 Phenotypes for gene: GDAP1 were set to Charcot Marie Tooth disease, recessive intermediate, A, 608340; Charcot-Marie-Tooth with Vocal Cord Paresis (recessive); Charcot Marie Tooth disease, type 4A, 214400; Charcot Marie Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth, Intermediate (Dominant)
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	GARS	Ellen McDonagh gene: GARS was added gene: GARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GARS were set to 29648643 Phenotypes for gene: GARS were set to Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	GAN	Ellen McDonagh gene: GAN was added gene: GAN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAN were set to 1106248 Phenotypes for gene: GAN were set to Giant axonal neuropathy-1
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	FIG4	Ellen McDonagh gene: FIG4 was added gene: FIG4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIG4 were set to 17572665 Phenotypes for gene: FIG4 were set to Charcot Marie Tooth disease, type 4J, 611228; Amyotrophic lateral sclerosis 11, 612577; Yunis Varon syndrome, 216340
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	FGD4	Ellen McDonagh gene: FGD4 was added gene: FGD4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGD4 were set to 15744041; 17564959 Phenotypes for gene: FGD4 were set to Charcot Marie Tooth disease, type 4H, 609311; Charcot-Marie-Tooth, Type 4
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	FBLN5	Ellen McDonagh gene: FBLN5 was added gene: FBLN5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ELP1	Ellen McDonagh gene: ELP1 was added gene: ELP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELP1 were set to 26392352 Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	EGR2	Ellen McDonagh gene: EGR2 was added gene: EGR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EGR2 were set to 9537424 Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth, Type 1; Charcot Marie Tooth disease, type 1D, 607678
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DYNC1H1	Ellen McDonagh gene: DYNC1H1 was added gene: DYNC1H1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DYNC1H1 were set to 21820100; 26392352 Phenotypes for gene: DYNC1H1 were set to Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600; Charcot Marie Tooth disease, axonal, type 20, 614228
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DNMT1	Ellen McDonagh gene: DNMT1 was added gene: DNMT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNMT1 were set to 21532572 Phenotypes for gene: DNMT1 were set to Dementia, Deafness, and Sensory Neuropathy; Neuropathy, hereditary sensory, type IE, 614116
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	DNM2	Ellen McDonagh gene: DNM2 was added gene: DNM2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM2 were set to 15731758 Phenotypes for gene: DNM2 were set to Charcot Marie Tooth disease, dominant intermediate B, 606482; Lethal congenital contracture syndrome 5, 615368; Charcot Marie Tooth disease, axonal, type 2M, 606482; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth, Intermediate
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	COX6A1	Ellen McDonagh gene: COX6A1 was added gene: COX6A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX6A1 were set to 26302975; 25152455 Phenotypes for gene: COX6A1 were set to Charcot Marie Tooth disease, recessive intermediate D, 616039
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	CHCHD10	Ellen McDonagh gene: CHCHD10 was added gene: CHCHD10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Green,Expert Review Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD10 were set to 25428574 Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type: 615048
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	C12orf65	Ellen McDonagh gene: C12orf65 was added gene: C12orf65 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,South West GLH Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C12orf65 were set to 24198383; 28091420
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	BSCL2	Ellen McDonagh gene: BSCL2 was added gene: BSCL2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BSCL2 were set to 26392352 Phenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome 270685
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	BICD2	Ellen McDonagh gene: BICD2 was added gene: BICD2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,South West GLH Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BICD2 were set to 23664116 Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ATP7A	Ellen McDonagh gene: ATP7A was added gene: ATP7A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP7A were set to 20170900 Phenotypes for gene: ATP7A were set to Hereditary Neuropathies
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ATM	Ellen McDonagh gene: ATM was added gene: ATM was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Green,South West GLH Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Hereditary Neuropathies; Ataxia-telangiectasia
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ATL3	Ellen McDonagh gene: ATL3 was added gene: ATL3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Green,Expert Review Mode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATL3 were set to 24459106; 24736309
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ATL1	Ellen McDonagh gene: ATL1 was added gene: ATL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATL1 were set to 21194679 Phenotypes for gene: ATL1 were set to Neuropathy, hereditary sensory, type ID, 613708
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ARHGEF10	Ellen McDonagh gene: ARHGEF10 was added gene: ARHGEF10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: ARHGEF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARHGEF10 were set to 14508709 Phenotypes for gene: ARHGEF10 were set to ?Slowed nerve conduction velocity, AD, 608236
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	AIFM1	Ellen McDonagh gene: AIFM1 was added gene: AIFM1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Green,Expert Review Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to 3856385 Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6; Cowchock syndrome
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	ABCA1	Ellen McDonagh gene: ABCA1 was added gene: ABCA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA1 were set to 29582519 Phenotypes for gene: ABCA1 were set to pain, paresthesias, anaesthesia; Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly; Tangier disease, 205400
05 Dec 2019	Hereditary neuropathy or pain disorder v0.1	AARS	Ellen McDonagh gene: AARS was added gene: AARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AARS were set to 20045102; 26032230, 26392352 Phenotypes for gene: AARS were set to Charcot Marie Tooth disease, axonal, type 2N, 613287; Charcot-Marie-Tooth, Type 2
05 Dec 2019	Hereditary neuropathy or pain disorder v0.0		Ellen McDonagh Added Panel Hereditary neuropathy NOT PMP22 copy number