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24 Jan 2024	Hereditary neuropathy v1.476	MME	Arina Puzriakova changed review comment from: Comment on mode of inheritance: Updating from 'biallelic' to 'both mono- and biallelic' inline with MOI on equivalent GMS panel (R78 Hereditary neuropathy or pain disorder). "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"; to: Comment on mode of inheritance: Updating from 'biallelic' to 'both mono- and biallelic' inline with MOI on equivalent GMS panel (R78 Hereditary neuropathy or pain disorder v3.24). "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"
24 Jan 2024	Hereditary neuropathy v1.476	MME	Arina Puzriakova Added comment: Comment on mode of inheritance: Updating from 'biallelic' to 'both mono- and biallelic' inline with MOI on equivalent GMS panel (R78 Hereditary neuropathy or pain disorder). "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"
24 Jan 2024	Hereditary neuropathy v1.476	MME	Arina Puzriakova Mode of inheritance for gene: MME was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Jan 2024	Hereditary neuropathy v1.475	PRX	Arina Puzriakova Publications for gene: PRX were set to 11157804; 10848494
23 Jan 2024	Hereditary neuropathy v1.474	PRX	Arina Puzriakova Phenotypes for gene: PRX were changed from Dejerine Sottas disease, autosomal recessive, 145900; Charcot Marie Tooth disease, type 4F, 614895; Dejerine Sottas disease, autosomal recessive, 145900 to Charcot-Marie-Tooth disease, type 4F, OMIM:614895; Dejerine-Sottas disease, OMIM:145900
03 Jan 2024	Hereditary neuropathy v1.473	SLC12A6	Arina Puzriakova Phenotypes for gene: SLC12A6 were changed from Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; 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
07 Nov 2023	Hereditary neuropathy v1.472	VRK1	Dmitrijs Rots reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37257665; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Oct 2023	Hereditary neuropathy v1.472	MT-ATP6	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
12 Sep 2023	Hereditary neuropathy v1.472	MT-ATP6	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
28 Jul 2023	Hereditary neuropathy v1.472	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.
28 Jul 2023	Hereditary neuropathy v1.472	DNAJC3	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence (six unrelated families) available for promoting this gene to green rating.; to: Comment on list classification: There is sufficient evidence (six unrelated families) available for promoting this gene to green rating in this panel.
28 Jul 2023	Hereditary neuropathy v1.472	DNAJC3	Achchuthan Shanmugasundram Classified gene: DNAJC3 as Green List (high evidence)
28 Jul 2023	Hereditary neuropathy v1.472	DNAJC3	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (six unrelated families) available for promoting this gene to green rating.
28 Jul 2023	Hereditary neuropathy v1.472	DNAJC3	Achchuthan Shanmugasundram Gene: dnajc3 has been classified as Green List (High Evidence).
28 Jul 2023	Hereditary neuropathy v1.471	DNAJC3	Achchuthan Shanmugasundram Publications for gene: DNAJC3 were set to 25466870
28 Jul 2023	Hereditary neuropathy v1.470	DNAJC3	Achchuthan Shanmugasundram reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466870, 28940199, 32738013, 33486469, 34654017; 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 v1.470	PPOX	Achchuthan Shanmugasundram Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
27 Jul 2023	Hereditary neuropathy v1.469	PPOX	Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: PPOX.
27 Jul 2023	Hereditary neuropathy v1.469	PPOX	Achchuthan Shanmugasundram changed review comment from: 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 can be updated from "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" in the next GMS review.; to: 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".
27 Jul 2023	Hereditary neuropathy v1.469	PPOX	Achchuthan Shanmugasundram Tag Q3_23_MOI tag was added to gene: PPOX.
27 Jul 2023	Hereditary neuropathy v1.469	PPOX	Achchuthan Shanmugasundram Added comment: 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 can 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 v1.469	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 v1.468	PPOX	Achchuthan Shanmugasundram Publications for gene: PPOX were set to 8290408; 10870850; 11286631
27 Jul 2023	Hereditary neuropathy v1.467	PPOX	Achchuthan Shanmugasundram Publications for gene: PPOX were set to
27 Jul 2023	Hereditary neuropathy v1.466	PPOX	Achchuthan Shanmugasundram edited their review of gene: PPOX: Changed rating: GREEN
27 Jul 2023	Hereditary neuropathy v1.466	PPOX	Achchuthan Shanmugasundram reviewed gene: PPOX: Rating: ; 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
07 May 2023	Hereditary neuropathy v1.466	MYO9B	Dmitrijs Rots gene: MYO9B was added gene: MYO9B was added to Hereditary neuropathy. 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 Review for gene: MYO9B was set to GREEN Added comment: 2 families with 4 affected cases + functional studies reported in 36260368 Sources: Literature
13 Apr 2023	Hereditary neuropathy v1.466	SUCLA2	Arina Puzriakova Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073; Leigh like syndrome, deafness, progressive dystonia, mild methylmaolic acidaemia to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
11 Apr 2023	Hereditary neuropathy v1.465	SPG7	Sarah Leigh commented on gene: SPG7
11 Apr 2023	Hereditary neuropathy v1.465	SPG7	Sarah Leigh Publications for gene: SPG7 were set to
11 Apr 2023	Hereditary neuropathy v1.464	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 v1.463	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
14 Mar 2023	Hereditary neuropathy v1.462	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
28 Feb 2023	Hereditary neuropathy v1.461	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
10 Feb 2023	Hereditary neuropathy v1.460	IGHMBP2	Achchuthan Shanmugasundram Publications for gene: IGHMBP2 were set to 26392352
03 Feb 2023	Hereditary neuropathy v1.459	SETX	Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: SETX.
03 Feb 2023	Hereditary neuropathy v1.459	SETX	Achchuthan Shanmugasundram Mode of inheritance for gene: SETX was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
02 Feb 2023	Hereditary neuropathy v1.458	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 v1.458	ISCA-37436-Gain	Arina Puzriakova changed review comment from: New green region added based on ClinGen Region Curation Results (version on 05 Aug 2022) following NHS Genomic Medicine Service approval. Additional comments: About 80% of hereditary neuropathy with liability to pressure palsies (HNPP) cases associated with this recurrent region.; to: Genomic coordinates updated based on ClinGen Region Curation Results (version on 05 Aug 2022) following NHS Genomic Medicine Service approval. Additional comments: About 80% of hereditary neuropathy with liability to pressure palsies (HNPP) cases associated with this recurrent region.
02 Feb 2023	Hereditary neuropathy v1.458	ISCA-37436-Gain	Arina Puzriakova edited their review of Region: ISCA-37436-Gain: Added comment: New green region added based on ClinGen Region Curation Results (version on 05 Aug 2022) following NHS Genomic Medicine Service approval. Additional comments: About 80% of hereditary neuropathy with liability to pressure palsies (HNPP) cases associated with this recurrent region.; Changed rating: GREEN
02 Feb 2023	Hereditary neuropathy v1.458	ISCA-37436-Loss	Arina Puzriakova GRCh38 position for ISCA-37436-Loss was changed from 14194598-15567587 to 14194598-15519638.
02 Feb 2023	Hereditary neuropathy v1.458	ISCA-37436-Gain	Arina Puzriakova GRCh38 position for ISCA-37436-Gain was changed from 14194598-15567587 to 14194598-15519638.
08 Jan 2023	Hereditary neuropathy v1.457	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
24 Nov 2022	Hereditary neuropathy v1.457	ARHGEF10	Dmitrijs Rots reviewed gene: ARHGEF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
21 Nov 2022	Hereditary neuropathy v1.457	FAM126A	Eleanor Williams commented on gene: FAM126A
21 Nov 2022	Hereditary neuropathy v1.457	FAM126A	Eleanor Williams Tag new-gene-name tag was added to gene: FAM126A.
03 Nov 2022	Hereditary neuropathy v1.457	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; Neuropathy, hereditary motor and sensory, Russe type, 605285 to Neuropathy, hereditary motor and sensory, Russe type, OMIM:605285
25 Oct 2022	Hereditary neuropathy v1.456	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
06 Oct 2022	Hereditary neuropathy v1.455	SLC12A6	Eleanor Williams commented on gene: SLC12A6: Removed the for-review tag as this is a 100,000 genomes project panel that does not need GMS approval for changes.
06 Oct 2022	Hereditary neuropathy v1.455	SLC12A6	Eleanor Williams Added comment: Comment on mode of inheritance: Changing the mode of inheritance as this is a 100K only panel.
06 Oct 2022	Hereditary neuropathy v1.455	SLC12A6	Eleanor Williams Mode of inheritance for gene: SLC12A6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Oct 2022	Hereditary neuropathy v1.454	SLC12A6	Eleanor Williams Tag for-review was removed from gene: SLC12A6.
03 Aug 2022	Hereditary neuropathy v1.454	SH3TC2	Arina Puzriakova Mode of inheritance for gene: SH3TC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
03 Aug 2022	Hereditary neuropathy v1.453	SH3TC2	Arina Puzriakova Tag Q2_22_MOI was removed from gene: SH3TC2.
10 May 2022	Hereditary neuropathy v1.453	TAZ	Arina Puzriakova commented on gene: TAZ
10 May 2022	Hereditary neuropathy v1.453	TAZ	Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
08 May 2022	Hereditary neuropathy v1.453	MT-ATP6	Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
07 May 2022	Hereditary neuropathy v1.453	C1orf194	Eleanor Williams commented on gene: C1orf194: Added new-gene-name tag, new approved HGNC gene symbol for C1orf194 is CFAP276.
07 May 2022	Hereditary neuropathy v1.453	C1orf194	Eleanor Williams Tag new-gene-name tag was added to gene: C1orf194.
07 May 2022	Hereditary neuropathy v1.453	C1orf194	Eleanor Williams commented on gene: C1orf194
07 May 2022	Hereditary neuropathy v1.453	C1orf194	Eleanor Williams Tag Q3_21_NHS_review was removed from gene: C1orf194.
07 May 2022	Hereditary neuropathy v1.453	C1orf194	Eleanor Williams Tag gene-checked tag was added to gene: C1orf194.
04 May 2022	Hereditary neuropathy v1.453	MT-TL1	Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1.
03 May 2022	Hereditary neuropathy v1.453	MT-RNR1	Arina Puzriakova Tag gene-checked tag was added to gene: MT-RNR1.
19 Apr 2022	Hereditary neuropathy v1.453	SH3TC2	Sarah Leigh Phenotypes for gene: SH3TC2 were changed from Mononeuropathy of the median nerve, mild, 613353; Charcot Marie Tooth disease, type 4C, 601596 to Charcot-Marie-Tooth disease, type 4C, OMIM:601596; Mononeuropathy of the median nerve, mild, OMIM:613353
19 Apr 2022	Hereditary neuropathy v1.452	SH3TC2	Sarah Leigh Tag Q2_22_MOI tag was added to gene: SH3TC2.
19 Apr 2022	Hereditary neuropathy v1.452	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 v1.452	SETX	Sarah Leigh Tag Q2_22_MOI tag was added to gene: SETX.
19 Apr 2022	Hereditary neuropathy v1.452	SETX	Sarah Leigh edited their review of gene: SETX: Added comment: The Q2_22_MOI tag has been added to this gene as the MOI should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal, as both Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002;Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 are relevant to this panel.; Changed phenotypes to: Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002, Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
19 Apr 2022	Hereditary neuropathy v1.452	SETX	Sarah Leigh Phenotypes for gene: SETX were changed from to Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002; Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
19 Apr 2022	Hereditary neuropathy v1.451	SETX	Sarah Leigh Added comment: Comment on publications: 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;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.
19 Apr 2022	Hereditary neuropathy v1.451	SETX	Sarah Leigh Publications for gene: SETX were set to 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; 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.
13 Apr 2022	Hereditary neuropathy v1.450	OPA1	Arina Puzriakova Publications for gene: OPA1 were set to
13 Apr 2022	Hereditary neuropathy v1.449	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 v1.449	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 v1.448	OPA1	Arina Puzriakova Phenotypes for gene: OPA1 were changed from Optic atrophy 1, 165500; Optic atrophy plus syndrome, 125250; Optic neuropathy, PEO, deafness, myelopathy, sensory-motor axonal neuropathy to Optic atrophy plus syndrome, OMIM:125250; Behr syndrome, OMIM:210000
12 Apr 2022	Hereditary neuropathy v1.447	MFN2	Arina Puzriakova Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth, Type 2 (Dominant); MFN2 axonal neuropathy; MFN2 axonal neuropathy; Charcot-Marie-Tooth, Type 2 (Dominant); Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive); 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
05 Apr 2022	Hereditary neuropathy v1.446	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 v1.445	GDAP1	Arina Puzriakova Phenotypes for gene: GDAP1 were changed from Charcot Marie Tooth disease, axonal, type 2K, 607831; Charcot Marie Tooth disease, type 4A, 214400; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot Marie Tooth disease, type 4A, 214400; Charcot Marie Tooth disease, recessive intermediate, A, 608340; Charcot Marie Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot-Marie-Tooth with Vocal Cord Paresis (recessive); Charcot Marie Tooth disease, recessive intermediate, A, 608340 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 v1.444	ELP1	Arina Puzriakova Phenotypes for gene: ELP1 were changed from Dysautonomia, familial, 223900 to Dysautonomia, familial, OMIM:223900
28 Mar 2022	Hereditary neuropathy v1.443	WNK1	Arina Puzriakova Phenotypes for gene: WNK1 were changed from Hereditary Sensory and Autonomic Neuropathy, Type II; Pseudohypoaldosteronism, type IIC, 614492; 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
16 Mar 2022	Hereditary neuropathy v1.442	ISCA-37436-Gain	Arina Puzriakova commented on Region: ISCA-37436-Gain
16 Mar 2022	Hereditary neuropathy v1.442	ISCA-37436-Loss	Eleanor Williams commented on Region: ISCA-37436-Loss
16 Mar 2022	Hereditary neuropathy v1.442	ISCA-37436-Loss	Arina Puzriakova Required Overlap Percentage for ISCA-37436-Loss was changed from 80 to 60.
16 Mar 2022	Hereditary neuropathy v1.442	ISCA-37436-Gain	Arina Puzriakova Required Overlap Percentage for ISCA-37436-Gain was changed from 80 to 60.
15 Mar 2022	Hereditary neuropathy v1.441	PPP2R2B_CAG	Arina Puzriakova commented on STR: PPP2R2B_CAG
15 Mar 2022	Hereditary neuropathy v1.441	NOP56_GGCCTG	Arina Puzriakova commented on STR: NOP56_GGCCTG
15 Mar 2022	Hereditary neuropathy v1.441	FXN_GAA	Sarah Leigh commented on STR: FXN_GAA
15 Mar 2022	Hereditary neuropathy v1.441	FMR1_CGG	Sarah Leigh commented on STR: FMR1_CGG
15 Mar 2022	Hereditary neuropathy v1.441	ATXN7_CAG	Eleanor Williams commented on STR: ATXN7_CAG
15 Mar 2022	Hereditary neuropathy v1.441	ATXN3_CAG	Eleanor Williams commented on STR: ATXN3_CAG
15 Mar 2022	Hereditary neuropathy v1.441	ATXN2_CAG	Ivone Leong commented on STR: ATXN2_CAG
15 Mar 2022	Hereditary neuropathy v1.441	ATXN10_ATTCT	Ivone Leong commented on STR: ATXN10_ATTCT
15 Mar 2022	Hereditary neuropathy v1.441	ATXN1_CAG	Ivone Leong commented on STR: ATXN1_CAG
15 Mar 2022	Hereditary neuropathy v1.441	AR_CAG	Ivone Leong commented on STR: AR_CAG
10 Mar 2022	Hereditary neuropathy v1.441	FXN_GAA	Arina Puzriakova Classified STR: FXN_GAA as Green List (high evidence)
10 Mar 2022	Hereditary neuropathy v1.441	FXN_GAA	Arina Puzriakova Str: fxn_gaa has been classified as Green List (High Evidence).
10 Mar 2022	Hereditary neuropathy v1.440	ATXN3_CAG	Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
10 Mar 2022	Hereditary neuropathy v1.440	ATXN3_CAG	Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
10 Mar 2022	Hereditary neuropathy v1.439	ATXN2_CAG	Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
10 Mar 2022	Hereditary neuropathy v1.439	ATXN2_CAG	Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
10 Mar 2022	Hereditary neuropathy v1.438	ATXN10_ATTCT	Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
10 Mar 2022	Hereditary neuropathy v1.438	ATXN10_ATTCT	Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
10 Mar 2022	Hereditary neuropathy v1.437	ATXN1_CAG	Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
10 Mar 2022	Hereditary neuropathy v1.437	ATXN1_CAG	Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
10 Mar 2022	Hereditary neuropathy v1.434	PPP2R2B_CAG	Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43. Source NHS GMS was added to STR: PPP2R2B_CAG.
10 Mar 2022	Hereditary neuropathy v1.434	NOP56_GGCCTG	Arina Puzriakova Source NHS GMS was added to STR: NOP56_GGCCTG.
10 Mar 2022	Hereditary neuropathy v1.434	FXN_GAA	Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA. Rating Changed from Green List (high evidence) to Red List (low evidence)
10 Mar 2022	Hereditary neuropathy v1.434	FMR1_CGG	Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
10 Mar 2022	Hereditary neuropathy v1.434	ATXN7_CAG	Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37. Source NHS GMS was added to STR: ATXN7_CAG.
10 Mar 2022	Hereditary neuropathy v1.434	ATXN3_CAG	Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45. Source NHS GMS was added to STR: ATXN3_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
10 Mar 2022	Hereditary neuropathy v1.434	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35. Source NHS GMS was added to STR: ATXN2_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
10 Mar 2022	Hereditary neuropathy v1.434	ATXN10_ATTCT	Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33. Source NHS GMS was added to STR: ATXN10_ATTCT. Rating Changed from Green List (high evidence) to Red List (low evidence)
10 Mar 2022	Hereditary neuropathy v1.434	ATXN1_CAG	Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45. Source NHS GMS was added to STR: ATXN1_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
10 Mar 2022	Hereditary neuropathy v1.434	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.
14 Feb 2022	Hereditary neuropathy v1.433	TWNK	Arina Puzriakova Mode of inheritance for gene: TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
14 Dec 2021	Hereditary neuropathy v1.432	MME	Arina Puzriakova Publications for gene: MME were set to 26991897; 27588448
14 Dec 2021	Hereditary neuropathy v1.431	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
11 Nov 2021	Hereditary neuropathy v1.430	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 v1.429	FXN_GAA	Arina Puzriakova Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
11 Nov 2021	Hereditary neuropathy v1.428	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 v1.428	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 v1.427	FXN	Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: FXN.
11 Nov 2021	Hereditary neuropathy v1.427	NOP56_GGCCTGTT	Arina Puzriakova Phenotypes for STR: NOP56_GGCCTGTT were changed from to Spinocerebellar ataxia 36, OMIM:614153
11 Nov 2021	Hereditary neuropathy v1.426	NOP56_GGCCTG	Arina Puzriakova Phenotypes for STR: NOP56_GGCCTG were changed from Spinocerebellar ataxia 36, 614153Late adult onset gait ataxia, tongue atrophy and fasciculation, distal motor neuropathy to Spinocerebellar ataxia 36, OMIM:614153
10 Nov 2021	Hereditary neuropathy v1.425	PPP2R2B_CAG	Arina Puzriakova Phenotypes for STR: PPP2R2B_CAG were changed from Spinocerebellar ataxia 12 604326; Adult onset cerebellar ataxia, tremor of head and arms, subclinical sensory-motor axonal neuropathy; neuropathy minor feature to Spinocerebellar ataxia 12, OMIM:604326
10 Nov 2021	Hereditary neuropathy v1.424	FMR1_CGG	Arina Puzriakova Phenotypes for STR: FMR1_CGG were changed from Fragile X syndrome 300624; Late onset tremor, ataxia, parkinsonism, sensory axonal neuropathy, middle cerebellar peduncle changes on MRI to Fragile X syndrome, OMIM:300624; Fragile X tremor/ataxia syndrome, OMIM:300623
10 Nov 2021	Hereditary neuropathy v1.423	FMR1_CGG	Arina Puzriakova Tag currently-ngs-unreportable was removed from STR: FMR1_CGG.
09 Nov 2021	Hereditary neuropathy v1.423	ATXN1_CAG	Arina Puzriakova Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400
05 Nov 2021	Hereditary neuropathy v1.422	ATXN7_CAG	Arina Puzriakova Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500; Adult onset, cerebellar ataxia, pigmentary macular degeneration, sensory-motor axonal neuropathy to Spinocerebellar ataxia 7, OMIM:164500
05 Nov 2021	Hereditary neuropathy v1.421	ATXN3_CAG	Arina Puzriakova Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease, OMIM:109150
05 Nov 2021	Hereditary neuropathy v1.420	ATXN2_CAG	Arina Puzriakova Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
05 Nov 2021	Hereditary neuropathy v1.419	ATXN10_ATTCT	Arina Puzriakova Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10, OMIM:603516
26 Oct 2021	Hereditary neuropathy v1.418	CPOX	Ivone Leong Mode of inheritance for gene: CPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
26 Oct 2021	Hereditary neuropathy v1.417	CPOX	Ivone Leong Tag Q4_21_MOI was removed from gene: CPOX.
26 Oct 2021	Hereditary neuropathy v1.417	CPOX	Ivone Leong Tag Q4_21_MOI tag was added to gene: CPOX.
26 Oct 2021	Hereditary neuropathy v1.417	CPOX	Ivone Leong reviewed gene: CPOX: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
19 Oct 2021	Hereditary neuropathy v1.417	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
06 Oct 2021	Hereditary neuropathy v1.416	AIFM1	Arina Puzriakova Phenotypes for gene: AIFM1 were changed from Cowchock syndrome; Combined oxidative phosphorylation deficiency 6 to Cowchock syndrome, OMIM:310490; Combined oxidative phosphorylation deficiency 6, OMIM:300816
09 Sep 2021	Hereditary neuropathy v1.415	C1orf194	Sarah Leigh Classified gene: C1orf194 as Green List (high evidence)
09 Sep 2021	Hereditary neuropathy v1.415	C1orf194	Sarah Leigh Gene: c1orf194 has been classified as Green List (High Evidence).
09 Sep 2021	Hereditary neuropathy v1.414	C1orf194	Sarah Leigh Entity copied from Hereditary neuropathy NOT PMP22 copy number v1.61
09 Sep 2021	Hereditary neuropathy v1.414	C1orf194	Sarah Leigh gene: C1orf194 was added gene: C1orf194 was added to Hereditary neuropathy. Sources: Expert Review Amber,Literature Q3_21_NHS_review tags were added to gene: C1orf194. Mode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: C1orf194 were set to 31199454; 32592472 Phenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth disease, intermediate or demyelinating
09 Sep 2021	Hereditary neuropathy v1.413	C1orf94	Sarah Leigh Tag curated_removed tag was added to gene: C1orf94.
09 Sep 2021	Hereditary neuropathy v1.413	C1orf94	Sarah Leigh Classified gene: C1orf94 as No list
09 Sep 2021	Hereditary neuropathy v1.413	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 v1.413	C1orf94	Sarah Leigh Gene: c1orf94 has been removed from the panel.
07 Sep 2021	Hereditary neuropathy v1.412	C1orf94	Sarah Leigh Classified gene: C1orf94 as Green List (high evidence)
07 Sep 2021	Hereditary neuropathy v1.412	C1orf94	Sarah Leigh Added comment: Comment on list classification: 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 v1.412	C1orf94	Sarah Leigh Gene: c1orf94 has been classified as Green List (High Evidence).
07 Sep 2021	Hereditary neuropathy v1.411	C1orf94	Sarah Leigh Phenotypes for gene: C1orf94 were changed from Intermediate CMT to Intermediate Charcot-Marie-Tooth disease
07 Sep 2021	Hereditary neuropathy v1.410	C1orf94	Sarah Leigh Publications for gene: C1orf94 were set to 31199454
07 Sep 2021	Hereditary neuropathy v1.409	C1orf94	Sarah Leigh Publications for gene: C1orf94 were set to PMID: 31199454
06 Sep 2021	Hereditary neuropathy v1.408	JAG1	Arina Puzriakova Tag watchlist tag was added to gene: JAG1.
06 Sep 2021	Hereditary neuropathy v1.408	JAG1	Arina Puzriakova Phenotypes for gene: JAG1 were changed from Vocal cord palsy to Vocal cord palsy; Peripheral neuropathy
06 Sep 2021	Hereditary neuropathy v1.407	JAG1	Arina Puzriakova Classified gene: JAG1 as Amber List (moderate evidence)
06 Sep 2021	Hereditary neuropathy v1.407	JAG1	Arina Puzriakova Added comment: Comment on list classification: New gene added by Alexander Rossor (UCL). 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 v1.407	JAG1	Arina Puzriakova Gene: jag1 has been classified as Amber List (Moderate Evidence).
26 Aug 2021	Hereditary neuropathy v1.406	GALC	Arina Puzriakova Phenotypes for gene: GALC were changed from Krabbe disease, 245200; 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 to Krabbe disease, OMIM:245200
23 Aug 2021	Hereditary neuropathy v1.405	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 v1.404	TFG	Arina Puzriakova Publications for gene: TFG were set to
23 Aug 2021	Hereditary neuropathy v1.403	TFG	Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI 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 v1.403	TFG	Arina Puzriakova Mode of inheritance for gene: TFG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Aug 2021	Hereditary neuropathy v1.402	TFG	Arina Puzriakova Phenotypes for gene: TFG were changed from Hereditary motor and sensory neuropathy, proximal type, 604484; Chondrosarcoma, extraskeletal myxoid, 612237; Hereditary motor and sensory neuropathy, Okinawa type to Hereditary motor and sensory neuropathy, Okinawa type, OMIM:604484; Spastic paraplegia 57, autosomal recessive, OMIM:615658
20 Aug 2021	Hereditary neuropathy v1.401	SPART	Arina Puzriakova Mode of inheritance for gene: SPART was changed from to BIALLELIC, autosomal or pseudoautosomal
17 Aug 2021	Hereditary neuropathy v1.400	FIG4	Sarah Leigh Mode of inheritance for gene: FIG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
17 Aug 2021	Hereditary neuropathy v1.399	FIG4	Sarah Leigh reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
12 Aug 2021	Hereditary neuropathy v1.399	SORD	Sarah Leigh Classified gene: SORD as Green List (high evidence)
12 Aug 2021	Hereditary neuropathy v1.399	SORD	Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 7 variants reported in unrelated cases. Functional studies showed undetectable SORD protein levels and increased intracellular sorbitol accumulation in patient fibroblasts compared to controls (PMID 32367058).
12 Aug 2021	Hereditary neuropathy v1.399	SORD	Sarah Leigh Gene: sord has been classified as Green List (High Evidence).
12 Aug 2021	Hereditary neuropathy v1.398	SORD	Sarah Leigh Publications for gene: SORD were set to PMID: 32367058
12 Aug 2021	Hereditary neuropathy v1.397	SORD	Sarah Leigh Phenotypes for gene: SORD were changed from CMT2 to Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912; sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055
12 Aug 2021	Hereditary neuropathy v1.396	VWA1	Sarah Leigh Publications for gene: VWA1 were set to 33559681; 33459760
12 Aug 2021	Hereditary neuropathy v1.395	VWA1	Sarah Leigh Classified gene: VWA1 as Green List (high evidence)
12 Aug 2021	Hereditary neuropathy v1.395	VWA1	Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least five variants reported in numerous unrelated cases (PMID 33559681; 33459760). Supportive Zebra fish morpholino studies have also been presented (PMID 33559681; 33015062).
12 Aug 2021	Hereditary neuropathy v1.395	VWA1	Sarah Leigh Gene: vwa1 has been classified as Green List (High Evidence).
12 Aug 2021	Hereditary neuropathy v1.394	VWA1	Sarah Leigh Publications for gene: VWA1 were set to 33459760
12 Aug 2021	Hereditary neuropathy v1.393	VWA1	Sarah Leigh Publications for gene: VWA1 were set to PMID: 33459760
12 Aug 2021	Hereditary neuropathy v1.392	VWA1	Sarah Leigh Phenotypes for gene: VWA1 were changed from hereditary motor neuropathy to Neuropathy, hereditary motor, with myopathic features OMIM:619216; neuropathy, hereditary motor, with myopathic features MONDO:0030977
05 Aug 2021	Hereditary neuropathy v1.391	KIF1A	Arina Puzriakova Phenotypes for gene: KIF1A were changed from Neuropathy, hereditary sensory, type IIC, 614213; Hereditary Sensory and Autonomic Neuropathy, Type II 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 v1.390	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 has been changed from 'biallelic' to 'both mono- and biallelic'
05 Aug 2021	Hereditary neuropathy v1.390	KIF1A	Arina Puzriakova Mode of inheritance for gene: KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
28 Jul 2021	Hereditary neuropathy v1.389	BSCL2	Arina Puzriakova Phenotypes for gene: BSCL2 were changed from Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Lipodystrophy, congenital generalized, type 2 269700; Silver spastic paraplegia syndrome 270685 to Neuropathy, distal hereditary motor, type VC, OMIM:619112
27 Jul 2021	Hereditary neuropathy v1.388	KIF1A	Dmitrijs Rots reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SPASTIC PARAPLEGIA 30, NESCAV SYNDROME; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
22 Jul 2021	Hereditary neuropathy v1.388	XK	Ivone Leong Phenotypes for gene: XK were changed from McLeod syndrome with or without chronic granulomatous disease, 300842; Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy to McLeod syndrome with or without chronic granulomatous disease,OMIM:300842; McLeod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy
06 Jul 2021	Hereditary neuropathy v1.387	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 v1.386	XRCC1	Arina Puzriakova Phenotypes for gene: XRCC1 were changed from Spinocerebellar ataxia, autosomal recessive 26, 617633; Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy to Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633
11 May 2021	Hereditary neuropathy v1.385	FXN	Sarah Leigh Phenotypes for gene: FXN were changed from Hereditary Neuropathies; Friedreich ataxia, 229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
13 Apr 2021	Hereditary neuropathy v1.384	COA7	Sarah Leigh Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
08 Mar 2021	Hereditary neuropathy v1.383	VWA1	Alexander Rossor gene: VWA1 was added gene: VWA1 was added to Hereditary neuropathy. Sources: Expert list Mode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VWA1 were set to PMID: 33459760 Phenotypes for gene: VWA1 were set to hereditary motor neuropathy Penetrance for gene: VWA1 were set to Complete Mode of pathogenicity for gene: VWA1 was set to Other Review for gene: VWA1 was set to GREEN Added comment: Bialleleic mutations in 6 unrelated families with a common phenotype Sources: Expert list
08 Mar 2021	Hereditary neuropathy v1.383	JAG1	Alexander Rossor gene: JAG1 was added gene: JAG1 was added to Hereditary neuropathy. Sources: Expert list Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: JAG1 were set to PMID: 32065591 Phenotypes for gene: JAG1 were set to Vocal cord palsy Penetrance for gene: JAG1 were set to Complete Mode of pathogenicity for gene: JAG1 was set to Other Review for gene: JAG1 was set to AMBER Added comment: Two unrelated families with segregation but no definite neuropathy in knock in mouse model Sources: Expert list
08 Mar 2021	Hereditary neuropathy v1.383	C1orf94	Alexander Rossor gene: C1orf94 was added gene: C1orf94 was added to Hereditary neuropathy. 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 PMID: 31199454 Phenotypes for gene: C1orf94 were set to Intermediate CMT Penetrance for gene: C1orf94 were set to Complete Mode of pathogenicity for gene: C1orf94 was set to Other Review for gene: C1orf94 was set to GREEN Added comment: Two unrelated families, knock in mouse with relevant phenotype. Functional evidence for one variant only Sources: Expert list
08 Mar 2021	Hereditary neuropathy v1.383	SORD	Alexander Rossor gene: SORD was added gene: SORD was added to Hereditary neuropathy. Sources: Expert list Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SORD were set to PMID: 32367058 Phenotypes for gene: SORD were set to CMT2 Penetrance for gene: SORD were set to Complete Review for gene: SORD was set to GREEN Added comment: bialleleic variants present in more than 3 unrelated families Sources: Expert list
01 Mar 2021	Hereditary neuropathy v1.383	NOP56_GGCCTGTT	Arina Puzriakova Tag STR tag was added to STR: NOP56_GGCCTGTT. Tag curated_removed tag was added to STR: NOP56_GGCCTGTT.
24 Feb 2021	Hereditary neuropathy v1.383	C12orf65	Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
24 Feb 2021	Hereditary neuropathy v1.383	C12orf65	Catherine Snow commented on gene: C12orf65
25 Jan 2021	Hereditary neuropathy v1.383	PNKP	Sarah Leigh Phenotypes for gene: PNKP were changed from Ataxia-oculomotor apraxia 4, 616267; Microcephaly, seizures, and developmental delay, 613402; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy to ?Charcot-Marie-Tooth disease, type 2B2 605589; Ataxia-oculomotor apraxia 4 OMIM:616267; Microcephaly, seizures, and developmental delay OMIM:613402
25 Jan 2021	Hereditary neuropathy v1.382	PNKP	Sarah Leigh Classified gene: PNKP as Green List (high evidence)
25 Jan 2021	Hereditary neuropathy v1.382	PNKP	Sarah Leigh Gene: pnkp has been classified as Green List (High Evidence).
25 Jan 2021	Hereditary neuropathy v1.381	PNKP	Sarah Leigh reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27066567; Phenotypes: ; Mode of inheritance: None
13 Jan 2021	Hereditary neuropathy v1.381	PNKP	Dmitrijs Rots changed review comment from: In PMID: 30039206 reported a homozygous nonsense variant in a large Costa Rican family segregating with CMT2 phenotype. Additional 5 cases with compound heterozygous nonsense variants and CMT2 phenotype also reported. Some patients have Ataxia, but not oculomotor apraxia or Microcephaly, seizures, and developmental delay.; to: In PMID: 30039206 reported a homozygous nonsense variant in a large Costa Rican family segregating with CMT2 phenotype. Additional 5 cases with compound heterozygous nonsense variants and CMT2 phenotype also reported. Some patients have Ataxia, but not oculomotor apraxia or Microcephaly, seizures, and developmental delay.
13 Jan 2021	Hereditary neuropathy v1.381	PNKP	Dmitrijs Rots reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30039206; Phenotypes: Polyneuropathy, ataxia; Mode of inheritance: None; Current diagnostic: yes
18 Dec 2020	Hereditary neuropathy v1.381	AARS	Arina Puzriakova Phenotypes for gene: AARS were changed from Charcot-Marie-Tooth, Type 2 ; 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
11 Nov 2020	Hereditary neuropathy v1.380	MAP1B	Arina Puzriakova Classified gene: MAP1B as Red List (low evidence)
11 Nov 2020	Hereditary neuropathy v1.380	MAP1B	Arina Puzriakova Added comment: Comment on list classification: Rating Red as only a single family reported with a homozygous MAP1B variant and polyneuropathy. Furthermore, the article identified by the expert reviewer is currently not published in PubMed. Additional cases required to support this gene-disease association.
11 Nov 2020	Hereditary neuropathy v1.380	MAP1B	Arina Puzriakova Gene: map1b has been classified as Red List (Low Evidence).
10 Nov 2020	Hereditary neuropathy v1.379	SPTBN4	Arina Puzriakova Classified gene: SPTBN4 as Green List (high evidence)
10 Nov 2020	Hereditary neuropathy v1.379	SPTBN4	Arina Puzriakova Added comment: Comment on list classification: New gene added as Green - sufficient number of unrelated cases (at least 5) presenting neuropathy in association with biallelic variants in the SPTBN4 gene.
10 Nov 2020	Hereditary neuropathy v1.379	SPTBN4	Arina Puzriakova Gene: sptbn4 has been classified as Green List (High Evidence).
10 Nov 2020	Hereditary neuropathy v1.378	SPTBN4	Arina Puzriakova gene: SPTBN4 was added gene: SPTBN4 was added to Hereditary neuropathy. Sources: Literature 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 GREEN 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
06 Oct 2020	Hereditary neuropathy v1.377	SMN1	Eleanor Williams Publications for gene: SMN1 were set to
06 Oct 2020	Hereditary neuropathy v1.376	SMN1	Eleanor Williams reviewed gene: SMN1: Rating: ; Mode of pathogenicity: None; Publications: 32644125, 32644120; Phenotypes: Spinal muscular atrophy; Mode of inheritance: None
01 Sep 2020	Hereditary neuropathy v1.376	DNMT1	Eleanor Williams Publications for gene: DNMT1 were set to 21532572
01 Sep 2020	Hereditary neuropathy v1.375	DNMT1	Eleanor Williams reviewed gene: DNMT1: Rating: ; Mode of pathogenicity: None; Publications: 31984424; Phenotypes: ; Mode of inheritance: None
01 Sep 2020	Hereditary neuropathy v1.375	CHCHD10	Eleanor Williams Publications for gene: CHCHD10 were set to 25428574
01 Sep 2020	Hereditary neuropathy v1.374	CHCHD10	Eleanor Williams reviewed gene: CHCHD10: Rating: ; Mode of pathogenicity: None; Publications: 31261376; Phenotypes: ; Mode of inheritance: None
30 Jul 2020	Hereditary neuropathy v1.374	PMP22	Eleanor Williams reviewed gene: PMP22: Rating: ; Mode of pathogenicity: None; Publications: 32356557; Phenotypes: ; Mode of inheritance: None
13 Jul 2020	Hereditary neuropathy v1.374	SLC12A6	Sarah Leigh Publications for gene: SLC12A6 were set to 12368912; 31439721; 27485015; 16606917; 17893295
13 Jul 2020	Hereditary neuropathy v1.373	SLC12A6	Sarah Leigh Publications for gene: SLC12A6 were set to 12368912; 31439721; 27485015; 12368912; 16606917; 17893295
13 Jul 2020	Hereditary neuropathy v1.372	SLC12A6	Sarah Leigh Publications for gene: SLC12A6 were set to 12368912; 31439721; 27485015
13 Jul 2020	Hereditary neuropathy v1.371	SLC12A6	Sarah Leigh changed review comment from: For-review tag has been added as it mabe appropriate for the MOI to be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified.; to: 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 v1.371	SLC12A6	Sarah Leigh commented on gene: SLC12A6: For-review tag has been added as it mabe appropriate for the MOI to be changed 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 v1.371	SLC12A6	Sarah Leigh Tag for-review tag was added to gene: SLC12A6.
13 Jul 2020	Hereditary neuropathy v1.371	SLC12A6	Sarah Leigh reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12368912, 16606917, 17893295; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy 218000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
13 Jul 2020	Hereditary neuropathy v1.371	SLC12A6	Sarah Leigh Publications for gene: SLC12A6 were set to 12368912; 31439721
08 Jul 2020	Hereditary neuropathy v1.370	SLC12A6	Sarah Leigh Publications for gene: SLC12A6 were set to 12368912
06 Jul 2020	Hereditary neuropathy v1.369	YARS	Sarah Leigh commented on gene: YARS
06 Jul 2020	Hereditary neuropathy v1.369	YARS	Sarah Leigh Tag new-gene-name tag was added to gene: YARS.
30 Jun 2020	Hereditary neuropathy v1.369	MCM3AP	Eleanor Williams Publications for gene: MCM3AP were set to
30 Jun 2020	Hereditary neuropathy v1.368	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
15 Jun 2020	Hereditary neuropathy v1.368	TRPA1	Tracy Lester reviewed gene: TRPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20547126, 25724085; Phenotypes: episodic debilitating upper body pain triggered by fasting, cold and physical stress; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
02 Jun 2020	Hereditary neuropathy v1.368	DMD	Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
24 Mar 2020	Hereditary neuropathy v1.368	MAP1B	Aleš Maver gene: MAP1B was added gene: MAP1B was added to Hereditary neuropathy. Sources: Other Mode of inheritance for gene: MAP1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAP1B were set to https://n.neurology.org/content/92/15_Supplement/P3.4-037 Phenotypes for gene: MAP1B were set to Giant Axonal Neuropathy-like phenotype, polyneuropathy Penetrance for gene: MAP1B were set to unknown Review for gene: MAP1B was set to RED Added comment: A single consanguineous family with three sibs affected by giant axonal neuropathy has been reported with walking difficulty, progressive lower extremity weakness and ataxia. All affected sibs were homozygous for the c.5521A>G, p.M1841V variant in MAP1B. Two brothers homozygous for the variant were also reported to have body mass index over 40. Nerve conduction studies revealed a severe sensory motor polyneuropathy. Sources: Other
13 Jan 2020	Hereditary neuropathy v1.368	SYT2	Louise Daugherty commented on gene: SYT2: As a result of watchlist tag audit the watchlist tag was kept as still relevant to this gene, it was made green on this panel as it represents a broad phenotype
13 Jan 2020	Hereditary neuropathy v1.368	SBF1	Louise Daugherty Tag watchlist was removed from gene: SBF1.
13 Jan 2020	Hereditary neuropathy v1.368	SBF1	Louise Daugherty commented on gene: SBF1: As a result of watchlist tag audit the watchlist tag was removed from SBF1- this is now a green gene with sufficient evidence/review
10 Jan 2020	Hereditary neuropathy v1.368	AR_CAG	Louise Daugherty Classified STR: AR_CAG as Green List (high evidence)
10 Jan 2020	Hereditary neuropathy v1.368	AR_CAG	Louise Daugherty Added comment: Comment on list classification: Upgraded STR from Amber to Green due to feedback from Genomics England clinical team, due to re-analysing a few cases for diagnostic discovery there is enough evidence to support a Green rating on this panel.
10 Jan 2020	Hereditary neuropathy v1.368	AR_CAG	Louise Daugherty Str: ar_cag has been classified as Green List (High Evidence).
10 Jan 2020	Hereditary neuropathy v1.367	AR_CAG	Louise Daugherty Added comment: Comment on publications: added publications to support upgrading from Amber to Green.
10 Jan 2020	Hereditary neuropathy v1.367	AR_CAG	Louise Daugherty Publications for STR: AR_CAG were set to
07 Jan 2020	Hereditary neuropathy v1.366	AR_CAG	Zerin Hyder reviewed STR: AR_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 8469342, 15851746, 1449253; Phenotypes: Spinal and bulbar muscular atrophy or Kennedy diseases 313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
07 Dec 2019	Hereditary neuropathy v1.366	FXN	Louise Daugherty Phenotypes for gene: FXN were changed from Hereditary Neuropathies to Hereditary Neuropathies; Friedreich ataxia, 229300
07 Dec 2019	Hereditary neuropathy v1.365	MTTP	Louise Daugherty Phenotypes for gene: MTTP were changed from Hereditary Neuropathies to Hereditary Neuropathies; Abetalipoproteinemia, 200100
07 Dec 2019	Hereditary neuropathy v1.364	SCN10A	Louise Daugherty Phenotypes for gene: SCN10A were changed from to Episodic pain syndrome, familial, 2, 615551
07 Dec 2019	Hereditary neuropathy v1.363	SYT2	Louise Daugherty Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic to Myasthenic syndrome, congenital, 7, presynaptic, 616040
07 Dec 2019	Hereditary neuropathy v1.362	TRPA1	Louise Daugherty Phenotypes for gene: TRPA1 were changed from to Episodic pain syndrome, familial, 1, 615040
07 Dec 2019	Hereditary neuropathy v1.361	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 v1.360	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 v1.359	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 v1.358	PEX10	Louise Daugherty Mode of inheritance for gene: PEX10 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
07 Dec 2019	Hereditary neuropathy v1.357	PEX10	Louise Daugherty Mode of inheritance for gene: PEX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
07 Dec 2019	Hereditary neuropathy v1.356	MTTP	Louise Daugherty Mode of inheritance for gene: MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal
07 Dec 2019	Hereditary neuropathy v1.355	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 v1.354	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 v1.353	ZFYVE26	Louise Daugherty Source Expert Review Green was added to ZFYVE26. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	XRCC1	Louise Daugherty Source Expert Review Amber was added to XRCC1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	XPA	Louise Daugherty Source Expert Review Green was added to XPA. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	XK	Louise Daugherty Source Expert Review Green was added to XK. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	VRK1	Louise Daugherty Source Expert Review Green was added to VRK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	VPS13A	Louise Daugherty Source Expert Review Green was added to VPS13A. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	VCP	Louise Daugherty Source Expert Review Amber was added to VCP. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	TWNK	Louise Daugherty Source Expert Review Amber was added to TWNK. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	TTPA	Louise Daugherty Source Expert Review Green was added to TTPA. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	TRPA1	Louise Daugherty Source Expert Review Green was added to TRPA1. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	TRIM2	Louise Daugherty Source Expert Review Green was added to TRIM2. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	SYT2	Louise Daugherty Source Expert Review Green was added to SYT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	SURF1	Louise Daugherty Source Expert Review Green was added to SURF1. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	SUCLA2	Louise Daugherty Source Expert Review Amber was added to SUCLA2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	SPG7	Louise Daugherty Source Expert Review Amber was added to SPG7. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	SOX10	Louise Daugherty Source Expert Review Green was added to SOX10. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	SLC5A7	Louise Daugherty Source Expert Review Green was added to SLC5A7. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	SLC25A46	Louise Daugherty Source Expert Review Green was added to SLC25A46. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	SLC25A19	Louise Daugherty Source Expert Review Green was added to SLC25A19. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	SCYL1	Louise Daugherty Source Expert Review Amber was added to SCYL1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	SCN10A	Louise Daugherty Source Expert Review Green was added to SCN10A. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	SCARB2	Louise Daugherty Source Expert Review Amber was added to SCARB2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	SBF1	Louise Daugherty Source Expert Review Green was added to SBF1. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	PTRH2	Louise Daugherty Source Expert Review Amber was added to PTRH2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	PTPN11	Louise Daugherty Source Expert Review Green was added to PTPN11. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	PTEN	Louise Daugherty Source Expert Review Amber was added to PTEN. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	PRKCG	Louise Daugherty Source Expert Review Amber was added to PRKCG. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	PPOX	Louise Daugherty Source Expert Review Green was added to PPOX. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	POLR3A	Louise Daugherty Source Expert Review Green was added to POLR3A. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	PNPLA6	Louise Daugherty Source Expert Review Amber was added to PNPLA6. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	PNKP	Louise Daugherty Source Expert Review Amber was added to PNKP. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	PMP2	Louise Daugherty Source Expert Review Green was added to PMP2. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	PMM2	Louise Daugherty Source Expert Review Green was added to PMM2. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	PLP1	Louise Daugherty Source Expert Review Amber was added to PLP1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	PEX10	Louise Daugherty Source Expert Review Green was added to PEX10. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	PDYN	Louise Daugherty Source Expert Review Amber was added to PDYN. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	OPA3	Louise Daugherty Source Expert Review Green was added to OPA3. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	OPA1	Louise Daugherty Source Expert Review Green was added to OPA1. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	NEFH	Louise Daugherty Source Expert Review Green was added to NEFH. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	NAGA	Louise Daugherty Source Expert Review Green was added to NAGA. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	MYH14	Louise Daugherty Source Expert Review Amber was added to MYH14. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	MTTP	Louise Daugherty Source Expert Review Green was added to MTTP. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	MT-TL1	Louise Daugherty Source Expert Review Green was added to MT-TL1. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	MT-RNR1	Louise Daugherty Source Expert Review Green was added to MT-RNR1. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	MMACHC	Louise Daugherty Source Expert Review Green was added to MMACHC. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	MCM3AP	Louise Daugherty Source Expert Review Green was added to MCM3AP. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	LYST	Louise Daugherty Source Expert Review Green was added to LYST. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	KCNA2	Louise Daugherty Source Expert Review Green was added to KCNA2. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	IARS2	Louise Daugherty Source Expert Review Green was added to IARS2. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	HMBS	Louise Daugherty Source Expert Review Green was added to HMBS. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	HADHB	Louise Daugherty Source Expert Review Green was added to HADHB. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	HADHA	Louise Daugherty Source Expert Review Green was added to HADHA. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	GNB4	Louise Daugherty Source Expert Review Green was added to GNB4. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	GJC2	Louise Daugherty Source Expert Review Green was added to GJC2. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	GBA2	Louise Daugherty Source Expert Review Green was added to GBA2. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	GALC	Louise Daugherty Source Expert Review Green was added to GALC. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	FXN	Louise Daugherty Source Expert Review Green was added to FXN. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	FLVCR1	Louise Daugherty Source Expert Review Green was added to FLVCR1. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	FBXO38	Louise Daugherty Source Expert Review Amber was added to FBXO38. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	FAM126A	Louise Daugherty Source Expert Review Green was added to FAM126A. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	FAH	Louise Daugherty Source Expert Review Green was added to FAH. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	ETFDH	Louise Daugherty Source Expert Review Amber was added to ETFDH. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	ERCC8	Louise Daugherty Source Expert Review Green was added to ERCC8. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	ERCC6	Louise Daugherty Source Expert Review Green was added to ERCC6. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	DST	Louise Daugherty Source Expert Review Green was added to DST. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	DRP2	Louise Daugherty Source Expert Review Amber was added to DRP2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	DNAJC3	Louise Daugherty Source Expert Review Amber was added to DNAJC3. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	DEGS1	Louise Daugherty Source Expert Review Green was added to DEGS1. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	DCTN1	Louise Daugherty Source Expert Review Green was added to DCTN1. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	DARS2	Louise Daugherty Source Expert Review Green was added to DARS2. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	CYP27A1	Louise Daugherty Source Expert Review Green was added to CYP27A1. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	CTDP1	Louise Daugherty Source Expert Review Green was added to CTDP1. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	CPOX	Louise Daugherty Source Expert Review Green was added to CPOX. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	COA7	Louise Daugherty Source Expert Review Green was added to COA7. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	CNTNAP1	Louise Daugherty Source Expert Review Green was added to CNTNAP1. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	CD59	Louise Daugherty Source Expert Review Green was added to CD59. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	BCKDHB	Louise Daugherty Source Expert Review Green was added to BCKDHB. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	BAG3	Louise Daugherty Source Expert Review Green was added to BAG3. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	B4GALNT1	Louise Daugherty Source Expert Review Green was added to B4GALNT1. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	ATP1A1	Louise Daugherty Source Expert Review Green was added to ATP1A1. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	ATL3	Louise Daugherty Source Expert Review Amber was added to ATL3. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	ARSA	Louise Daugherty Source Expert Review Green was added to ARSA. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	ARHGEF10	Louise Daugherty Source Expert Review Amber was added to ARHGEF10. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	APTX	Louise Daugherty Source Expert Review Green was added to APTX. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	APOA1	Louise Daugherty Source Expert Review Amber was added to APOA1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	AP1S1	Louise Daugherty Source Expert Review Amber was added to AP1S1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	AGXT	Louise Daugherty Source Expert Review Amber was added to AGXT. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
07 Dec 2019	Hereditary neuropathy v1.353	AGTPBP1	Louise Daugherty Source Expert Review Green was added to AGTPBP1. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.353	ABHD12	Louise Daugherty Source Expert Review Green was added to ABHD12. Rating Changed from Red List (low evidence) to Green List (high evidence)
07 Dec 2019	Hereditary neuropathy v1.352	ZFYVE26	Louise Daugherty edited their review of gene: ZFYVE26: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	XRCC1	Louise Daugherty commented on gene: XRCC1: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	XPA	Louise Daugherty edited their review of gene: XPA: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	XK	Louise Daugherty edited their review of gene: XK: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	WARS	Louise Daugherty edited their review of gene: WARS: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	VRK1	Louise Daugherty edited their review of gene: VRK1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	VPS13A	Louise Daugherty edited their review of gene: VPS13A: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	VCP	Louise Daugherty commented on gene: VCP: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	TYMP	Louise Daugherty edited their review of gene: TYMP: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	TWNK	Louise Daugherty commented on gene: TWNK: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	TUBB3	Louise Daugherty edited their review of gene: TUBB3: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	TTPA	Louise Daugherty edited their review of gene: TTPA: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	TRPA1	Louise Daugherty edited their review of gene: TRPA1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	TRIM2	Louise Daugherty edited their review of gene: TRIM2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	SYT2	Louise Daugherty edited their review of gene: SYT2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	SURF1	Louise Daugherty edited their review of gene: SURF1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	SUCLA2	Louise Daugherty commented on gene: SUCLA2: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	SPG7	Louise Daugherty commented on gene: SPG7: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	SPAST	Louise Daugherty edited their review of gene: SPAST: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	SOX10	Louise Daugherty edited their review of gene: SOX10: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	SLC5A7	Louise Daugherty edited their review of gene: SLC5A7: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	SLC25A46	Louise Daugherty edited their review of gene: SLC25A46: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	SLC25A19	Louise Daugherty edited their review of gene: SLC25A19: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	SLC12A6	Louise Daugherty edited their review of gene: SLC12A6: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	SETX	Louise Daugherty edited their review of gene: SETX: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	SCYL1	Louise Daugherty commented on gene: SCYL1: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	SCN10A	Louise Daugherty edited their review of gene: SCN10A: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	SCARB2	Louise Daugherty commented on gene: SCARB2: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	SBF1	Louise Daugherty edited their review of gene: SBF1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	SACS	Louise Daugherty edited their review of gene: SACS: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	PTRH2	Louise Daugherty commented on gene: PTRH2: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	PTPN11	Louise Daugherty edited their review of gene: PTPN11: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	PTEN	Louise Daugherty commented on gene: PTEN: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	PRNP	Louise Daugherty edited their review of gene: PRNP: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	PRKCG	Louise Daugherty commented on gene: PRKCG: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	PPOX	Louise Daugherty edited their review of gene: PPOX: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	POLR3A	Louise Daugherty edited their review of gene: POLR3A: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	POLG	Louise Daugherty edited their review of gene: POLG: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	PNPLA6	Louise Daugherty commented on gene: PNPLA6: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	PNKP	Louise Daugherty commented on gene: PNKP: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	PMP2	Louise Daugherty edited their review of gene: PMP2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	PMM2	Louise Daugherty edited their review of gene: PMM2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	PLP1	Louise Daugherty commented on gene: PLP1: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	PHYH	Louise Daugherty edited their review of gene: PHYH: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	PEX7	Louise Daugherty edited their review of gene: PEX7: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	PEX10	Louise Daugherty edited their review of gene: PEX10: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	PDYN	Louise Daugherty commented on gene: PDYN: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	PDHA1	Louise Daugherty edited their review of gene: PDHA1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	OPA3	Louise Daugherty edited their review of gene: OPA3: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	OPA1	Louise Daugherty edited their review of gene: OPA1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	NEFH	Louise Daugherty edited their review of gene: NEFH: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	NAGA	Louise Daugherty edited their review of gene: NAGA: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	MYH14	Louise Daugherty commented on gene: MYH14: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	MTTP	Louise Daugherty edited their review of gene: MTTP: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	MT-TL1	Louise Daugherty edited their review of gene: MT-TL1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	MT-RNR1	Louise Daugherty edited their review of gene: MT-RNR1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	MMACHC	Louise Daugherty edited their review of gene: MMACHC: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	MCM3AP	Louise Daugherty edited their review of gene: MCM3AP: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	LYST	Louise Daugherty edited their review of gene: LYST: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	KCNA2	Louise Daugherty edited their review of gene: KCNA2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	IARS2	Louise Daugherty edited their review of gene: IARS2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	HMBS	Louise Daugherty edited their review of gene: HMBS: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	HADHB	Louise Daugherty edited their review of gene: HADHB: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	HADHA	Louise Daugherty edited their review of gene: HADHA: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	GNB4	Louise Daugherty edited their review of gene: GNB4: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	GLA	Louise Daugherty edited their review of gene: GLA: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	GJC2	Louise Daugherty edited their review of gene: GJC2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	GBA2	Louise Daugherty edited their review of gene: GBA2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	GAN	Louise Daugherty edited their review of gene: GAN: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	GALC	Louise Daugherty edited their review of gene: GALC: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	FXN	Louise Daugherty edited their review of gene: FXN: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	FLVCR1	Louise Daugherty edited their review of gene: FLVCR1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	FBXO38	Louise Daugherty commented on gene: FBXO38: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	FAM126A	Louise Daugherty edited their review of gene: FAM126A: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	FAH	Louise Daugherty edited their review of gene: FAH: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	ETFDH	Louise Daugherty commented on gene: ETFDH: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	ERCC8	Louise Daugherty edited their review of gene: ERCC8: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	ERCC6	Louise Daugherty edited their review of gene: ERCC6: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	ELP1	Louise Daugherty edited their review of gene: ELP1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	DST	Louise Daugherty edited their review of gene: DST: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	DRP2	Louise Daugherty commented on gene: DRP2: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	DNAJC3	Louise Daugherty commented on gene: DNAJC3: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	DNAJB2	Louise Daugherty edited their review of gene: DNAJB2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	DEGS1	Louise Daugherty edited their review of gene: DEGS1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	DCTN1	Louise Daugherty edited their review of gene: DCTN1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	DARS2	Louise Daugherty edited their review of gene: DARS2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	CYP27A1	Louise Daugherty edited their review of gene: CYP27A1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	CTDP1	Louise Daugherty edited their review of gene: CTDP1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	CPOX	Louise Daugherty edited their review of gene: CPOX: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	COA7	Louise Daugherty edited their review of gene: COA7: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	CNTNAP1	Louise Daugherty edited their review of gene: CNTNAP1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	CD59	Louise Daugherty edited their review of gene: CD59: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	C12orf65	Louise Daugherty edited their review of gene: C12orf65: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	BCKDHB	Louise Daugherty edited their review of gene: BCKDHB: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	BAG3	Louise Daugherty edited their review of gene: BAG3: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	B4GALNT1	Louise Daugherty edited their review of gene: B4GALNT1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	ATP1A1	Louise Daugherty edited their review of gene: ATP1A1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	ATM	Louise Daugherty edited their review of gene: ATM: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	ATL3	Louise Daugherty commented on gene: ATL3: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	ARSA	Louise Daugherty edited their review of gene: ARSA: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	ARHGEF10	Louise Daugherty commented on gene: ARHGEF10: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
07 Dec 2019	Hereditary neuropathy v1.352	APTX	Louise Daugherty edited their review of gene: APTX: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	APOA1	Louise Daugherty edited their review of gene: APOA1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: AMBER
07 Dec 2019	Hereditary neuropathy v1.352	AP1S1	Louise Daugherty edited their review of gene: AP1S1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: AMBER
07 Dec 2019	Hereditary neuropathy v1.352	AGXT	Louise Daugherty edited their review of gene: AGXT: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: AMBER
07 Dec 2019	Hereditary neuropathy v1.352	AGTPBP1	Louise Daugherty edited their review of gene: AGTPBP1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	ABHD12	Louise Daugherty edited their review of gene: ABHD12: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
07 Dec 2019	Hereditary neuropathy v1.352	ABCA1	Louise Daugherty edited their review of gene: ABCA1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
06 Dec 2019	Hereditary neuropathy v1.351	DNAJB2	Louise Daugherty commented on gene: DNAJB2: 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 as Amber due to single reported variant in 2016, Natalie says no publications since 2016 but Alex says now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases
06 Dec 2019	Hereditary neuropathy v1.351	DNAJB2	Louise Daugherty Classified gene: DNAJB2 as Green List (high evidence)
06 Dec 2019	Hereditary neuropathy v1.351	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 v1.351	DNAJB2	Louise Daugherty Gene: dnajb2 has been classified as Green List (High Evidence).
05 Dec 2019	Hereditary neuropathy v1.350	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. The gene has changed ratings as this panel was going to be used for R78, which was going to be broad panel, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ The Test Group agreed that this Green gene was recommended for WGS panel based on broad phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. ; to: 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. The gene has changed ratings as this panel was going to be used for R78, which was going to be broad panel, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ The Test Group agreed that this Green gene was recommended for WGS panel based on broad phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP.
05 Dec 2019	Hereditary neuropathy v1.350	ABCA1	Louise Daugherty Classified gene: ABCA1 as Green List (high evidence)
05 Dec 2019	Hereditary neuropathy v1.350	ABCA1	Louise Daugherty Gene: abca1 has been classified as Green List (High Evidence).
05 Dec 2019	Hereditary neuropathy v1.349	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: 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. The gene has changed ratings as this panel was going to be used for R78, which was going to be broad panel, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ The Test Group agreed that this Green gene was recommended for WGS panel based on broad phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP.
05 Dec 2019	Hereditary neuropathy v1.349	ABCA1	Louise Daugherty Deleted their comment
05 Dec 2019	Hereditary neuropathy v1.348		Ellen McDonagh List of related panels changed from Charcot-Marie-Tooth disease; R78 to Charcot-Marie-Tooth disease Panel types changed to Rare Disease 100K
05 Dec 2019	Hereditary neuropathy v1.347	ABCA1	Louise Daugherty Classified gene: ABCA1 as Red List (low evidence)
05 Dec 2019	Hereditary neuropathy v1.347	ABCA1	Louise Daugherty Added comment: Comment on list classification: Returned back to Red review, based on the decsiosn to create a separate panel for GMS
05 Dec 2019	Hereditary neuropathy v1.347	ABCA1	Louise Daugherty Gene: abca1 has been classified as Red List (Low Evidence).
05 Dec 2019	Hereditary neuropathy v1.346	ABCA1	Louise Daugherty edited their review of gene: ABCA1: Changed rating: AMBER
05 Dec 2019	Hereditary neuropathy v1.346	AGXT	Louise Daugherty Classified gene: AGXT as Red List (low evidence)
05 Dec 2019	Hereditary neuropathy v1.346	AGXT	Louise Daugherty Gene: agxt has been classified as Red List (Low Evidence).
05 Dec 2019	Hereditary neuropathy v1.345	AGXT	Louise Daugherty Deleted their comment
05 Dec 2019	Hereditary neuropathy v1.345	AP1S1	Louise Daugherty Deleted their comment
05 Dec 2019	Hereditary neuropathy v1.345	AP1S1	Louise Daugherty Classified gene: AP1S1 as Red List (low evidence)
05 Dec 2019	Hereditary neuropathy v1.345	AP1S1	Louise Daugherty Gene: ap1s1 has been classified as Red List (Low Evidence).
05 Dec 2019	Hereditary neuropathy v1.344	AP1S1	Louise Daugherty edited their review of gene: AP1S1: Changed rating: RED
05 Dec 2019	Hereditary neuropathy v1.344	APOA1	Louise Daugherty Classified gene: APOA1 as Red List (low evidence)
05 Dec 2019	Hereditary neuropathy v1.344	APOA1	Louise Daugherty Gene: apoa1 has been classified as Red List (Low Evidence).
05 Dec 2019	Hereditary neuropathy v1.343	APOA1	Louise Daugherty edited their review of gene: APOA1: Changed rating: RED
05 Dec 2019	Hereditary neuropathy v1.343	APOA1	Louise Daugherty Deleted their comment
05 Dec 2019	Hereditary neuropathy v1.343	AGXT	Louise Daugherty Classified gene: AGXT as Green List (high evidence)
05 Dec 2019	Hereditary neuropathy v1.343	AGXT	Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green. After discussion within curation team a decision was made to create a new panel specifically for genes that are for isolated neuropathy, and this panel will cover the broader phenotype
05 Dec 2019	Hereditary neuropathy v1.343	AGXT	Louise Daugherty Gene: agxt has been classified as Green List (High Evidence).
05 Dec 2019	Hereditary neuropathy v1.342	AP1S1	Louise Daugherty Classified gene: AP1S1 as Green List (high evidence)
05 Dec 2019	Hereditary neuropathy v1.342	AP1S1	Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green. After discussion within curation team a decision was made to create a new panel specifically for genes that are for isolated neuropathy, and this panel will cover the broader phenotype
05 Dec 2019	Hereditary neuropathy v1.342	AP1S1	Louise Daugherty Gene: ap1s1 has been classified as Green List (High Evidence).
05 Dec 2019	Hereditary neuropathy v1.341	AP1S1	Louise Daugherty edited their review of gene: AP1S1: Changed rating: GREEN
05 Dec 2019	Hereditary neuropathy v1.341	APOA1	Louise Daugherty Classified gene: APOA1 as Green List (high evidence)
05 Dec 2019	Hereditary neuropathy v1.341	APOA1	Louise Daugherty Gene: apoa1 has been classified as Green List (High Evidence).
05 Dec 2019	Hereditary neuropathy v1.340	APOA1	Louise Daugherty commented on gene: APOA1: Changed rating from Red to Green. After discussion within curation team a decision was made to create a new panel specifically for genes that are for isolated neuropathy, and this panel will cover the broader phenotype
05 Dec 2019	Hereditary neuropathy v1.340	APOA1	Louise Daugherty edited their review of gene: APOA1: Changed rating: GREEN
05 Dec 2019	Hereditary neuropathy v1.340	APTX	Louise Daugherty Classified gene: APTX as Red List (low evidence)
05 Dec 2019	Hereditary neuropathy v1.340	APTX	Louise Daugherty Added comment: Comment on list classification: rating changed due to GMS recommendation
05 Dec 2019	Hereditary neuropathy v1.340	APTX	Louise Daugherty Gene: aptx has been classified as Red List (Low Evidence).
05 Dec 2019	Hereditary neuropathy v1.339	APTX	Louise Daugherty changed review comment from: Changed from Green to Red: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy. Extension of panel scope - ataxia with neuropathy. Broader phenotype: Ataxia with oculomotor apraxia; to: Changed from Green to Red: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy. Extension of panel scope - ataxia with neuropathy. Broader phenotype: Ataxia with oculomotor apraxia. 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.
05 Dec 2019	Hereditary neuropathy v1.339	APTX	Louise Daugherty edited their review of gene: APTX: Added comment: Changed from Green to Red: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy. Extension of panel scope - ataxia with neuropathy. Broader phenotype: Ataxia with oculomotor apraxia; Changed rating: RED
05 Dec 2019	Hereditary neuropathy v1.339	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: https://www.omim.org/entry/107680#0010 - 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 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.
05 Dec 2019	Hereditary neuropathy v1.339	APOA1	Louise Daugherty edited their review of gene: APOA1: Added comment: 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: https://www.omim.org/entry/107680#0010 - 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.; Changed rating: RED
05 Dec 2019	Hereditary neuropathy v1.339	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; to: 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.
05 Dec 2019	Hereditary neuropathy v1.339	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; to: 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.
05 Dec 2019	Hereditary neuropathy v1.339	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; to: 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.
05 Dec 2019	Hereditary neuropathy v1.339	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; to: 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.
05 Dec 2019	Hereditary neuropathy v1.339	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; to: 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.
05 Dec 2019	Hereditary neuropathy v1.339	AP1S1	Louise Daugherty edited their review of gene: AP1S1: Added comment: 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; Changed rating: RED
05 Dec 2019	Hereditary neuropathy v1.339	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; to: 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
05 Dec 2019	Hereditary neuropathy v1.339	AGXT	Louise Daugherty edited their review of gene: AGXT: Added comment: 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; Changed rating: RED
05 Dec 2019	Hereditary neuropathy v1.339	AGTPBP1	Louise Daugherty edited their review of gene: AGTPBP1: Added comment: 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; Changed rating: RED
05 Dec 2019	Hereditary neuropathy v1.339	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; to: 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
05 Dec 2019	Hereditary neuropathy v1.339	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.; to: 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
05 Dec 2019	Hereditary neuropathy v1.339	ABCA1	Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green : From 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.; to: 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.
04 Dec 2019	Hereditary neuropathy v1.339	ABCA1	Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green. From 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.; to: Comment on list classification: Changed from Red to Green : From 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.
04 Dec 2019	Hereditary neuropathy v1.339	ABHD12	Louise Daugherty changed review comment from: Remains 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; to: 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
04 Dec 2019	Hereditary neuropathy v1.339	ABHD12	Louise Daugherty edited their review of gene: ABHD12: Added comment: Remains 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; Changed rating: RED
04 Dec 2019	Hereditary neuropathy v1.339	ABCA1	Louise Daugherty edited their review of gene: ABCA1: Changed rating: GREEN
04 Dec 2019	Hereditary neuropathy v1.339	ABCA1	Louise Daugherty Classified gene: ABCA1 as Green List (high evidence)
04 Dec 2019	Hereditary neuropathy v1.339	ABCA1	Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. From 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.
04 Dec 2019	Hereditary neuropathy v1.339	ABCA1	Louise Daugherty Gene: abca1 has been classified as Green List (High Evidence).
25 Nov 2019	Hereditary neuropathy v1.338		Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease
12 Nov 2019	Hereditary neuropathy v1.337	WARS	Louise Daugherty Classified gene: WARS as Green List (high evidence)
12 Nov 2019	Hereditary neuropathy v1.337	WARS	Louise Daugherty Added comment: Comment on list classification: new gene added from the GLH, this gene was rated as Green due to cases in the 100,000 Genomes Project in addition to the published cases
12 Nov 2019	Hereditary neuropathy v1.337	WARS	Louise Daugherty Gene: wars has been classified as Green List (High Evidence).
12 Nov 2019	Hereditary neuropathy v1.336	WARS	Louise Daugherty Publications for gene: WARS were set to
05 Nov 2019	Hereditary neuropathy v1.335		Louise Daugherty List of related panels changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease; R78
16 Oct 2019	Hereditary neuropathy v1.334		Antonio Rueda removed STR:NOP56_GGCCTGTT from the panel
23 Sep 2019	Hereditary neuropathy v1.333	XK	Rachel Jones reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11761473, 11761473; Phenotypes: McLeod syndrome with or without chronic granulomatous disease OMIM 300842; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
06 Sep 2019	Hereditary neuropathy v1.333	WARS	Louise Daugherty Tag new-gene-name tag was added to gene: WARS.
06 Sep 2019	Hereditary neuropathy v1.333	WARS	Louise Daugherty commented on gene: WARS: Added new-gene-name tag, new approved HGNC gene symbol for WARS is WARS1
06 Sep 2019	Hereditary neuropathy v1.333	HARS	Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
06 Sep 2019	Hereditary neuropathy v1.333	HARS	Louise Daugherty commented on gene: HARS: Added new-gene-name tag, new approved HGNC gene symbol for HARS is HARS1
06 Sep 2019	Hereditary neuropathy v1.333	MARS	Louise Daugherty Tag new-gene-name tag was added to gene: MARS.
06 Sep 2019	Hereditary neuropathy v1.333	MARS	Louise Daugherty commented on gene: MARS: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1
06 Sep 2019	Hereditary neuropathy v1.333	GARS	Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
06 Sep 2019	Hereditary neuropathy v1.333	GARS	Louise Daugherty commented on gene: GARS: Added new-gene-name tag, new approved HGNC gene symbol for GARS is GARS1
06 Sep 2019	Hereditary neuropathy v1.333	KARS	Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
06 Sep 2019	Hereditary neuropathy v1.333	KARS	Louise Daugherty commented on gene: KARS: Added new-gene-name tag, new approved HGNC gene symbol for KARS is KARS1
06 Sep 2019	Hereditary neuropathy v1.333	AARS	Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
06 Sep 2019	Hereditary neuropathy v1.333	AARS	Louise Daugherty commented on gene: AARS: Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1
09 Jul 2019	Hereditary neuropathy v1.333	TTR	Louise Daugherty Phenotypes for gene: TTR were changed from Cardiomyopathy to Amyloidosis, hereditary, transthyretin-related, 105210; FAP; Cardiomyopathy
09 Jul 2019	Hereditary neuropathy v1.332	TTR	Louise Daugherty Publications for gene: TTR were set to
09 Jul 2019	Hereditary neuropathy v1.331	TTR	Ellen McDonagh edited their review of gene: TTR: Added comment: The 'treatable' tag has been added due to new therapies available that target this gene. Inotersen is an antisense oligonucleotide inhibitor of mutant and wild-type human transthyretin (TTR), developed and approved by NICE for the treatment of hereditary transthyretin amyloidosis (hATTR) (PMID: 30120737, https://www.nice.org.uk/guidance/hst9/chapter/1-Recommendations). Patisiran is a small interfering RNA (siRNA) molecule that targets the transthyretin gene (TTR) messenger mRNA (mRNA), to suppress both mutant and wild-type amyloid transthyretin (ATTR) protein production. This drug has been approved by NHSE for treatment of transthyretin-mediated amyloidosis (https://www.bbc.co.uk/news/health-48907976).; Changed publications: 30878017, 31131842, 31118583, 31111153, 30120737; Changed phenotypes: Amyloidosis, hereditary, transthyretin-related 105210
09 Jul 2019	Hereditary neuropathy v1.331	TTR	Ellen McDonagh Tag treatable tag was added to gene: TTR.
21 Jun 2019	Hereditary neuropathy v1.331	AP1S1	Alexander Rossor edited their review of gene: AP1S1: Added comment: Same homozygous mutation described in 4 families form same geographical region; Changed rating: AMBER
21 Jun 2019	Hereditary neuropathy v1.331	XRCC1	Alexander Rossor edited their review of gene: XRCC1: Added comment: Only two families; Changed rating: AMBER; Changed publications: 29472272, 28002403
21 Jun 2019	Hereditary neuropathy v1.331	SCYL1	Alexander Rossor edited their review of gene: SCYL1: Added comment: Neuropthay only in 2 unrelated patients; Changed rating: AMBER; Changed publications: 26581903, 30258122
21 Jun 2019	Hereditary neuropathy v1.331	DNAJB2	Alexander Rossor edited their review of gene: DNAJB2: Added comment: Multiple families now reported with recessive CMT/ HMN. PMIDs added above; Changed publications: 26752306, 25274842, 22522442
21 Jun 2019	Hereditary neuropathy v1.331		Louise Daugherty removed STR:NOP56_GGCCTGTT from the panel
20 Jun 2019	Hereditary neuropathy v1.330		Louise Daugherty removed STR:NOP56_GGCCTGTT from the panel
20 Jun 2019	Hereditary neuropathy v1.329	NOP56_GGCCTGTT	Louise Daugherty Classified STR: NOP56_GGCCTGTT as No list
20 Jun 2019	Hereditary neuropathy v1.329	NOP56_GGCCTGTT	Louise Daugherty Added comment: Comment on list classification: this is a test -
20 Jun 2019	Hereditary neuropathy v1.329	NOP56_GGCCTGTT	Louise Daugherty Str: nop56_ggcctgtt has been removed from the panel.
20 Jun 2019	Hereditary neuropathy v1.328		Louise Daugherty removed STR:NOP56_GGCCTGTT from the panel
20 Jun 2019	Hereditary neuropathy v1.327	NOP56_GGCCTGTT	Louise Daugherty Classified STR: NOP56_GGCCTGTT as Red List (low evidence)
20 Jun 2019	Hereditary neuropathy v1.327	NOP56_GGCCTGTT	Louise Daugherty Str: nop56_ggcctgtt has been classified as Red List (Low Evidence).
20 Jun 2019	Hereditary neuropathy v1.326		Louise Daugherty removed STR:NOP56_GGCCTGTT from the panel
20 Jun 2019	Hereditary neuropathy v1.325	NOP56_GGCCTGTT	Louise Daugherty Classified STR: NOP56_GGCCTGTT as No list
20 Jun 2019	Hereditary neuropathy v1.325	NOP56_GGCCTGTT	Louise Daugherty Str: nop56_ggcctgtt has been removed from the panel.
20 Jun 2019	Hereditary neuropathy v1.324		Louise Daugherty removed STR:NOP56_GGCCTGTT from the panel
20 Jun 2019	Hereditary neuropathy v1.322		Louise Daugherty removed STR:NOP56_GGCCTGTT from the panel
17 Jun 2019	Hereditary neuropathy v1.320	PTEN	Louise Daugherty Deleted their comment
17 Jun 2019	Hereditary neuropathy v1.320	PPOX	Louise Daugherty Deleted their comment
17 Jun 2019	Hereditary neuropathy v1.320	POLR3A	Louise Daugherty Deleted their comment
17 Jun 2019	Hereditary neuropathy v1.320	PNKP	Louise Daugherty Deleted their comment
17 Jun 2019	Hereditary neuropathy v1.320	PMM2	Louise Daugherty Deleted their comment
12 Jun 2019	Hereditary neuropathy v1.320	FXN_GAA	Louise Daugherty reviewed STR: FXN_GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
12 Jun 2019	Hereditary neuropathy v1.320	NOP56_GGCCTG	Louise Daugherty Source Expert list was removed from STR: NOP56_GGCCTG. Source Expert Review was added to STR: NOP56_GGCCTG.
12 Jun 2019	Hereditary neuropathy v1.319	FMR1_CGG	Louise Daugherty Source Expert list was removed from STR: FMR1_CGG. Source Expert Review was added to STR: FMR1_CGG.
12 Jun 2019	Hereditary neuropathy v1.318	ATXN7_CAG	Louise Daugherty Source Expert list was removed from STR: ATXN7_CAG. Source Expert Review was added to STR: ATXN7_CAG.
12 Jun 2019	Hereditary neuropathy v1.317	AR_CAG	Louise Daugherty Source Expert list was removed from STR: AR_CAG. Source Expert Review was added to STR: AR_CAG.
12 Jun 2019	Hereditary neuropathy v1.316	PPP2R2B_CAG	Louise Daugherty Source Expert list was removed from STR: PPP2R2B_CAG.
12 Jun 2019	Hereditary neuropathy v1.315	PPP2R2B_CAG	Louise Daugherty Source Expert Review was added to STR: PPP2R2B_CAG.
11 Jun 2019	Hereditary neuropathy v1.314	ATXN7_CAG	Louise Daugherty Classified STR: ATXN7_CAG as Amber List (moderate evidence)
11 Jun 2019	Hereditary neuropathy v1.314	ATXN7_CAG	Louise Daugherty Str: atxn7_cag has been classified as Amber List (Moderate Evidence).
11 Jun 2019	Hereditary neuropathy v1.313	ATXN7_CAG	Louise Daugherty STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Hereditary neuropathy. Sources: Expert list STR tags were added to STR: ATXN7_CAG. Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATXN7_CAG were set to 25614072 Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500; Adult onset, cerebellar ataxia, pigmentary macular degeneration, sensory-motor axonal neuropathy Review for STR: ATXN7_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 list
11 Jun 2019	Hereditary neuropathy v1.312	FMR1_CGG	Louise Daugherty Classified STR: FMR1_CGG as Amber List (moderate evidence)
11 Jun 2019	Hereditary neuropathy v1.312	FMR1_CGG	Louise Daugherty Str: fmr1_cgg has been classified as Amber List (Moderate Evidence).
11 Jun 2019	Hereditary neuropathy v1.311	FMR1_CGG	Louise Daugherty STR: FMR1_CGG was added STR: FMR1_CGG was added to Hereditary neuropathy. Sources: Expert list currently-ngs-unreportable, 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 300624; Late onset tremor, ataxia, parkinsonism, sensory axonal neuropathy, middle cerebellar peduncle changes on MRI Review for STR: FMR1_CGG 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 list
11 Jun 2019	Hereditary neuropathy v1.310	NOP56_GGCCTG	Louise Daugherty Classified STR: NOP56_GGCCTG as Amber List (moderate evidence)
11 Jun 2019	Hereditary neuropathy v1.310	NOP56_GGCCTG	Louise Daugherty Str: nop56_ggcctg has been classified as Amber List (Moderate Evidence).
11 Jun 2019	Hereditary neuropathy v1.309	NOP56_GGCCTG	BRIDGE consortium Deleted their review
11 Jun 2019	Hereditary neuropathy v1.309	NOP56_GGCCTG	BRIDGE consortium reviewed STR: NOP56_GGCCTG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
11 Jun 2019	Hereditary neuropathy v1.309	NOP56_GGCCTGTT	BRIDGE consortium STR: NOP56_GGCCTGTT was added STR: NOP56_GGCCTGTT was added to Hereditary neuropathy. Sources: Expert list Mode of inheritance for STR: NOP56_GGCCTGTT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: NOP56_GGCCTGTT was set to AMBER Added comment: test Sources: Expert list
11 Jun 2019	Hereditary neuropathy v1.309	NOP56_GGCCTG	Louise Daugherty STR: NOP56_GGCCTG was added STR: NOP56_GGCCTG was added to Hereditary neuropathy. Sources: Expert list 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, 614153Late adult onset gait ataxia, tongue atrophy and fasciculation, distal motor neuropathy Review for STR: NOP56_GGCCTG 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 list
11 Jun 2019	Hereditary neuropathy v1.308		Louise Daugherty removed STR:FXTS from the panel
11 Jun 2019	Hereditary neuropathy v1.307	FXTS	Louise Daugherty STR: FXTS was added STR: FXTS was added to Hereditary neuropathy. Sources: Expert Review Mode of inheritance for STR: FXTS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added comment: test Sources: Expert Review
11 Jun 2019	Hereditary neuropathy v1.306		Louise Daugherty removed STR:FXTS from the panel
11 Jun 2019	Hereditary neuropathy v1.305	PPP2R2B_CAG	Louise Daugherty edited their review of STR: PPP2R2B_CAG: Changed rating: GREEN
11 Jun 2019	Hereditary neuropathy v1.305	PPP2R2B_CAG	Louise Daugherty Classified STR: PPP2R2B_CAG as Amber List (moderate evidence)
11 Jun 2019	Hereditary neuropathy v1.305	PPP2R2B_CAG	Louise Daugherty Added comment: Comment on list classification: 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
11 Jun 2019	Hereditary neuropathy v1.305	PPP2R2B_CAG	Louise Daugherty Str: ppp2r2b_cag has been classified as Amber List (Moderate Evidence).
11 Jun 2019	Hereditary neuropathy v1.304	PPP2R2B_CAG	Louise Daugherty Classified STR: PPP2R2B_CAG as Amber List (moderate evidence)
11 Jun 2019	Hereditary neuropathy v1.304	PPP2R2B_CAG	Louise Daugherty Str: ppp2r2b_cag has been classified as Amber List (Moderate Evidence).
11 Jun 2019	Hereditary neuropathy v1.303	PPP2R2B_CAG	Louise Daugherty STR: PPP2R2B_CAG was added STR: PPP2R2B_CAG was added to Hereditary neuropathy. Sources: Expert list STR tags were added to STR: PPP2R2B_CAG. Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: PPP2R2B_CAG were set to 16138911 Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326; Adult onset cerebellar ataxia, tremor of head and arms, subclinical sensory-motor axonal neuropathy; neuropathy minor feature Review for STR: PPP2R2B_CAG was set to AMBER Added comment: Sources: Expert list
11 Jun 2019	Hereditary neuropathy v1.302	AR_CAG	Louise Daugherty GRCh37 position for AR_CAG was changed from - to 66765160-66765225. GRCh38 position for AR_CAG was changed from 67544622-67730618 to 67545316-67545383. Normal Number of Repeats for AR_CAG was changed from 36 to 34. Mode of inheritance for STR: AR_CAG 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)
11 Jun 2019	Hereditary neuropathy v1.301	AR_CAG	Louise Daugherty Classified STR: AR_CAG as Amber List (moderate evidence)
11 Jun 2019	Hereditary neuropathy v1.301	AR_CAG	Louise Daugherty Added comment: Comment on list classification: 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.
11 Jun 2019	Hereditary neuropathy v1.301	AR_CAG	Louise Daugherty Str: ar_cag has been classified as Amber List (Moderate Evidence).
11 Jun 2019	Hereditary neuropathy v1.300	ZFYVE26	Louise Daugherty commented on gene: ZFYVE26: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	XRCC1	Louise Daugherty commented on gene: XRCC1: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	XPA	Louise Daugherty commented on gene: XPA: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	XK	Louise Daugherty commented on gene: XK: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	WARS	Louise Daugherty commented on gene: WARS: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	VRK1	Louise Daugherty edited their review of gene: VRK1: Added comment: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
11 Jun 2019	Hereditary neuropathy v1.300	VPS13A	Louise Daugherty commented on gene: VPS13A: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	VCP	Louise Daugherty commented on gene: VCP: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	TWNK	Louise Daugherty commented on gene: TWNK: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	TTPA	Louise Daugherty commented on gene: TTPA: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	SURF1	Louise Daugherty commented on gene: SURF1: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	SUCLA2	Louise Daugherty commented on gene: SUCLA2: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	SPG7	Louise Daugherty commented on gene: SPG7: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	SPG11	Louise Daugherty commented on gene: SPG11: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	SPAST	Louise Daugherty commented on gene: SPAST: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	SOX10	Louise Daugherty commented on gene: SOX10: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	SLC5A7	Louise Daugherty commented on gene: SLC5A7: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	SLC25A46	Louise Daugherty commented on gene: SLC25A46: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	SLC25A19	Louise Daugherty commented on gene: SLC25A19: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	SELENOI	Louise Daugherty commented on gene: SELENOI: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	SCYL1	Louise Daugherty commented on gene: SCYL1: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	SCP2	Louise Daugherty commented on gene: SCP2: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	SCARB2	Louise Daugherty commented on gene: SCARB2: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	PTRH2	Louise Daugherty commented on gene: PTRH2: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	PTPN11	Louise Daugherty commented on gene: PTPN11: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	PTEN	Louise Daugherty commented on gene: PTEN: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	PRKCG	Louise Daugherty commented on gene: PRKCG: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	PPOX	Louise Daugherty commented on gene: PPOX: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	POLR3A	Louise Daugherty commented on gene: POLR3A: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	PNPLA6	Louise Daugherty commented on gene: PNPLA6: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	PNKP	Louise Daugherty commented on gene: PNKP: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	PMP2	Louise Daugherty commented on gene: PMP2: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	PMM2	Louise Daugherty commented on gene: PMM2: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	XRCC1	Louise Daugherty reviewed gene: XRCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	XPA	Louise Daugherty reviewed gene: XPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	XK	Louise Daugherty reviewed gene: XK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	VPS13A	Louise Daugherty reviewed gene: VPS13A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	SUCLA2	Louise Daugherty reviewed gene: SUCLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	SLC25A46	Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	SLC25A19	Louise Daugherty reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	SELENOI	Louise Daugherty reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	SCYL1	Louise Daugherty reviewed gene: SCYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	SCP2	Louise Daugherty reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	SCARB2	Louise Daugherty reviewed gene: SCARB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	PTRH2	Louise Daugherty reviewed gene: PTRH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	PTEN	Louise Daugherty reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	PRKCG	Louise Daugherty commented on gene: PRKCG: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
11 Jun 2019	Hereditary neuropathy v1.300	PPOX	Louise Daugherty reviewed gene: PPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	POLR3A	Louise Daugherty reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	PNKP	Louise Daugherty reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	PMM2	Louise Daugherty reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	PEX10	Louise Daugherty reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	PDYN	Louise Daugherty reviewed gene: PDYN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	OPA3	Louise Daugherty reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	OPA1	Louise Daugherty reviewed gene: OPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	NAGA	Louise Daugherty reviewed gene: NAGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	MT-TL1	Louise Daugherty reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	MT-RNR1	Louise Daugherty reviewed gene: MT-RNR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	MMACHC	Louise Daugherty reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	LYST	Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	KLC2	Louise Daugherty reviewed gene: KLC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	KCNA2	Louise Daugherty reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	IARS2	Louise Daugherty reviewed gene: IARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	HMBS	Louise Daugherty reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	GLE1	Louise Daugherty reviewed gene: GLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	GJC2	Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	GBA2	Louise Daugherty reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	GALC	Louise Daugherty reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	FLVCR1	Louise Daugherty reviewed gene: FLVCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	FAM126A	Louise Daugherty reviewed gene: FAM126A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	FAH	Louise Daugherty reviewed gene: FAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	FA2H	Louise Daugherty reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	ETFDH	Louise Daugherty reviewed gene: ETFDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	ERCC8	Louise Daugherty reviewed gene: ERCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	ERCC6	Louise Daugherty reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	ERBB3	Louise Daugherty reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	DSTYK	Louise Daugherty reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	DNAJC3	Louise Daugherty reviewed gene: DNAJC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	DGUOK	Louise Daugherty reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	DEGS1	Louise Daugherty reviewed gene: DEGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	DARS2	Louise Daugherty reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	CYP27A1	Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	CPOX	Louise Daugherty reviewed gene: CPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	COA7	Louise Daugherty reviewed gene: COA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	CD59	Louise Daugherty reviewed gene: CD59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	C19orf12	Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	BCKDHB	Louise Daugherty reviewed gene: BCKDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	B4GALNT1	Louise Daugherty reviewed gene: B4GALNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	ARSA	Louise Daugherty reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	ARL6IP1	Louise Daugherty reviewed gene: ARL6IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	APOA1	Louise Daugherty reviewed gene: APOA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	AP1S1	Louise Daugherty reviewed gene: AP1S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	AGXT	Louise Daugherty reviewed gene: AGXT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	AGTPBP1	Louise Daugherty reviewed gene: AGTPBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	ABHD12	Louise Daugherty reviewed gene: ABHD12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jun 2019	Hereditary neuropathy v1.300	ABCA1	Louise Daugherty reviewed gene: ABCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Jun 2019	Hereditary neuropathy v1.299	ABCA1	Louise Daugherty Phenotypes for gene: ABCA1 were changed from to Tangier disease, 205400; Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly; pain, paresthesias, anaesthesia
06 Jun 2019	Hereditary neuropathy v1.298	ABCA1	Louise Daugherty Publications for gene: ABCA1 were set to
06 Jun 2019	Hereditary neuropathy v1.297	ABCA1	Louise Daugherty Mode of inheritance for gene: ABCA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.296	ABHD12	Louise Daugherty Mode of inheritance for gene: ABHD12 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.295	ABHD12	Louise Daugherty Publications for gene: ABHD12 were set to
06 Jun 2019	Hereditary neuropathy v1.294	ABHD12	Louise Daugherty Phenotypes for gene: ABHD12 were changed from to Neurodegeneration, childhood-onset, with cerebellar atrophy,612674; Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
06 Jun 2019	Hereditary neuropathy v1.293	AGTPBP1	Louise Daugherty Phenotypes for gene: AGTPBP1 were changed from to Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276; Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy
06 Jun 2019	Hereditary neuropathy v1.292	AGTPBP1	Louise Daugherty Publications for gene: AGTPBP1 were set to
06 Jun 2019	Hereditary neuropathy v1.291	AGTPBP1	Louise Daugherty Mode of inheritance for gene: AGTPBP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.290	AGXT	Louise Daugherty Publications for gene: AGXT were set to
06 Jun 2019	Hereditary neuropathy v1.289	AGXT	Louise Daugherty Phenotypes for gene: AGXT were changed from 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)
06 Jun 2019	Hereditary neuropathy v1.288	AGXT	Louise Daugherty Mode of inheritance for gene: AGXT was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.287	AP1S1	Louise Daugherty Publications for gene: AP1S1 were set to
06 Jun 2019	Hereditary neuropathy v1.286	AP1S1	Louise Daugherty Phenotypes for gene: AP1S1 were changed from to MEDNIK syndrome, 609313; Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
06 Jun 2019	Hereditary neuropathy v1.285	AP1S1	Louise Daugherty Mode of inheritance for gene: AP1S1 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.284	APOA1	Louise Daugherty Phenotypes for gene: APOA1 were changed from to Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy
06 Jun 2019	Hereditary neuropathy v1.283	APOA1	Louise Daugherty Publications for gene: APOA1 were set to
06 Jun 2019	Hereditary neuropathy v1.282	APOA1	Louise Daugherty Mode of inheritance for gene: APOA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.281	ARL6IP1	Louise Daugherty Publications for gene: ARL6IP1 were set to
06 Jun 2019	Hereditary neuropathy v1.280	ARL6IP1	Louise Daugherty Phenotypes for gene: ARL6IP1 were changed from to Spastic paraplegia 61, autosomal recessive, 615685; Childhood onset spastic paraplegia with mutilating, sensory to motor axonal neuropathy
06 Jun 2019	Hereditary neuropathy v1.279	ARL6IP1	Louise Daugherty Mode of inheritance for gene: ARL6IP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.278	ARSA	Louise Daugherty Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, 250100; Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
06 Jun 2019	Hereditary neuropathy v1.277	ARSA	Louise Daugherty Mode of inheritance for gene: ARSA was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.276	B4GALNT1	Louise Daugherty Publications for gene: B4GALNT1 were set to
06 Jun 2019	Hereditary neuropathy v1.275	B4GALNT1	Louise Daugherty Mode of inheritance for gene: B4GALNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.274	B4GALNT1	Louise Daugherty Phenotypes for gene: B4GALNT1 were changed from to Spastic paraplegia 26, autosomal recessive, 609195; SPG26; Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy
06 Jun 2019	Hereditary neuropathy v1.273	BCKDHB	Louise Daugherty Phenotypes for gene: BCKDHB were changed from to Maple syrup urine disease, type Ib, 248600; Maple Syrup Urine Disease; Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath
06 Jun 2019	Hereditary neuropathy v1.272	BCKDHB	Louise Daugherty Publications for gene: BCKDHB were set to
06 Jun 2019	Hereditary neuropathy v1.271	BCKDHB	Louise Daugherty Mode of inheritance for gene: BCKDHB was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.270	C19orf12	Louise Daugherty Publications for gene: C19orf12 were set to
06 Jun 2019	Hereditary neuropathy v1.269	C19orf12	Louise Daugherty Phenotypes for gene: C19orf12 were changed from to Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298; SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs
06 Jun 2019	Hereditary neuropathy v1.268	C19orf12	Louise Daugherty Mode of inheritance for gene: C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.268	C19orf12	Louise Daugherty Mode of inheritance for gene: C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.267	CD59	Louise Daugherty Publications for gene: CD59 were set to
06 Jun 2019	Hereditary neuropathy v1.266	CD59	Louise Daugherty Phenotypes for gene: CD59 were changed from to Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300; Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy
06 Jun 2019	Hereditary neuropathy v1.265	CD59	Louise Daugherty Mode of inheritance for gene: CD59 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.264	COA7	Louise Daugherty Phenotypes for gene: COA7 were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy
06 Jun 2019	Hereditary neuropathy v1.263	COA7	Louise Daugherty Publications for gene: COA7 were set to
06 Jun 2019	Hereditary neuropathy v1.262	COA7	Louise Daugherty Mode of inheritance for gene: COA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.261	CPOX	Louise Daugherty Mode of inheritance for gene: CPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.260	CPOX	Louise Daugherty Phenotypes for gene: CPOX were changed from to Coproporphyria, 121300; Harderoporphyria, 121300; Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
06 Jun 2019	Hereditary neuropathy v1.259	CPOX	Louise Daugherty Mode of inheritance for gene: CPOX was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
06 Jun 2019	Hereditary neuropathy v1.258	CYP27A1	Louise Daugherty Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, 213700; 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; SNCV described in a minority of patients
06 Jun 2019	Hereditary neuropathy v1.257	CYP27A1	Louise Daugherty Publications for gene: CYP27A1 were set to 22878431
06 Jun 2019	Hereditary neuropathy v1.256	CYP27A1	Louise Daugherty Publications for gene: CYP27A1 were set to 22878431
06 Jun 2019	Hereditary neuropathy v1.256	CYP27A1	Louise Daugherty Publications for gene: CYP27A1 were set to
06 Jun 2019	Hereditary neuropathy v1.255	CYP27A1	Louise Daugherty Mode of inheritance for gene: CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.254	DARS2	Louise Daugherty Phenotypes for gene: DARS2 were changed from 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
06 Jun 2019	Hereditary neuropathy v1.253	DARS2	Louise Daugherty Publications for gene: DARS2 were set to
06 Jun 2019	Hereditary neuropathy v1.252	DARS2	Louise Daugherty Mode of inheritance for gene: DARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.251	DEGS1	Louise Daugherty Publications for gene: DEGS1 were set to
06 Jun 2019	Hereditary neuropathy v1.250	DEGS1	Louise Daugherty Phenotypes for gene: DEGS1 were changed from to Leukodystrophy, hypomyelinating, 18, 618404; Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition
06 Jun 2019	Hereditary neuropathy v1.249	DEGS1	Louise Daugherty Mode of inheritance for gene: DEGS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.248	DGUOK	Louise Daugherty Publications for gene: DGUOK were set to
06 Jun 2019	Hereditary neuropathy v1.247	DGUOK	Louise Daugherty Phenotypes for gene: DGUOK were changed from to Portal hypertension, noncirrhotic, 617068; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
06 Jun 2019	Hereditary neuropathy v1.246	DGUOK	Louise Daugherty Mode of inheritance for gene: DGUOK was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.245	DNAJC3	Louise Daugherty Publications for gene: DNAJC3 were set to
06 Jun 2019	Hereditary neuropathy v1.244	DNAJC3	Louise Daugherty Phenotypes for gene: DNAJC3 were changed from to Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192; Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus
06 Jun 2019	Hereditary neuropathy v1.243	DNAJC3	Louise Daugherty Mode of inheritance for gene: DNAJC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.242	DSTYK	Louise Daugherty Phenotypes for gene: DSTYK were changed from to Spastic paraplegia 23, 270750; Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).
06 Jun 2019	Hereditary neuropathy v1.241	DSTYK	Louise Daugherty Mode of inheritance for gene: DSTYK was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.240	ERBB3	Louise Daugherty Publications for gene: ERBB3 were set to
06 Jun 2019	Hereditary neuropathy v1.239	ERBB3	Louise Daugherty Phenotypes for gene: ERBB3 were changed from to Lethal congenital contractural syndrome 2, 607598; Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder
06 Jun 2019	Hereditary neuropathy v1.238	ERBB3	Louise Daugherty Mode of inheritance for gene: ERBB3 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.237	ERCC6	Louise Daugherty Phenotypes for gene: ERCC6 were changed from to Cockayne syndrome, type B, 133540; Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
06 Jun 2019	Hereditary neuropathy v1.236	ERCC6	Louise Daugherty Mode of inheritance for gene: ERCC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.235	ERCC8	Louise Daugherty Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type A, 216400; Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
06 Jun 2019	Hereditary neuropathy v1.234	ERCC8	Louise Daugherty Mode of inheritance for gene: ERCC8 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.233	ETFDH	Louise Daugherty Phenotypes for gene: ETFDH were changed from 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
06 Jun 2019	Hereditary neuropathy v1.232	ETFDH	Louise Daugherty Mode of inheritance for gene: ETFDH was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.231	FA2H	Louise Daugherty Publications for gene: FA2H were set to
06 Jun 2019	Hereditary neuropathy v1.230	FA2H	Louise Daugherty Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive, 612319; SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed
06 Jun 2019	Hereditary neuropathy v1.229	FA2H	Louise Daugherty Mode of inheritance for gene: FA2H was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.228	FAH	Louise Daugherty Phenotypes for gene: FAH were changed from to Tyrosinemia, type I, 276700; Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP
06 Jun 2019	Hereditary neuropathy v1.227	FAH	Louise Daugherty Mode of inheritance for gene: FAH was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.226	FAM126A	Louise Daugherty Publications for gene: FAM126A were set to
06 Jun 2019	Hereditary neuropathy v1.225	FAM126A	Louise Daugherty Phenotypes for gene: FAM126A were changed from to Leukodystrophy, hypomyelinating, 5, 610532; Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV
06 Jun 2019	Hereditary neuropathy v1.224	FAM126A	Louise Daugherty Mode of inheritance for gene: FAM126A was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.223	FLVCR1	Louise Daugherty Phenotypes for gene: FLVCR1 were changed from to Ataxia, posterior column, with retinitis pigmentosa, 609033; Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI
06 Jun 2019	Hereditary neuropathy v1.222	FLVCR1	Louise Daugherty Publications for gene: FLVCR1 were set to
06 Jun 2019	Hereditary neuropathy v1.221	FLVCR1	Louise Daugherty Mode of inheritance for gene: FLVCR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.220	GALC	Louise Daugherty Phenotypes for gene: GALC were changed from to Krabbe disease, 245200; 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
06 Jun 2019	Hereditary neuropathy v1.219	GALC	Louise Daugherty Mode of inheritance for gene: GALC was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.218	GBA2	Louise Daugherty Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, 614409; SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy
06 Jun 2019	Hereditary neuropathy v1.217	GBA2	Louise Daugherty Publications for gene: GBA2 were set to
06 Jun 2019	Hereditary neuropathy v1.216	GBA2	Louise Daugherty Mode of inheritance for gene: GBA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.215	GJC2	Louise Daugherty Phenotypes for gene: GJC2 were changed from to Spastic paraplegia 44, autosomal recessive, 613206; 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
06 Jun 2019	Hereditary neuropathy v1.214	GJC2	Louise Daugherty Mode of inheritance for gene: GJC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.213	GLE1	Louise Daugherty Phenotypes for gene: GLE1 were changed from 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
06 Jun 2019	Hereditary neuropathy v1.212	GLE1	Louise Daugherty Publications for gene: GLE1 were set to
06 Jun 2019	Hereditary neuropathy v1.211	GLE1	Louise Daugherty Mode of inheritance for gene: GLE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.210	HMBS	Louise Daugherty Phenotypes for gene: HMBS were changed from to Porphyria, acute intermittent, 176000; AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy
06 Jun 2019	Hereditary neuropathy v1.209	HMBS	Louise Daugherty Mode of inheritance for gene: HMBS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.208	IARS2	Louise Daugherty Phenotypes for gene: IARS2 were changed from to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007; Spondyloepiphyseal dysplasia, congenital cataracts, nystagmus, dysmorphic facies, sensory neuronal hearing loss, growth hormone deficiency, sensory axonal peripheral neuropathy
06 Jun 2019	Hereditary neuropathy v1.207	IARS2	Louise Daugherty Publications for gene: IARS2 were set to
06 Jun 2019	Hereditary neuropathy v1.206	IARS2	Louise Daugherty Mode of inheritance for gene: IARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.205	KCNA2	Louise Daugherty Phenotypes for gene: KCNA2 were changed from to Epileptic encephalopathy, early infantile, 32, 616366; Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family
06 Jun 2019	Hereditary neuropathy v1.204	KCNA2	Louise Daugherty Publications for gene: KCNA2 were set to
06 Jun 2019	Hereditary neuropathy v1.203	KCNA2	Louise Daugherty Mode of inheritance for gene: KCNA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.202	KLC2	Louise Daugherty Phenotypes for gene: KLC2 were changed from to Spastic paraplegia, optic atrophy, and neuropathy, 609541; SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy
06 Jun 2019	Hereditary neuropathy v1.201	KLC2	Louise Daugherty Publications for gene: KLC2 were set to
06 Jun 2019	Hereditary neuropathy v1.200	KLC2	Louise Daugherty Mode of inheritance for gene: KLC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.199	LYST	Louise Daugherty Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, 214500; Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy
06 Jun 2019	Hereditary neuropathy v1.198	LYST	Louise Daugherty Publications for gene: LYST were set to
06 Jun 2019	Hereditary neuropathy v1.197	LYST	Louise Daugherty Mode of inheritance for gene: LYST was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.196	MMACHC	Louise Daugherty Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type, 277400; 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
06 Jun 2019	Hereditary neuropathy v1.195	MMACHC	Louise Daugherty Publications for gene: MMACHC were set to
06 Jun 2019	Hereditary neuropathy v1.194	MMACHC	Louise Daugherty Mode of inheritance for gene: MMACHC was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.193	MT-RNR1	Louise Daugherty Phenotypes for gene: MT-RNR1 were changed from to Parkinsonism, deafness, and sensory-motor axonal neuropathy
06 Jun 2019	Hereditary neuropathy v1.192	MT-TL1	Louise Daugherty Phenotypes for gene: MT-TL1 were changed from to Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy
06 Jun 2019	Hereditary neuropathy v1.191	NAGA	Louise Daugherty Phenotypes for gene: NAGA were changed from 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
06 Jun 2019	Hereditary neuropathy v1.190	NAGA	Louise Daugherty Publications for gene: NAGA were set to
06 Jun 2019	Hereditary neuropathy v1.189	NAGA	Louise Daugherty Mode of inheritance for gene: NAGA was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.188	OPA1	Louise Daugherty Phenotypes for gene: OPA1 were changed from to Optic atrophy 1, 165500; Optic atrophy plus syndrome, 125250; Optic neuropathy, PEO, deafness, myelopathy, sensory-motor axonal neuropathy
06 Jun 2019	Hereditary neuropathy v1.187	OPA1	Louise Daugherty Mode of inheritance for gene: OPA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.186	OPA3	Louise Daugherty Phenotypes for gene: OPA3 were changed from to Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501; Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction
06 Jun 2019	Hereditary neuropathy v1.185	OPA3	Louise Daugherty Mode of inheritance for gene: OPA3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.184	PDYN	Louise Daugherty Phenotypes for gene: PDYN were changed from to Spinocerebellar ataxia 23, 610245; Cerebellar ataxia, sensory-motor axonal neuropathy
06 Jun 2019	Hereditary neuropathy v1.183	PDYN	Louise Daugherty Publications for gene: PDYN were set to
06 Jun 2019	Hereditary neuropathy v1.182	PDYN	Louise Daugherty Mode of inheritance for gene: PDYN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.181	PEX10	Louise Daugherty Phenotypes for gene: PEX10 were changed from to 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 6A (Zellweger), 614870; Peroxisome biogenesis disorder 6B, 614871
06 Jun 2019	Hereditary neuropathy v1.180	PEX10	Louise Daugherty Publications for gene: PEX10 were set to
06 Jun 2019	Hereditary neuropathy v1.179	PMM2	Louise Daugherty Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia, 212065; Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy
06 Jun 2019	Hereditary neuropathy v1.178	PMM2	Louise Daugherty Publications for gene: PMM2 were set to
06 Jun 2019	Hereditary neuropathy v1.177	PMM2	Louise Daugherty Mode of inheritance for gene: PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.176	PNKP	Louise Daugherty Phenotypes for gene: PNKP were changed from to Ataxia-oculomotor apraxia 4, 616267; Microcephaly, seizures, and developmental delay, 613402; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy
06 Jun 2019	Hereditary neuropathy v1.175	PNKP	Louise Daugherty Publications for gene: PNKP were set to
06 Jun 2019	Hereditary neuropathy v1.174	PNKP	Louise Daugherty Mode of inheritance for gene: PNKP was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.173	POLR3A	Louise Daugherty Phenotypes for gene: POLR3A were changed from 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 to 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; Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain
06 Jun 2019	Hereditary neuropathy v1.172	POLR3A	Louise Daugherty Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 to 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
06 Jun 2019	Hereditary neuropathy v1.171	POLR3A	Louise Daugherty Phenotypes for gene: POLR3A were changed from test to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694
06 Jun 2019	Hereditary neuropathy v1.170	POLR3A	Louise Daugherty Phenotypes for gene: POLR3A were changed from to test
06 Jun 2019	Hereditary neuropathy v1.170	POLR3A	Louise Daugherty Phenotypes for gene: POLR3A were changed from to test
06 Jun 2019	Hereditary neuropathy v1.169	POLR3A	Louise Daugherty Publications for gene: POLR3A were set to
06 Jun 2019	Hereditary neuropathy v1.168	POLR3A	Louise Daugherty Mode of inheritance for gene: POLR3A was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.167	PPOX	Louise Daugherty Phenotypes for gene: PPOX were changed from to Porphyria variegata, 176200; Skin photosensitivity. Acute episodes similar to AIP
06 Jun 2019	Hereditary neuropathy v1.166	PPOX	Louise Daugherty Mode of inheritance for gene: PPOX was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.165	PRKCG	Louise Daugherty Phenotypes for gene: PRKCG were changed from Hereditary Neuropathies to Hereditary Neuropathies; 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; Spinocerebellar ataxia 14, 605361
06 Jun 2019	Hereditary neuropathy v1.164	PRKCG	Louise Daugherty Publications for gene: PRKCG were set to 26633542
06 Jun 2019	Hereditary neuropathy v1.163	PRKCG	Louise Daugherty Mode of inheritance for gene: PRKCG was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.162	PTEN	Louise Daugherty Phenotypes for gene: PTEN were changed from multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas to Cowden syndrome 1, 158350; multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas
06 Jun 2019	Hereditary neuropathy v1.161	PTEN	Louise Daugherty Phenotypes for gene: PTEN were changed from to multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas
06 Jun 2019	Hereditary neuropathy v1.160	PTEN	Louise Daugherty Mode of inheritance for gene: PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.159	PTRH2	Louise Daugherty Publications for gene: PTRH2 were set to
06 Jun 2019	Hereditary neuropathy v1.158	PTRH2	Louise Daugherty Phenotypes for gene: PTRH2 were changed from 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
06 Jun 2019	Hereditary neuropathy v1.157	PTRH2	Louise Daugherty Mode of inheritance for gene: PTRH2 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.156	SCARB2	Louise Daugherty Phenotypes for gene: SCARB2 were changed from 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)
06 Jun 2019	Hereditary neuropathy v1.155	SCARB2	Louise Daugherty Publications for gene: SCARB2 were set to
06 Jun 2019	Hereditary neuropathy v1.154	SCARB2	Louise Daugherty Mode of inheritance for gene: SCARB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.153	SCP2	Louise Daugherty Phenotypes for gene: SCP2 were changed from to Leukoencephalopathy with dystonia and motor neuropathy, 613724; Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI
06 Jun 2019	Hereditary neuropathy v1.152	SCP2	Louise Daugherty Publications for gene: SCP2 were set to
06 Jun 2019	Hereditary neuropathy v1.151	SCP2	Louise Daugherty Mode of inheritance for gene: SCP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.150	SCYL1	Louise Daugherty Phenotypes for gene: SCYL1 were changed from to Spinocerebellar ataxia, autosomal recessive 21, 616719; Early onset ataxia (<1 yr) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
06 Jun 2019	Hereditary neuropathy v1.149	SCYL1	Louise Daugherty Publications for gene: SCYL1 were set to
06 Jun 2019	Hereditary neuropathy v1.148	SCYL1	Louise Daugherty Mode of inheritance for gene: SCYL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.147	SELENOI	Louise Daugherty Phenotypes for gene: SELENOI were changed from 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
06 Jun 2019	Hereditary neuropathy v1.146	SELENOI	Louise Daugherty Mode of inheritance for gene: SELENOI was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.145	SLC25A19	Louise Daugherty Phenotypes for gene: SLC25A19 were changed from to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710; 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
06 Jun 2019	Hereditary neuropathy v1.144	SLC25A19	Louise Daugherty Publications for gene: SLC25A19 were set to
06 Jun 2019	Hereditary neuropathy v1.143	SLC25A19	Louise Daugherty Mode of inheritance for gene: SLC25A19 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.142	SLC25A46	Louise Daugherty Phenotypes for gene: SLC25A46 were changed from 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, 616505; Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy
06 Jun 2019	Hereditary neuropathy v1.141	SLC25A46	Louise Daugherty Phenotypes for gene: SLC25A46 were changed from to Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy
06 Jun 2019	Hereditary neuropathy v1.140	SLC25A46	Louise Daugherty Publications for gene: SLC25A46 were set to
06 Jun 2019	Hereditary neuropathy v1.139	SLC25A46	Louise Daugherty Mode of inheritance for gene: SLC25A46 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.138	SUCLA2	Louise Daugherty Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073; Leigh like syndrome, deafness, progressive dystonia, mild methylmaolic acidaemia
06 Jun 2019	Hereditary neuropathy v1.137	SUCLA2	Louise Daugherty Publications for gene: SUCLA2 were set to
06 Jun 2019	Hereditary neuropathy v1.136	SUCLA2	Louise Daugherty Mode of inheritance for gene: SUCLA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.135	VPS13A	Louise Daugherty Phenotypes for gene: VPS13A were changed from 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 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
06 Jun 2019	Hereditary neuropathy v1.134	XK	Louise Daugherty Phenotypes for gene: XK were changed from Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy to McLeod syndrome with or without chronic granulomatous disease, 300842; Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy
06 Jun 2019	Hereditary neuropathy v1.133	XPA	Louise Daugherty Phenotypes for gene: XPA were changed from Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy to Xeroderma pigmentosum, group A, 278700; Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy
06 Jun 2019	Hereditary neuropathy v1.132	XPA	Louise Daugherty Mode of inheritance for gene: XPA was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.131	XRCC1	Louise Daugherty Phenotypes for gene: XRCC1 were changed from Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy to Spinocerebellar ataxia, autosomal recessive 26, 617633; Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy
06 Jun 2019	Hereditary neuropathy v1.130	VPS13A	Louise Daugherty Phenotypes for gene: VPS13A were changed from to 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
06 Jun 2019	Hereditary neuropathy v1.129	VPS13A	Louise Daugherty Mode of inheritance for gene: VPS13A was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.128	XK	Louise Daugherty Phenotypes for gene: XK were changed from to Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy
06 Jun 2019	Hereditary neuropathy v1.127	XK	Louise Daugherty Mode of inheritance for gene: XK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
06 Jun 2019	Hereditary neuropathy v1.126	XPA	Louise Daugherty Phenotypes for gene: XPA were changed from to Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy
06 Jun 2019	Hereditary neuropathy v1.125	XPA	Louise Daugherty Publications for gene: XPA were set to
06 Jun 2019	Hereditary neuropathy v1.125	XPA	Louise Daugherty Publications for gene: XPA were set to
06 Jun 2019	Hereditary neuropathy v1.124	XRCC1	Louise Daugherty Phenotypes for gene: XRCC1 were changed from to Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy
06 Jun 2019	Hereditary neuropathy v1.123	XRCC1	Louise Daugherty Publications for gene: XRCC1 were set to
06 Jun 2019	Hereditary neuropathy v1.122	XRCC1	Louise Daugherty Mode of inheritance for gene: XRCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	XRCC1	Alexander Rossor reviewed gene: XRCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29472272, 28002403; Phenotypes: Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	XPA	Alexander Rossor reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 2168777; Phenotypes: Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	XK	Alexander Rossor reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
06 Jun 2019	Hereditary neuropathy v1.121	VPS13A	Alexander Rossor reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	SUCLA2	Alexander Rossor reviewed gene: SUCLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17287286; Phenotypes: Leigh like syndrome, deafness, progressive dystonia, mild methylmaolic acidaemia.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	SLC25A46	Alexander Rossor reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: 26168012; Phenotypes: Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	SLC25A19	Alexander Rossor reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: ; Publications: 19798730; Phenotypes: 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 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	SELENOI	Alexander Rossor reviewed gene: SELENOI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	SCYL1	Alexander Rossor reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26581903; Phenotypes: Early onset ataxia (<1 yr) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	SCP2	Alexander Rossor reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: ; Publications: 16685654; Phenotypes: Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	SCARB2	Alexander Rossor reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21670406, 19597094; Phenotypes: Progressive myoclonic epilepsy with preserved cognition, onset 2nd decade, renal impairment, rarely demyelinating sensory-motor neuropathy (without renal failure); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	PTRH2	Alexander Rossor reviewed gene: PTRH2: Rating: AMBER; Mode of pathogenicity: ; Publications: 25572476, 25558065; Phenotypes: Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	PTEN	Alexander Rossor reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.121	PRKCG	Alexander Rossor edited their review of gene: PRKCG: Added comment: Neuropathy rare feature; Changed rating: GREEN; Changed phenotypes: 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.
06 Jun 2019	Hereditary neuropathy v1.121	PPOX	Alexander Rossor reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Skin photosensitivity. Acute episodes similar to AIP.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.121	POLR3A	Alexander Rossor reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28459997; Phenotypes: Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications (hypodontia, severe peridontal disease. Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain. Abnormal nerve conduction in 8 out of 14 cases.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	PNKP	Alexander Rossor reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: ; Publications: 30039206; Phenotypes: Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	PMM2	Alexander Rossor reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9140401; Phenotypes: Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy. ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	PEX10	Alexander Rossor reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: 27230853, 20695019; Phenotypes: 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	PDYN	Alexander Rossor reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21035104; Phenotypes: Cerebellar ataxia, sensory-motor axonal neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.121	OPA3	Alexander Rossor reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	OPA1	Alexander Rossor reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic neuropathy, PEO, deafness, myelopathy, sensory-motor axonal neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.121	NAGA	Alexander Rossor reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 15136691; Phenotypes: Kanzaki disease. Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	MT-TL1	Alexander Rossor reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy; Mode of inheritance: MITOCHONDRIAL
06 Jun 2019	Hereditary neuropathy v1.121	MT-RNR1	Alexander Rossor reviewed gene: MT-RNR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinsonism, deafness, and sensory-motor axonal neuropathy; Mode of inheritance: MITOCHONDRIAL
06 Jun 2019	Hereditary neuropathy v1.121	MMACHC	Alexander Rossor reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20610126; Phenotypes: 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.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	LYST	Alexander Rossor reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: 27669550; Phenotypes: Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	KLC2	Alexander Rossor reviewed gene: KLC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26385635; Phenotypes: SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	KCNA2	Alexander Rossor reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27543892; Phenotypes: Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.121	IARS2	Alexander Rossor reviewed gene: IARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25130867, 28328135, 30041933, 30419932; Phenotypes: Spondyloepiphyseal dysplasia, congenital cataracts, nystagmus, dysmorphic facies, sensory neuronal hearing loss, growth hormone deficiency, sensory axonal peripheral neuropathy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	HMBS	Alexander Rossor reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.121	GLE1	Alexander Rossor reviewed gene: GLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: 18204449; Phenotypes: Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	GJC2	Alexander Rossor reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	GBA2	Alexander Rossor reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23332916; Phenotypes: SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	GALC	Alexander Rossor reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	FLVCR1	Alexander Rossor reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21070897; Phenotypes: Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	FAM126A	Alexander Rossor reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: ; Publications: 16951682; Phenotypes: Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	FAH	Alexander Rossor reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	FA2H	Alexander Rossor reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: 22146942; Phenotypes: SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	ETFDH	Alexander Rossor reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 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.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	ERCC8	Alexander Rossor reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	ERCC6	Alexander Rossor reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	ERBB3	Alexander Rossor reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: 17709104; Phenotypes: Multiple joint contractures,, anterior horn atrophy, death in neonatal period, distended urinary bladder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	DSTYK	Alexander Rossor reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: ; Publications: 28157540; Phenotypes: Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	DNAJC3	Alexander Rossor reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25466870; Phenotypes: Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	DGUOK	Alexander Rossor reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: ; Publications: 15883261; Phenotypes: Neonatal liver failure, myopathy, sensory-motor axonal neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	DEGS1	Alexander Rossor reviewed gene: DEGS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30620338, 30620337; Phenotypes: Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	DARS2	Alexander Rossor reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938; Phenotypes: Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	CYP27A1	Alexander Rossor reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22878431; Phenotypes: Cerebrotendinous Xanthomatosis. 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>motor axonal neuropathy, SNCV described in a minority of patients; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	CPOX	Alexander Rossor reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.121	COA7	Alexander Rossor reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29718187; Phenotypes: Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	CD59	Alexander Rossor reviewed gene: CD59: Rating: GREEN; Mode of pathogenicity: ; Publications: 23149847, 24382084; Phenotypes: Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	C19orf12	Alexander Rossor reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: 20039086, 23857908; Phenotypes: SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	BCKDHB	Alexander Rossor reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 18855118, 11180212; Phenotypes: Maple Syrup Urine Disease, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropathy ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	B4GALNT1	Alexander Rossor reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746551; Phenotypes: SPG26, Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	ARSA	Alexander Rossor reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	ARL6IP1	Alexander Rossor reviewed gene: ARL6IP1: Rating: RED; Mode of pathogenicity: ; Publications: 24482476; Phenotypes: Childhood onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	APOA1	Alexander Rossor reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23730806; Phenotypes: Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jun 2019	Hereditary neuropathy v1.121	AP1S1	Alexander Rossor reviewed gene: AP1S1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19057675; Phenotypes: Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	AGXT	Alexander Rossor reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: ; Publications: 4701948, 25363903; Phenotypes: Renal failure and deposition of calcium oxalate crystals in tissues including nerve and muscle. Sensory and motor axonal neuropathy (some slowing); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	AGTPBP1	Alexander Rossor reviewed gene: AGTPBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30420557; Phenotypes: Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	ABHD12	Alexander Rossor reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29571850, 20797687; Phenotypes: Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.121	ABCA1	Alexander Rossor reviewed gene: ABCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29582519; Phenotypes: Tangier disease. Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly, pain, paresthesias, anaesthesia.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2019	Hereditary neuropathy v1.120	ZFYVE26	Louise Daugherty Source London North GLH was added to ZFYVE26.
06 Jun 2019	Hereditary neuropathy v1.120	VRK1	Louise Daugherty Source London North GLH was added to VRK1.
06 Jun 2019	Hereditary neuropathy v1.120	TWNK	Louise Daugherty Source London North GLH was added to TWNK.
06 Jun 2019	Hereditary neuropathy v1.120	TTPA	Louise Daugherty Source London North GLH was added to TTPA.
06 Jun 2019	Hereditary neuropathy v1.120	SPG7	Louise Daugherty Source London North GLH was added to SPG7.
06 Jun 2019	Hereditary neuropathy v1.120	SOX10	Louise Daugherty Source London North GLH was added to SOX10.
06 Jun 2019	Hereditary neuropathy v1.120	PTPN11	Louise Daugherty Source London North GLH was added to PTPN11.
06 Jun 2019	Hereditary neuropathy v1.120	PRKCG	Louise Daugherty Source London North GLH was added to PRKCG.
06 Jun 2019	Hereditary neuropathy v1.120	PNPLA6	Louise Daugherty Source London North GLH was added to PNPLA6.
06 Jun 2019	Hereditary neuropathy v1.120	PLP1	Louise Daugherty Source London North GLH was added to PLP1.
06 Jun 2019	Hereditary neuropathy v1.120	PDK3	Louise Daugherty Source London North GLH was added to PDK3.
06 Jun 2019	Hereditary neuropathy v1.120	MYH14	Louise Daugherty Source London North GLH was added to MYH14.
06 Jun 2019	Hereditary neuropathy v1.120	MTTP	Louise Daugherty Source London North GLH was added to MTTP.
06 Jun 2019	Hereditary neuropathy v1.120	HADHB	Louise Daugherty Source London North GLH was added to HADHB.
06 Jun 2019	Hereditary neuropathy v1.120	HADHA	Louise Daugherty Source London North GLH was added to HADHA.
06 Jun 2019	Hereditary neuropathy v1.120	DST	Louise Daugherty Source London North GLH was added to DST.
06 Jun 2019	Hereditary neuropathy v1.120	DRP2	Louise Daugherty Source London North GLH was added to DRP2.
06 Jun 2019	Hereditary neuropathy v1.119	SELENOI	Louise Daugherty Source NHS GMS was added to SELENOI.
06 Jun 2019	Hereditary neuropathy v1.119	SCP2	Louise Daugherty Source NHS GMS was added to SCP2.
06 Jun 2019	Hereditary neuropathy v1.119	DSTYK	Louise Daugherty Source NHS GMS was added to DSTYK.
06 Jun 2019	Hereditary neuropathy v1.119	ARL6IP1	Louise Daugherty Source NHS GMS was added to ARL6IP1.
06 Jun 2019	Hereditary neuropathy v1.119	SUCLA2	Louise Daugherty Source NHS GMS was added to SUCLA2.
06 Jun 2019	Hereditary neuropathy v1.119	PTRH2	Louise Daugherty Source NHS GMS was added to PTRH2.
06 Jun 2019	Hereditary neuropathy v1.119	KLC2	Louise Daugherty Source NHS GMS was added to KLC2.
06 Jun 2019	Hereditary neuropathy v1.119	GLE1	Louise Daugherty Source NHS GMS was added to GLE1.
06 Jun 2019	Hereditary neuropathy v1.119	GJC2	Louise Daugherty Source NHS GMS was added to GJC2.
06 Jun 2019	Hereditary neuropathy v1.119	FA2H	Louise Daugherty Source NHS GMS was added to FA2H.
06 Jun 2019	Hereditary neuropathy v1.119	ERBB3	Louise Daugherty Source NHS GMS was added to ERBB3.
06 Jun 2019	Hereditary neuropathy v1.119	DGUOK	Louise Daugherty Source NHS GMS was added to DGUOK.
06 Jun 2019	Hereditary neuropathy v1.119	C19orf12	Louise Daugherty Source NHS GMS was added to C19orf12.
06 Jun 2019	Hereditary neuropathy v1.119	XRCC1	Louise Daugherty Source NHS GMS was added to XRCC1.
06 Jun 2019	Hereditary neuropathy v1.119	XPA	Louise Daugherty Source NHS GMS was added to XPA.
06 Jun 2019	Hereditary neuropathy v1.119	XK	Louise Daugherty Source NHS GMS was added to XK.
06 Jun 2019	Hereditary neuropathy v1.119	VPS13A	Louise Daugherty Source NHS GMS was added to VPS13A.
06 Jun 2019	Hereditary neuropathy v1.119	SLC25A46	Louise Daugherty Source NHS GMS was added to SLC25A46.
06 Jun 2019	Hereditary neuropathy v1.119	SLC25A19	Louise Daugherty Source NHS GMS was added to SLC25A19.
06 Jun 2019	Hereditary neuropathy v1.119	SCYL1	Louise Daugherty Source NHS GMS was added to SCYL1.
06 Jun 2019	Hereditary neuropathy v1.119	SCARB2	Louise Daugherty Source NHS GMS was added to SCARB2.
06 Jun 2019	Hereditary neuropathy v1.119	PTEN	Louise Daugherty Source NHS GMS was added to PTEN.
06 Jun 2019	Hereditary neuropathy v1.119	PPOX	Louise Daugherty Source NHS GMS was added to PPOX.
06 Jun 2019	Hereditary neuropathy v1.119	POLR3A	Louise Daugherty Source NHS GMS was added to POLR3A.
06 Jun 2019	Hereditary neuropathy v1.119	PNKP	Louise Daugherty Source NHS GMS was added to PNKP.
06 Jun 2019	Hereditary neuropathy v1.119	PMM2	Louise Daugherty Source NHS GMS was added to PMM2.
06 Jun 2019	Hereditary neuropathy v1.119	PEX10	Louise Daugherty Source NHS GMS was added to PEX10.
06 Jun 2019	Hereditary neuropathy v1.119	PDYN	Louise Daugherty Source NHS GMS was added to PDYN.
06 Jun 2019	Hereditary neuropathy v1.119	OPA3	Louise Daugherty Source NHS GMS was added to OPA3.
06 Jun 2019	Hereditary neuropathy v1.119	OPA1	Louise Daugherty Source NHS GMS was added to OPA1.
06 Jun 2019	Hereditary neuropathy v1.119	NAGA	Louise Daugherty Source NHS GMS was added to NAGA.
06 Jun 2019	Hereditary neuropathy v1.119	MT-TL1	Louise Daugherty Source NHS GMS was added to MT-TL1.
06 Jun 2019	Hereditary neuropathy v1.119	MT-RNR1	Louise Daugherty Source NHS GMS was added to MT-RNR1.
06 Jun 2019	Hereditary neuropathy v1.119	MMACHC	Louise Daugherty Source NHS GMS was added to MMACHC.
06 Jun 2019	Hereditary neuropathy v1.119	LYST	Louise Daugherty Source NHS GMS was added to LYST.
06 Jun 2019	Hereditary neuropathy v1.119	KCNA2	Louise Daugherty Source NHS GMS was added to KCNA2.
06 Jun 2019	Hereditary neuropathy v1.119	IARS2	Louise Daugherty Source NHS GMS was added to IARS2.
06 Jun 2019	Hereditary neuropathy v1.119	HMBS	Louise Daugherty Source NHS GMS was added to HMBS.
06 Jun 2019	Hereditary neuropathy v1.119	GBA2	Louise Daugherty Source NHS GMS was added to GBA2.
06 Jun 2019	Hereditary neuropathy v1.119	GALC	Louise Daugherty Source NHS GMS was added to GALC.
06 Jun 2019	Hereditary neuropathy v1.119	FLVCR1	Louise Daugherty Source NHS GMS was added to FLVCR1.
06 Jun 2019	Hereditary neuropathy v1.119	FAM126A	Louise Daugherty Source NHS GMS was added to FAM126A.
06 Jun 2019	Hereditary neuropathy v1.119	FAH	Louise Daugherty Source NHS GMS was added to FAH.
06 Jun 2019	Hereditary neuropathy v1.119	ETFDH	Louise Daugherty Source NHS GMS was added to ETFDH.
06 Jun 2019	Hereditary neuropathy v1.119	ERCC8	Louise Daugherty Source NHS GMS was added to ERCC8.
06 Jun 2019	Hereditary neuropathy v1.119	ERCC6	Louise Daugherty Source NHS GMS was added to ERCC6.
06 Jun 2019	Hereditary neuropathy v1.119	DNAJC3	Louise Daugherty Source NHS GMS was added to DNAJC3.
06 Jun 2019	Hereditary neuropathy v1.119	DEGS1	Louise Daugherty Source NHS GMS was added to DEGS1.
06 Jun 2019	Hereditary neuropathy v1.119	DARS2	Louise Daugherty Source NHS GMS was added to DARS2.
06 Jun 2019	Hereditary neuropathy v1.119	CYP27A1	Louise Daugherty Source NHS GMS was added to CYP27A1.
06 Jun 2019	Hereditary neuropathy v1.119	CPOX	Louise Daugherty Source NHS GMS was added to CPOX.
06 Jun 2019	Hereditary neuropathy v1.119	COA7	Louise Daugherty Source NHS GMS was added to COA7.
06 Jun 2019	Hereditary neuropathy v1.119	CD59	Louise Daugherty Source NHS GMS was added to CD59.
06 Jun 2019	Hereditary neuropathy v1.119	BCKDHB	Louise Daugherty Source NHS GMS was added to BCKDHB.
06 Jun 2019	Hereditary neuropathy v1.119	B4GALNT1	Louise Daugherty Source NHS GMS was added to B4GALNT1.
06 Jun 2019	Hereditary neuropathy v1.119	ARSA	Louise Daugherty Source NHS GMS was added to ARSA.
06 Jun 2019	Hereditary neuropathy v1.119	APOA1	Louise Daugherty Source NHS GMS was added to APOA1.
06 Jun 2019	Hereditary neuropathy v1.119	AP1S1	Louise Daugherty Source NHS GMS was added to AP1S1.
06 Jun 2019	Hereditary neuropathy v1.119	AGXT	Louise Daugherty Source NHS GMS was added to AGXT.
06 Jun 2019	Hereditary neuropathy v1.119	AGTPBP1	Louise Daugherty Source NHS GMS was added to AGTPBP1.
06 Jun 2019	Hereditary neuropathy v1.119	ABHD12	Louise Daugherty Source NHS GMS was added to ABHD12.
06 Jun 2019	Hereditary neuropathy v1.119	ABCA1	Louise Daugherty Source NHS GMS was added to ABCA1.
06 Jun 2019	Hereditary neuropathy v1.118	SELENOI	Louise Daugherty gene: SELENOI was added gene: SELENOI was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: SELENOI was set to
06 Jun 2019	Hereditary neuropathy v1.118	SCP2	Louise Daugherty gene: SCP2 was added gene: SCP2 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: SCP2 was set to
06 Jun 2019	Hereditary neuropathy v1.118	DSTYK	Louise Daugherty gene: DSTYK was added gene: DSTYK was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: DSTYK was set to
06 Jun 2019	Hereditary neuropathy v1.118	ARL6IP1	Louise Daugherty gene: ARL6IP1 was added gene: ARL6IP1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: ARL6IP1 was set to
06 Jun 2019	Hereditary neuropathy v1.118	SUCLA2	Louise Daugherty gene: SUCLA2 was added gene: SUCLA2 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: SUCLA2 was set to
06 Jun 2019	Hereditary neuropathy v1.118	PTRH2	Louise Daugherty gene: PTRH2 was added gene: PTRH2 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: PTRH2 was set to
06 Jun 2019	Hereditary neuropathy v1.118	KLC2	Louise Daugherty gene: KLC2 was added gene: KLC2 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: KLC2 was set to
06 Jun 2019	Hereditary neuropathy v1.118	GLE1	Louise Daugherty gene: GLE1 was added gene: GLE1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: GLE1 was set to
06 Jun 2019	Hereditary neuropathy v1.118	GJC2	Louise Daugherty gene: GJC2 was added gene: GJC2 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: GJC2 was set to
06 Jun 2019	Hereditary neuropathy v1.118	FA2H	Louise Daugherty gene: FA2H was added gene: FA2H was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: FA2H was set to
06 Jun 2019	Hereditary neuropathy v1.118	ERBB3	Louise Daugherty gene: ERBB3 was added gene: ERBB3 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: ERBB3 was set to
06 Jun 2019	Hereditary neuropathy v1.118	DGUOK	Louise Daugherty gene: DGUOK was added gene: DGUOK was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: DGUOK was set to
06 Jun 2019	Hereditary neuropathy v1.118	C19orf12	Louise Daugherty gene: C19orf12 was added gene: C19orf12 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: C19orf12 was set to
06 Jun 2019	Hereditary neuropathy v1.118	XRCC1	Louise Daugherty gene: XRCC1 was added gene: XRCC1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: XRCC1 was set to
06 Jun 2019	Hereditary neuropathy v1.118	XPA	Louise Daugherty gene: XPA was added gene: XPA was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: XPA was set to
06 Jun 2019	Hereditary neuropathy v1.118	XK	Louise Daugherty gene: XK was added gene: XK was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: XK was set to
06 Jun 2019	Hereditary neuropathy v1.118	VPS13A	Louise Daugherty gene: VPS13A was added gene: VPS13A was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: VPS13A was set to
06 Jun 2019	Hereditary neuropathy v1.118	SLC25A46	Louise Daugherty gene: SLC25A46 was added gene: SLC25A46 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: SLC25A46 was set to
06 Jun 2019	Hereditary neuropathy v1.118	SLC25A19	Louise Daugherty gene: SLC25A19 was added gene: SLC25A19 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: SLC25A19 was set to
06 Jun 2019	Hereditary neuropathy v1.118	SCYL1	Louise Daugherty gene: SCYL1 was added gene: SCYL1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: SCYL1 was set to
06 Jun 2019	Hereditary neuropathy v1.118	SCARB2	Louise Daugherty gene: SCARB2 was added gene: SCARB2 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: SCARB2 was set to
06 Jun 2019	Hereditary neuropathy v1.118	PTEN	Louise Daugherty gene: PTEN was added gene: PTEN was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: PTEN was set to
06 Jun 2019	Hereditary neuropathy v1.118	PPOX	Louise Daugherty gene: PPOX was added gene: PPOX was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: PPOX was set to
06 Jun 2019	Hereditary neuropathy v1.118	POLR3A	Louise Daugherty gene: POLR3A was added gene: POLR3A was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: POLR3A was set to
06 Jun 2019	Hereditary neuropathy v1.118	PNKP	Louise Daugherty gene: PNKP was added gene: PNKP was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: PNKP was set to
06 Jun 2019	Hereditary neuropathy v1.118	PMM2	Louise Daugherty gene: PMM2 was added gene: PMM2 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: PMM2 was set to
06 Jun 2019	Hereditary neuropathy v1.118	PEX10	Louise Daugherty gene: PEX10 was added gene: PEX10 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: PEX10 was set to
06 Jun 2019	Hereditary neuropathy v1.118	PDYN	Louise Daugherty gene: PDYN was added gene: PDYN was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: PDYN was set to
06 Jun 2019	Hereditary neuropathy v1.118	OPA3	Louise Daugherty gene: OPA3 was added gene: OPA3 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: OPA3 was set to
06 Jun 2019	Hereditary neuropathy v1.118	OPA1	Louise Daugherty gene: OPA1 was added gene: OPA1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: OPA1 was set to
06 Jun 2019	Hereditary neuropathy v1.118	NAGA	Louise Daugherty gene: NAGA was added gene: NAGA was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: NAGA was set to
06 Jun 2019	Hereditary neuropathy v1.118	MT-TL1	Louise Daugherty gene: MT-TL1 was added gene: MT-TL1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
06 Jun 2019	Hereditary neuropathy v1.118	MT-RNR1	Louise Daugherty gene: MT-RNR1 was added gene: MT-RNR1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
06 Jun 2019	Hereditary neuropathy v1.118	MMACHC	Louise Daugherty gene: MMACHC was added gene: MMACHC was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: MMACHC was set to
06 Jun 2019	Hereditary neuropathy v1.118	LYST	Louise Daugherty gene: LYST was added gene: LYST was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: LYST was set to
06 Jun 2019	Hereditary neuropathy v1.118	KCNA2	Louise Daugherty gene: KCNA2 was added gene: KCNA2 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: KCNA2 was set to
06 Jun 2019	Hereditary neuropathy v1.118	IARS2	Louise Daugherty gene: IARS2 was added gene: IARS2 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: IARS2 was set to
06 Jun 2019	Hereditary neuropathy v1.118	HMBS	Louise Daugherty gene: HMBS was added gene: HMBS was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: HMBS was set to
06 Jun 2019	Hereditary neuropathy v1.118	GBA2	Louise Daugherty gene: GBA2 was added gene: GBA2 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: GBA2 was set to
06 Jun 2019	Hereditary neuropathy v1.118	GALC	Louise Daugherty gene: GALC was added gene: GALC was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: GALC was set to
06 Jun 2019	Hereditary neuropathy v1.118	FLVCR1	Louise Daugherty gene: FLVCR1 was added gene: FLVCR1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: FLVCR1 was set to
06 Jun 2019	Hereditary neuropathy v1.118	FAM126A	Louise Daugherty gene: FAM126A was added gene: FAM126A was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: FAM126A was set to
06 Jun 2019	Hereditary neuropathy v1.118	FAH	Louise Daugherty gene: FAH was added gene: FAH was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: FAH was set to
06 Jun 2019	Hereditary neuropathy v1.118	ETFDH	Louise Daugherty gene: ETFDH was added gene: ETFDH was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: ETFDH was set to
06 Jun 2019	Hereditary neuropathy v1.118	ERCC8	Louise Daugherty gene: ERCC8 was added gene: ERCC8 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: ERCC8 was set to
06 Jun 2019	Hereditary neuropathy v1.118	ERCC6	Louise Daugherty gene: ERCC6 was added gene: ERCC6 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: ERCC6 was set to
06 Jun 2019	Hereditary neuropathy v1.118	DNAJC3	Louise Daugherty gene: DNAJC3 was added gene: DNAJC3 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: DNAJC3 was set to
06 Jun 2019	Hereditary neuropathy v1.118	DEGS1	Louise Daugherty gene: DEGS1 was added gene: DEGS1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: DEGS1 was set to
06 Jun 2019	Hereditary neuropathy v1.118	DARS2	Louise Daugherty gene: DARS2 was added gene: DARS2 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: DARS2 was set to
06 Jun 2019	Hereditary neuropathy v1.118	CYP27A1	Louise Daugherty gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: CYP27A1 was set to
06 Jun 2019	Hereditary neuropathy v1.118	CPOX	Louise Daugherty gene: CPOX was added gene: CPOX was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: CPOX was set to
06 Jun 2019	Hereditary neuropathy v1.118	COA7	Louise Daugherty gene: COA7 was added gene: COA7 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: COA7 was set to
06 Jun 2019	Hereditary neuropathy v1.118	CD59	Louise Daugherty gene: CD59 was added gene: CD59 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: CD59 was set to
06 Jun 2019	Hereditary neuropathy v1.118	BCKDHB	Louise Daugherty gene: BCKDHB was added gene: BCKDHB was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: BCKDHB was set to
06 Jun 2019	Hereditary neuropathy v1.118	B4GALNT1	Louise Daugherty gene: B4GALNT1 was added gene: B4GALNT1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: B4GALNT1 was set to
06 Jun 2019	Hereditary neuropathy v1.118	ARSA	Louise Daugherty gene: ARSA was added gene: ARSA was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: ARSA was set to
06 Jun 2019	Hereditary neuropathy v1.118	APOA1	Louise Daugherty gene: APOA1 was added gene: APOA1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: APOA1 was set to
06 Jun 2019	Hereditary neuropathy v1.118	AP1S1	Louise Daugherty gene: AP1S1 was added gene: AP1S1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: AP1S1 was set to
06 Jun 2019	Hereditary neuropathy v1.118	AGXT	Louise Daugherty gene: AGXT was added gene: AGXT was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: AGXT was set to
06 Jun 2019	Hereditary neuropathy v1.118	AGTPBP1	Louise Daugherty gene: AGTPBP1 was added gene: AGTPBP1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: AGTPBP1 was set to
06 Jun 2019	Hereditary neuropathy v1.118	ABHD12	Louise Daugherty gene: ABHD12 was added gene: ABHD12 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: ABHD12 was set to
06 Jun 2019	Hereditary neuropathy v1.118	ABCA1	Louise Daugherty gene: ABCA1 was added gene: ABCA1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: ABCA1 was set to
05 Jun 2019	Hereditary neuropathy v1.117	WARS	Louise Daugherty Mode of inheritance for gene: WARS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
05 Jun 2019	Hereditary neuropathy v1.116	PMP2	Louise Daugherty Phenotypes for gene: PMP2 were changed from to Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
05 Jun 2019	Hereditary neuropathy v1.115	PMP2	Louise Daugherty Mode of inheritance for gene: PMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
05 Jun 2019	Hereditary neuropathy v1.114	NEFH	Louise Daugherty Phenotypes for gene: NEFH were changed from to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924
05 Jun 2019	Hereditary neuropathy v1.114	NEFH	Louise Daugherty Phenotypes for gene: NEFH were changed from to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924
05 Jun 2019	Hereditary neuropathy v1.113	NEFH	Louise Daugherty Mode of inheritance for gene: NEFH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
05 Jun 2019	Hereditary neuropathy v1.112	MCM3AP	Louise Daugherty Mode of inheritance for gene: MCM3AP was changed from to BIALLELIC, autosomal or pseudoautosomal
05 Jun 2019	Hereditary neuropathy v1.111	MCM3AP	Louise Daugherty Phenotypes for gene: MCM3AP were changed from to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
05 Jun 2019	Hereditary neuropathy v1.110	HADHB	Louise Daugherty Mode of inheritance for gene: HADHB was changed from to BIALLELIC, autosomal or pseudoautosomal
05 Jun 2019	Hereditary neuropathy v1.109	HADHA	Louise Daugherty Phenotypes for gene: HADHA were changed from to Trifunctional protein deficiency, 609015
05 Jun 2019	Hereditary neuropathy v1.108	HADHB	Louise Daugherty Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, 609015
05 Jun 2019	Hereditary neuropathy v1.107	CNTNAP1	Louise Daugherty Mode of inheritance for gene: CNTNAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
05 Jun 2019	Hereditary neuropathy v1.106	CNTNAP1	Louise Daugherty Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, 618186
05 Jun 2019	Hereditary neuropathy v1.105	ZFYVE26	Louise Daugherty 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 to Spastic paraplegia 15, autosomal recessive, 270700; 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
05 Jun 2019	Hereditary neuropathy v1.104	ZFYVE26	Louise Daugherty Phenotypes for gene: ZFYVE26 were changed from Hereditary Neuropathies 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
05 Jun 2019	Hereditary neuropathy v1.103	ZFYVE26	Louise Daugherty Mode of inheritance for gene: ZFYVE26 was changed from to BIALLELIC, autosomal or pseudoautosomal
05 Jun 2019	Hereditary neuropathy v1.102	WARS	Louise Daugherty Phenotypes for gene: WARS were changed from to Neuronopathy, distal hereditary motor, type IX, 617721
05 Jun 2019	Hereditary neuropathy v1.101	VCP	Louise Daugherty Publications for gene: VCP were set to PMID: 26574898; 25125609; PMID: 25878907
05 Jun 2019	Hereditary neuropathy v1.100	TWNK	Louise Daugherty Phenotypes for gene: TWNK were changed from Hereditary Neuropathies to Hereditary Neuropathies; Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy
05 Jun 2019	Hereditary neuropathy v1.99	TWNK	Louise Daugherty Mode of inheritance for gene: TWNK was changed from to BIALLELIC, autosomal or pseudoautosomal
05 Jun 2019	Hereditary neuropathy v1.98	TTPA	Louise Daugherty Phenotypes for gene: TTPA were changed from Hereditary Neuropathies 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 Jun 2019	Hereditary neuropathy v1.97	TTPA	Louise Daugherty Mode of inheritance for gene: TTPA was changed from to BIALLELIC, autosomal or pseudoautosomal
05 Jun 2019	Hereditary neuropathy v1.96	SURF1	Louise Daugherty Phenotypes for gene: SURF1 were changed from 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 Jun 2019	Hereditary neuropathy v1.95	SURF1	Louise Daugherty Mode of inheritance for gene: SURF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
05 Jun 2019	Hereditary neuropathy v1.94	SPG7	Louise Daugherty Phenotypes for gene: SPG7 were changed from Hereditary Neuropathies to Hereditary Neuropathies; Spastic paraplegia, optic atrophy, ataxia and sensory-motor axonal neuropathy in some patients
05 Jun 2019	Hereditary neuropathy v1.93	SPG7	Louise Daugherty Mode of inheritance for gene: SPG7 was changed from to BIALLELIC, autosomal or pseudoautosomal
05 Jun 2019	Hereditary neuropathy v1.92	SPAST	Louise Daugherty Phenotypes for gene: SPAST were changed from Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant to Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant; Spasticity
05 Jun 2019	Hereditary neuropathy v1.91	SPAST	Louise Daugherty Publications for gene: SPAST were set to
05 Jun 2019	Hereditary neuropathy v1.90	SOX10	Louise Daugherty Phenotypes for gene: SOX10 were changed from Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 to Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease
05 Jun 2019	Hereditary neuropathy v1.89	PTPN11	Louise Daugherty Phenotypes for gene: PTPN11 were changed from Cardiomyopathy to Cardiomyopathy; Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus
05 Jun 2019	Hereditary neuropathy v1.88	PTPN11	Louise Daugherty Publications for gene: PTPN11 were set to
05 Jun 2019	Hereditary neuropathy v1.87	PTPN11	Louise Daugherty Mode of inheritance for gene: PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Jun 2019	Hereditary neuropathy v1.86	MTTP	Louise Daugherty Publications for gene: MTTP were set to
05 Jun 2019	Hereditary neuropathy v1.85	DNAJB2	Louise Daugherty Mode of inheritance for gene: DNAJB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
05 Jun 2019	Hereditary neuropathy v1.84	PNPLA6	Louise Daugherty Phenotypes for gene: PNPLA6 were changed from Hereditary Neuropathies to Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia; progressive distal motor neuropathy beginning in early through late adolescence
05 Jun 2019	Hereditary neuropathy v1.83	PNPLA6	Louise Daugherty Publications for gene: PNPLA6 were set to
05 Jun 2019	Hereditary neuropathy v1.82	PNPLA6	Louise Daugherty Mode of inheritance for gene: PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
04 Jun 2019	Hereditary neuropathy v1.81	SPG11	Alexander Rossor edited their review of gene: SPG11: Changed rating: GREEN; Changed publications: 26556829; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Jun 2019	Hereditary neuropathy v1.81	SPG11	Alexander Rossor Deleted their comment
04 Jun 2019	Hereditary neuropathy v1.81	SPAST	Alexander Rossor edited their review of gene: SPAST: Added comment: Peripheral neuropathy in > unrelated individuals in above case series; Changed rating: GREEN; Changed publications: 28572275; Changed phenotypes: spasticity; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Jun 2019	Hereditary neuropathy v1.81	SPAST	Alexander Rossor Deleted their comment
02 Jun 2019	Hereditary neuropathy v1.81	ZFYVE26	Alexander Rossor edited their review of gene: ZFYVE26: Changed rating: GREEN; Changed phenotypes: 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; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Jun 2019	Hereditary neuropathy v1.81	ZFYVE26	Alexander Rossor Deleted their comment
02 Jun 2019	Hereditary neuropathy v1.81	TWNK	Alexander Rossor edited their review of gene: TWNK: Changed rating: GREEN; Changed phenotypes: Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Jun 2019	Hereditary neuropathy v1.81	TTPA	Alexander Rossor edited their review of gene: TTPA: Changed rating: GREEN; Changed phenotypes: Early onset ataxia and sensory axonal neuropathy similar to Friedreich ataxia, head titubation, normal fat absorption unlike abetalipoproteinaemia, rarely retinitis pigmentosa; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Jun 2019	Hereditary neuropathy v1.81	SURF1	Alexander Rossor reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Jun 2019	Hereditary neuropathy v1.81	SPG7	Alexander Rossor Deleted their comment
02 Jun 2019	Hereditary neuropathy v1.81	SPG7	Alexander Rossor edited their review of gene: SPG7: Changed rating: GREEN; Changed phenotypes: Spastic paraplegia, optic atrophy, ataxia and sensory-motor axonal neuropathy in some patients; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Jun 2019	Hereditary neuropathy v1.81	SOX10	Alexander Rossor edited their review of gene: SOX10: Changed rating: GREEN; Changed phenotypes: Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Jun 2019	Hereditary neuropathy v1.81	PTPN11	Alexander Rossor reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: None; Publications: 26952712, 26337637, 25884655; Phenotypes: Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
02 Jun 2019	Hereditary neuropathy v1.81	PTPN11	Alexander Rossor Deleted their review
02 Jun 2019	Hereditary neuropathy v1.81	PRKCG	Alexander Rossor edited their review of gene: PRKCG: Added comment: Peripheral neuopathy to date only reported in a single case; Changed rating: AMBER; Changed publications: 29603387; Changed phenotypes: 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.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
02 Jun 2019	Hereditary neuropathy v1.81	PNPLA6	Alexander Rossor edited their review of gene: PNPLA6: Added comment: Complex phenotype with neuropathy (>3 families); Changed rating: GREEN; Changed publications: 24355708; Changed phenotypes: Childhood onset of slowly progressive spastic paraplegia, progressive distal motor neuropathy beginning in early through late adolescence; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Jun 2019	Hereditary neuropathy v1.81	PNPLA6	Alexander Rossor Deleted their comment
02 Jun 2019	Hereditary neuropathy v1.81	HADHB	Alexander Rossor edited their review of gene: HADHB: Added comment: Trifunctional protein deficiency, causes a neuropathy as part of multisystem disease; Changed rating: GREEN
02 Jun 2019	Hereditary neuropathy v1.81	HADHA	Alexander Rossor edited their review of gene: HADHA: Added comment: Trifunctional protein deficiency, causes a neuropathy as part of multisystem disease; Changed rating: GREEN
20 May 2019	Hereditary neuropathy v1.81	AR_CAG	Alexander Rossor STR: Kennedy's disease was added STR: Kennedy's disease was added to Hereditary neuropathy. Sources: Expert list Mode of inheritance for STR: Kennedy's disease was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Penetrance for STR: Kennedy's disease were set to Complete Review for STR: Kennedy's disease was set to GREEN STR: Kennedy's disease was marked as current diagnostic Added comment: Motor axonal neuropathy Sources: Expert list
20 May 2019	Hereditary neuropathy v1.81	FXTS	Alexander Rossor STR: FXTS was added STR: FXTS was added to Hereditary neuropathy. Sources: Expert list Mode of inheritance for STR: FXTS 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: FXTS were set to 25388402 Phenotypes for STR: FXTS were set to Ataxia; tremor; sensory axonal neuropathy Review for STR: FXTS was set to GREEN Added comment: Causes late onset sensory axonal neuropathy and ataxia Sources: Expert list
20 May 2019	Hereditary neuropathy v1.81	MTTP	Alexander Rossor edited their review of gene: MTTP: Added comment: Causes a progressive sensory neuropathy related to vitamin E deficiency as part of a complex multisystem disorder; Changed rating: GREEN; Changed publications: 2991816
16 May 2019	Hereditary neuropathy v1.81	MYH14	Alexander Rossor edited their review of gene: MYH14: Added comment: 2 large families with novel mutation (not on GNOMAD). Both deafness and neuropathy. Gene already on deafness panel; Changed rating: GREEN
16 May 2019	Hereditary neuropathy v1.81	PLP1	Alexander Rossor edited their review of gene: PLP1: Added comment: Null mutations cause a neuropathy; Changed rating: GREEN; 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)
16 May 2019	Hereditary neuropathy v1.81	PDK3	Alexander Rossor edited their review of gene: PDK3: Added comment: Now 2 families, likely pathogenic; Changed rating: AMBER
16 May 2019	Hereditary neuropathy v1.81	FBXO38	Alexander Rossor edited their review of gene: FBXO38: Added comment: 2 families but functional work not strong; Changed rating: AMBER
16 May 2019	Hereditary neuropathy v1.81	DST	Alexander Rossor edited their review of gene: DST: Added comment: 3 families, mouse model; Changed rating: GREEN
16 May 2019	Hereditary neuropathy v1.81	DRP2	Alexander Rossor edited their review of gene: DRP2: Added comment: 2 families with functional evidence; Changed rating: GREEN
16 May 2019	Hereditary neuropathy v1.81	ATL3	Alexander Rossor reviewed gene: ATL3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 May 2019	Hereditary neuropathy v1.81	ATL3	Alexander Rossor Deleted their review
14 May 2019	Hereditary neuropathy v1.81	GNB4	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.81	VRK1	Louise Daugherty Classified gene: VRK1 as Amber List (moderate evidence)
14 May 2019	Hereditary neuropathy v1.81	VRK1	Louise Daugherty Added comment: Comment on list classification: New gene added after analysis. To be reviewed by Neurology Test group 17th May 2019
14 May 2019	Hereditary neuropathy v1.81	VRK1	Louise Daugherty Gene: vrk1 has been classified as Amber List (Moderate Evidence).
14 May 2019	Hereditary neuropathy v1.80	YARS	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	WNK1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	VCP	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	TYMP	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	TUBB3	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	TTR	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	TRPV4	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	TFG	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SPTLC2	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SPTLC1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SPG11	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SPAST	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SMN1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SLC52A3	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SLC52A2	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SLC12A6	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SIGMAR1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SH3TC2	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SETX	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SEPT9	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SCN9A	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SCN11A	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SBF2	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	SACS	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	RETREG1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	REEP1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	RAB7A	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	PRX	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	PRPS1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	PRNP	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	PRDM12	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	POLG	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	PMP22	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	PLEKHG5	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	PHYH	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	PEX7	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	PDHA1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	NTRK1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	NGF	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	NEFL	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	NDRG1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	MTMR2	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	MT-ATP6	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	MPZ	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	MPV17	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	MORC2	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	MME	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	MFN2	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	LRSAM1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	LMNA	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	LITAF	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	KIF5A	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	KIF1A	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	INF2	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	IGHMBP2	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	HSPB8	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	HSPB1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	HK1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	HINT1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	HARS	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	GLA	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	GJB1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	GDAP1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	GARS	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	GAN	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	FIG4	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	FGD4	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	FBLN5	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	ELP1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	EGR2	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	DNMT1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	DNM2	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	COX6A1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	CHCHD10	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	C12orf65	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	BSCL2	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	BICD2	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	ATP7A	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	ATM	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	ATL3	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	ATL1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	ARHGEF10	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	APTX	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	AIFM1	Louise Daugherty Deleted their comment
14 May 2019	Hereditary neuropathy v1.80	AARS	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	VRK1	Alexander Rossor gene: VRK1 was added gene: VRK1 was added to Hereditary neuropathy. Sources: 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 Penetrance for gene: VRK1 were set to Complete Review for gene: VRK1 was set to GREEN Added comment: Reported in at least 2 published and mor eunpublished cases Sources: Expert list
10 May 2019	Hereditary neuropathy v1.80	PMP2	Alexander Rossor reviewed gene: PMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
10 May 2019	Hereditary neuropathy v1.80	CNTNAP1	Alexander Rossor reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
10 May 2019	Hereditary neuropathy v1.80	ATP1A1	Alexander Rossor reviewed gene: ATP1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
10 May 2019	Hereditary neuropathy v1.80	ARHGEF10	Alexander Rossor reviewed gene: ARHGEF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
10 May 2019	Hereditary neuropathy v1.80	ARHGEF10	Alexander Rossor Deleted their review
10 May 2019	Hereditary neuropathy v1.80	SURF1	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	SLC5A7	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	SLC52A1	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	SCN10A	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	SBF1	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	PMP2	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	NEFH	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	MCM3AP	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	MARS	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	HSPB3	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	FXN	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	FBXO38	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	DNAJB2	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	DCTN1	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	CNTNAP1	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	CCT5	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	ATP1A1	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	SYT2	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	WARS	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	TRPA1	Louise Daugherty Deleted their comment
10 May 2019	Hereditary neuropathy v1.80	TRIM2	Louise Daugherty Deleted their comment
09 May 2019	Hereditary neuropathy v1.80	YARS	Louise Daugherty commented on gene: YARS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	WNK1	Louise Daugherty commented on gene: WNK1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	WARS	Louise Daugherty commented on gene: WARS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	VCP	Louise Daugherty commented on gene: VCP: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	TYMP	Louise Daugherty commented on gene: TYMP: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	TUBB3	Louise Daugherty commented on gene: TUBB3: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	TTR	Louise Daugherty commented on gene: TTR: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	TRPV4	Louise Daugherty commented on gene: TRPV4: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	TRPA1	Louise Daugherty commented on gene: TRPA1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	TRIM2	Louise Daugherty commented on gene: TRIM2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	TFG	Louise Daugherty commented on gene: TFG: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SYT2	Louise Daugherty commented on gene: SYT2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SURF1	Louise Daugherty commented on gene: SURF1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SPTLC2	Louise Daugherty commented on gene: SPTLC2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SPTLC1	Louise Daugherty commented on gene: SPTLC1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SPG11	Louise Daugherty commented on gene: SPG11: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SPAST	Louise Daugherty commented on gene: SPAST: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SMN1	Louise Daugherty commented on gene: SMN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SLC5A7	Louise Daugherty commented on gene: SLC5A7: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SLC52A3	Louise Daugherty commented on gene: SLC52A3: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SLC52A2	Louise Daugherty commented on gene: SLC52A2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SLC52A1	Louise Daugherty commented on gene: SLC52A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SLC12A6	Louise Daugherty commented on gene: SLC12A6: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SIGMAR1	Louise Daugherty commented on gene: SIGMAR1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SH3TC2	Louise Daugherty commented on gene: SH3TC2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SETX	Louise Daugherty commented on gene: SETX: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SEPT9	Louise Daugherty commented on gene: SEPT9: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SCN9A	Louise Daugherty commented on gene: SCN9A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SCN11A	Louise Daugherty commented on gene: SCN11A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SCN10A	Louise Daugherty commented on gene: SCN10A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SBF2	Louise Daugherty commented on gene: SBF2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SBF1	Louise Daugherty commented on gene: SBF1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	SACS	Louise Daugherty commented on gene: SACS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	RETREG1	Louise Daugherty commented on gene: RETREG1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	REEP1	Louise Daugherty commented on gene: REEP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	RAB7A	Louise Daugherty commented on gene: RAB7A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	PRX	Louise Daugherty commented on gene: PRX: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	PRPS1	Louise Daugherty commented on gene: PRPS1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	PRNP	Louise Daugherty commented on gene: PRNP: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	PRDM12	Louise Daugherty commented on gene: PRDM12: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	POLG	Louise Daugherty commented on gene: POLG: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	PMP22	Louise Daugherty commented on gene: PMP22: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	PMP2	Louise Daugherty commented on gene: PMP2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	PLEKHG5	Louise Daugherty commented on gene: PLEKHG5: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	PHYH	Louise Daugherty commented on gene: PHYH: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	PEX7	Louise Daugherty commented on gene: PEX7: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	PDHA1	Louise Daugherty commented on gene: PDHA1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	NTRK1	Louise Daugherty commented on gene: NTRK1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	NGF	Louise Daugherty commented on gene: NGF: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	NEFL	Louise Daugherty commented on gene: NEFL: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	NEFH	Louise Daugherty commented on gene: NEFH: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	NDRG1	Louise Daugherty commented on gene: NDRG1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	MTMR2	Louise Daugherty commented on gene: MTMR2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	MT-ATP6	Louise Daugherty commented on gene: MT-ATP6: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	MPZ	Louise Daugherty commented on gene: MPZ: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	MPV17	Louise Daugherty commented on gene: MPV17: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	MORC2	Louise Daugherty commented on gene: MORC2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	MME	Louise Daugherty commented on gene: MME: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	MFN2	Louise Daugherty commented on gene: MFN2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	MCM3AP	Louise Daugherty commented on gene: MCM3AP: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	MARS	Louise Daugherty commented on gene: MARS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	LRSAM1	Louise Daugherty commented on gene: LRSAM1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	LMNA	Louise Daugherty commented on gene: LMNA: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	LITAF	Louise Daugherty commented on gene: LITAF: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	KIF5A	Louise Daugherty commented on gene: KIF5A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	KIF1A	Louise Daugherty commented on gene: KIF1A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	INF2	Louise Daugherty commented on gene: INF2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	IGHMBP2	Louise Daugherty commented on gene: IGHMBP2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	HSPB8	Louise Daugherty commented on gene: HSPB8: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	HSPB3	Louise Daugherty commented on gene: HSPB3: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	HSPB1	Louise Daugherty commented on gene: HSPB1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	HK1	Louise Daugherty commented on gene: HK1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	HINT1	Louise Daugherty commented on gene: HINT1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	HARS	Louise Daugherty commented on gene: HARS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	GNB4	Louise Daugherty commented on gene: GNB4: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	GLA	Louise Daugherty commented on gene: GLA: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	GJB1	Louise Daugherty commented on gene: GJB1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	GDAP1	Louise Daugherty commented on gene: GDAP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	GARS	Louise Daugherty commented on gene: GARS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	GAN	Louise Daugherty commented on gene: GAN: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	FXN	Louise Daugherty commented on gene: FXN: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	FIG4	Louise Daugherty commented on gene: FIG4: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	FGD4	Louise Daugherty commented on gene: FGD4: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	FBXO38	Louise Daugherty commented on gene: FBXO38: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	FBLN5	Louise Daugherty commented on gene: FBLN5: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	ELP1	Louise Daugherty commented on gene: ELP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	EGR2	Louise Daugherty commented on gene: EGR2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	DYNC1H1	Louise Daugherty commented on gene: DYNC1H1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	DNMT1	Louise Daugherty commented on gene: DNMT1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	DNM2	Louise Daugherty commented on gene: DNM2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	DNAJB2	Louise Daugherty commented on gene: DNAJB2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	DCTN1	Louise Daugherty commented on gene: DCTN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	COX6A1	Louise Daugherty commented on gene: COX6A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	CNTNAP1	Louise Daugherty commented on gene: CNTNAP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	CHCHD10	Louise Daugherty commented on gene: CHCHD10: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	CCT5	Louise Daugherty commented on gene: CCT5: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	C12orf65	Louise Daugherty commented on gene: C12orf65: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	BSCL2	Louise Daugherty commented on gene: BSCL2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	BICD2	Louise Daugherty commented on gene: BICD2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	ATP7A	Louise Daugherty commented on gene: ATP7A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	ATP1A1	Louise Daugherty commented on gene: ATP1A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	ATM	Louise Daugherty commented on gene: ATM: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	ATL3	Louise Daugherty commented on gene: ATL3: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	ATL1	Louise Daugherty commented on gene: ATL1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	ARHGEF10	Louise Daugherty commented on gene: ARHGEF10: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	APTX	Louise Daugherty commented on gene: APTX: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	AIFM1	Louise Daugherty commented on gene: AIFM1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.80	AARS	Louise Daugherty commented on gene: AARS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
09 May 2019	Hereditary neuropathy v1.79	WARS	Alexander Rossor reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
09 May 2019	Hereditary neuropathy v1.79	SLC5A7	Alexander Rossor commented on gene: SLC5A7: Additional families now described with very tight phenotype
09 May 2019	Hereditary neuropathy v1.79	NEFH	Alexander Rossor reviewed gene: NEFH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
09 May 2019	Hereditary neuropathy v1.79	MCM3AP	Alexander Rossor reviewed gene: MCM3AP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
09 May 2019	Hereditary neuropathy v1.79	FXN	Alexander Rossor edited their review of gene: FXN: Added comment: Causes a neuropathy with ataxia; Changed rating: GREEN
09 May 2019	Hereditary neuropathy v1.79	DNAJB2	Alexander Rossor commented on gene: DNAJB2: Now reported in multiple series form different countries
09 May 2019	Hereditary neuropathy v1.79	DCTN1	Alexander Rossor reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
09 May 2019	Hereditary neuropathy v1.79	DCTN1	Alexander Rossor Deleted their review
09 May 2019	Hereditary neuropathy v1.79	DCTN1	Alexander Rossor Deleted their comment
09 May 2019	Hereditary neuropathy v1.79	CRYAB	Alexander Rossor commented on gene: CRYAB
09 May 2019	Hereditary neuropathy v1.79	CRYAB	Alexander Rossor Deleted their review
09 May 2019	Hereditary neuropathy v1.79	VCP	Alexander Rossor commented on gene: VCP
09 May 2019	Hereditary neuropathy v1.79	VCP	Alexander Rossor Deleted their review
07 May 2019	Hereditary neuropathy v1.79	SEPT9	Louise Daugherty Tag new-gene-name tag was added to gene: SEPT9.
07 May 2019	Hereditary neuropathy v1.79	SEPT9	Louise Daugherty commented on gene: SEPT9: Added new-gene-name tag, new approved HGNC gene symbol for SEPT9 is SEPTIN9
03 May 2019	Hereditary neuropathy v1.79	DCTN1	Louise Daugherty Phenotypes for gene: DCTN1 were changed from {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641; Perry syndrome 168605 to {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641; Perry syndrome, 168605
29 Apr 2019	Hereditary neuropathy v1.78	DNMT1	Louise Daugherty Phenotypes for gene: DNMT1 were changed from Neuropathy, hereditary sensory, type IE, 614116; other; Neuropathy, hereditary sensory, type IE, 614116; Dementia, Deafness, and Sensory Neuropathy to Neuropathy, hereditary sensory, type IE, 614116; Neuropathy, hereditary sensory, type IE, 614116; Dementia, Deafness, and Sensory Neuropathy
29 Apr 2019	Hereditary neuropathy v1.77	EGR2	Louise Daugherty Phenotypes for gene: EGR2 were changed from Charcot Marie Tooth disease, type 1D, 607678; Charcot-Marie-Tooth, Type 1 to Charcot Marie Tooth disease, type 1D, 607678; Charcot-Marie-Tooth, Type 1
29 Apr 2019	Hereditary neuropathy v1.76	EGR2	Louise Daugherty Phenotypes for gene: EGR2 were changed from Charcot Marie Tooth disease, type 1D, 607678; Charcot-Marie-Tooth, Type 1 ; Charcot-Marie-Tooth, Type 1; others to Charcot Marie Tooth disease, type 1D, 607678; Charcot-Marie-Tooth, Type 1
29 Apr 2019	Hereditary neuropathy v1.75	DST	Louise Daugherty Phenotypes for gene: DST were changed from Hereditary Sensory and Autonomic Neuropathy, Type VI; others; ?Neuropathy, hereditary sensory and autonomic, type VI; Neuropathy, hereditary sensory and autonomic, type VI, 614653 to Hereditary Sensory and Autonomic Neuropathy, Type VI; ?Neuropathy, hereditary sensory and autonomic, type VI
29 Apr 2019	Hereditary neuropathy v1.74	ATL1	Louise Daugherty Phenotypes for gene: ATL1 were changed from other; Neuropathy, hereditary sensory, type ID, 613708 to Neuropathy, hereditary sensory, type ID, 613708
29 Apr 2019	Hereditary neuropathy v1.73	DNMT1	Louise Daugherty Phenotypes for gene: DNMT1 were changed from other; Dementia, Deafness, and Sensory Neuropathy; Neuropathy, hereditary sensory, type IE, 614116; other; Dementia, Deafness, and Sensory Neuropathy ; Neuropathy, hereditary sensory, type IE, 614116 to Neuropathy, hereditary sensory, type IE, 614116; other; Neuropathy, hereditary sensory, type IE, 614116; Dementia, Deafness, and Sensory Neuropathy
29 Apr 2019	Hereditary neuropathy v1.72	DYNC1H1	Louise Daugherty Phenotypes for gene: DYNC1H1 were changed from Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600 to Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600
29 Apr 2019	Hereditary neuropathy v1.71	DYNC1H1	Louise Daugherty Phenotypes for gene: DYNC1H1 were changed from Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600; others to Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600
29 Apr 2019	Hereditary neuropathy v1.70	TRPV4	Louise Daugherty Phenotypes for gene: TRPV4 were changed from Hereditary motor and sensory neuropathy, type IIc, 606071 to Hereditary motor and sensory neuropathy, type IIc, 606071
29 Apr 2019	Hereditary neuropathy v1.69	DHTKD1	Louise Daugherty Phenotypes for gene: DHTKD1 were changed from Charcot Marie Tooth disease, axonal, type 2Q, 615025; other; 2 aminoadipic 2 oxoadipic aciduria, 204750; 2 aminoadipic 2 oxoadipic aciduria, 204750 to Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750; 2 aminoadipic 2 oxoadipic aciduria, 204750
29 Apr 2019	Hereditary neuropathy v1.68	INF2	Louise Daugherty Phenotypes for gene: INF2 were changed from Charcot Marie Tooth disease, dominant intermediate E, 614455; other to Charcot Marie Tooth disease, dominant intermediate E, 614455
29 Apr 2019	Hereditary neuropathy v1.67	KIF1A	Louise Daugherty Phenotypes for gene: KIF1A were changed from Neuropathy, hereditary sensory, type IIC, 614213; others; Hereditary Sensory and Autonomic Neuropathy, Type II to Neuropathy, hereditary sensory, type IIC, 614213; Hereditary Sensory and Autonomic Neuropathy, Type II
29 Apr 2019	Hereditary neuropathy v1.66	MFN2	Louise Daugherty Deleted their comment
29 Apr 2019	Hereditary neuropathy v1.66	MFN2	Louise Daugherty Added comment: Comment on phenotypes: Charcot-Marie-Tooth, Type 2 (Dominant);MFN2 axonal neuropathy;MFN2 axonal neuropathy ;Charcot-Marie-Tooth, Type 2 (Dominant);Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152;Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive);Hereditary Motor and Sensory Neuropathy (Recessive)
29 Apr 2019	Hereditary neuropathy v1.66	MFN2	Louise Daugherty Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth, Type 2 (Dominant); MFN2 axonal neuropathy; other; other; MFN2 axonal neuropathy ; Charcot-Marie-Tooth, Type 2 (Dominant); Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive); Hereditary Motor and Sensory Neuropathy (Recessive) to Charcot-Marie-Tooth, Type 2 (Dominant); MFN2 axonal neuropathy; MFN2 axonal neuropathy; Charcot-Marie-Tooth, Type 2 (Dominant); Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive); Hereditary Motor and Sensory Neuropathy (Recessive)
29 Apr 2019	Hereditary neuropathy v1.65	MME	Louise Daugherty Phenotypes for gene: MME were changed from Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease, axonal, type 2T, 617017 to Charcot-Marie-Tooth disease, axonal, type 2T, 617017
29 Apr 2019	Hereditary neuropathy v1.64	TRPV4	Louise Daugherty Phenotypes for gene: TRPV4 were changed from Hereditary motor and sensory neuropathy, type IIc, 606071; other disorders; other disorders; others to Hereditary motor and sensory neuropathy, type IIc, 606071
29 Apr 2019	Hereditary neuropathy v1.63	ZFYVE27	Louise Daugherty reviewed gene: ZFYVE27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	ZFYVE26	Louise Daugherty reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	YARS	Louise Daugherty commented on gene: YARS: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	WNK1	Louise Daugherty commented on gene: WNK1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	WASHC5	Louise Daugherty edited their review of gene: WASHC5: Added comment: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
29 Apr 2019	Hereditary neuropathy v1.63	VCL	Louise Daugherty reviewed gene: VCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	TWNK	Louise Daugherty edited their review of gene: TWNK: Added comment: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
29 Apr 2019	Hereditary neuropathy v1.63	TTPA	Louise Daugherty reviewed gene: TTPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	TTN	Louise Daugherty reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	TTBK2	Louise Daugherty reviewed gene: TTBK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	TRPV4	Louise Daugherty commented on gene: TRPV4: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	TRIM2	Louise Daugherty commented on gene: TRIM2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	TPM1	Louise Daugherty reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	TNNT2	Louise Daugherty reviewed gene: TNNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	TNNI3	Louise Daugherty reviewed gene: TNNI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	TNNC1	Louise Daugherty reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	TMEM43	Louise Daugherty reviewed gene: TMEM43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	TDP1	Louise Daugherty reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	TCAP	Louise Daugherty reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	TAZ	Louise Daugherty reviewed gene: TAZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	SYT2	Louise Daugherty commented on gene: SYT2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	SPTLC2	Louise Daugherty commented on gene: SPTLC2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	SPTLC1	Louise Daugherty commented on gene: SPTLC1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	SPTBN2	Louise Daugherty reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	SPG7	Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	SPG21	Louise Daugherty reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	SPART	Louise Daugherty edited their review of gene: SPART: Added comment: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
29 Apr 2019	Hereditary neuropathy v1.63	SOX10	Louise Daugherty reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	SOS1	Louise Daugherty reviewed gene: SOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	SLC5A7	Louise Daugherty commented on gene: SLC5A7: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	SLC52A1	Louise Daugherty commented on gene: SLC52A1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	SLC1A3	Louise Daugherty reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	SLC12A6	Louise Daugherty commented on gene: SLC12A6: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	SIL1	Louise Daugherty reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	SH3TC2	Louise Daugherty commented on gene: SH3TC2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	SGCD	Louise Daugherty reviewed gene: SGCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	SEPT9	Louise Daugherty commented on gene: SEPT9: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	SCN9A	Louise Daugherty commented on gene: SCN9A: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	SCN5A	Louise Daugherty reviewed gene: SCN5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	SBF2	Louise Daugherty commented on gene: SBF2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	SBF1	Louise Daugherty commented on gene: SBF1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	RYR2	Louise Daugherty reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	RIT1	Louise Daugherty reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	RETREG1	Louise Daugherty commented on gene: RETREG1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	REEP1	Louise Daugherty commented on gene: REEP1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	RBM20	Louise Daugherty reviewed gene: RBM20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	RAF1	Louise Daugherty reviewed gene: RAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	RAB7A	Louise Daugherty commented on gene: RAB7A: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	PTPN11	Louise Daugherty reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	PRX	Louise Daugherty commented on gene: PRX: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	PRPS1	Louise Daugherty commented on gene: PRPS1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	PRKCG	Louise Daugherty reviewed gene: PRKCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	PRKAG2	Louise Daugherty reviewed gene: PRKAG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	PNPLA6	Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	PMP22	Louise Daugherty commented on gene: PMP22: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	PLP1	Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	PLN	Louise Daugherty reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	PLEKHG5	Louise Daugherty commented on gene: PLEKHG5: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	PKP2	Louise Daugherty reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	PDLIM3	Louise Daugherty reviewed gene: PDLIM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	PDK3	Louise Daugherty reviewed gene: PDK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	NTRK1	Louise Daugherty commented on gene: NTRK1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	NRAS	Louise Daugherty reviewed gene: NRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	NIPA1	Louise Daugherty reviewed gene: NIPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	NGF	Louise Daugherty commented on gene: NGF: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	NEXN	Louise Daugherty reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	NEFL	Louise Daugherty commented on gene: NEFL: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	NEBL	Louise Daugherty reviewed gene: NEBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	NDRG1	Louise Daugherty commented on gene: NDRG1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	NAGLU	Louise Daugherty reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	MYPN	Louise Daugherty reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	MYOZ2	Louise Daugherty reviewed gene: MYOZ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	MYL3	Louise Daugherty reviewed gene: MYL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	MYL2	Louise Daugherty reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	MYH7	Louise Daugherty reviewed gene: MYH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	MYH6	Louise Daugherty reviewed gene: MYH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	MYH14	Louise Daugherty reviewed gene: MYH14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	MYBPC3	Louise Daugherty reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	MTTP	Louise Daugherty reviewed gene: MTTP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	MTMR2	Louise Daugherty commented on gene: MTMR2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	MRE11	Louise Daugherty edited their review of gene: MRE11: Added comment: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
29 Apr 2019	Hereditary neuropathy v1.63	MPZ	Louise Daugherty commented on gene: MPZ: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	MORC2	Louise Daugherty commented on gene: MORC2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	MFN2	Louise Daugherty commented on gene: MFN2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	MED25	Louise Daugherty reviewed gene: MED25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	MARS	Louise Daugherty commented on gene: MARS: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	MAP2K2	Louise Daugherty reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	MAP2K1	Louise Daugherty reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	LRSAM1	Louise Daugherty commented on gene: LRSAM1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	LMNA	Louise Daugherty commented on gene: LMNA: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	LITAF	Louise Daugherty commented on gene: LITAF: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	LDB3	Louise Daugherty reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	LAS1L	Louise Daugherty reviewed gene: LAS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	LAMP2	Louise Daugherty reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	LAMA4	Louise Daugherty reviewed gene: LAMA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	L1CAM	Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	KRAS	Louise Daugherty reviewed gene: KRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	KIF1B	Louise Daugherty reviewed gene: KIF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	KCNC3	Louise Daugherty reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	KCNA1	Louise Daugherty reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	KARS	Louise Daugherty reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	JUP	Louise Daugherty reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	JPH2	Louise Daugherty reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	ITPR1	Louise Daugherty reviewed gene: ITPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	IGHMBP2	Louise Daugherty commented on gene: IGHMBP2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	HSPB8	Louise Daugherty commented on gene: HSPB8: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	HSPB3	Louise Daugherty commented on gene: HSPB3: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	HSPB1	Louise Daugherty commented on gene: HSPB1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	HRAS	Louise Daugherty reviewed gene: HRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	HOXD10	Louise Daugherty reviewed gene: HOXD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	HADHB	Louise Daugherty reviewed gene: HADHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	HADHA	Louise Daugherty reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	GNB4	Louise Daugherty commented on gene: GNB4: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	GJB1	Louise Daugherty commented on gene: GJB1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	GDAP1	Louise Daugherty commented on gene: GDAP1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	GATAD1	Louise Daugherty reviewed gene: GATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	GARS	Louise Daugherty commented on gene: GARS: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	GAN	Louise Daugherty commented on gene: GAN: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	GAA	Louise Daugherty reviewed gene: GAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	FXN	Louise Daugherty commented on gene: FXN: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	FKTN	Louise Daugherty reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	FIG4	Louise Daugherty commented on gene: FIG4: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	FGF14	Louise Daugherty reviewed gene: FGF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	FGD4	Louise Daugherty commented on gene: FGD4: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	FBXO38	Louise Daugherty commented on gene: FBXO38: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	EMD	Louise Daugherty reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	ELP1	Louise Daugherty commented on gene: ELP1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	EGR2	Louise Daugherty commented on gene: EGR2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	DYNC1H1	Louise Daugherty commented on gene: DYNC1H1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	DTNA	Louise Daugherty reviewed gene: DTNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	DST	Louise Daugherty reviewed gene: DST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	DSP	Louise Daugherty reviewed gene: DSP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	DSG2	Louise Daugherty reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	DSC2	Louise Daugherty reviewed gene: DSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	DRP2	Louise Daugherty reviewed gene: DRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	DNMT1	Louise Daugherty commented on gene: DNMT1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	DNM2	Louise Daugherty commented on gene: DNM2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	DNAJB2	Louise Daugherty commented on gene: DNAJB2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	DMD	Louise Daugherty reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	DHTKD1	Louise Daugherty reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	DHH	Louise Daugherty reviewed gene: DHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	DES	Louise Daugherty reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	DCTN1	Louise Daugherty commented on gene: DCTN1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	DCAF8	Louise Daugherty reviewed gene: DCAF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	CTDP1	Louise Daugherty reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	CSRP3	Louise Daugherty reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	CRYAB	Louise Daugherty reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	COX6A1	Louise Daugherty commented on gene: COX6A1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	COQ8A	Louise Daugherty edited their review of gene: COQ8A: Added comment: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
29 Apr 2019	Hereditary neuropathy v1.63	CLTCL1	Louise Daugherty reviewed gene: CLTCL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	CHCHD10	Louise Daugherty commented on gene: CHCHD10: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	CCT5	Louise Daugherty commented on gene: CCT5: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	CAV3	Louise Daugherty reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	CASQ2	Louise Daugherty reviewed gene: CASQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	CACNB4	Louise Daugherty reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	C12orf65	Louise Daugherty commented on gene: C12orf65: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	BSCL2	Louise Daugherty commented on gene: BSCL2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	BRAF	Louise Daugherty reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	BICD2	Louise Daugherty commented on gene: BICD2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	BAG3	Louise Daugherty reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	ATP7A	Louise Daugherty commented on gene: ATP7A: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	ATM	Louise Daugherty commented on gene: ATM: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	ATL3	Louise Daugherty commented on gene: ATL3: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	ATL1	Louise Daugherty commented on gene: ATL1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	ARHGEF10	Louise Daugherty commented on gene: ARHGEF10: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	APTX	Louise Daugherty commented on gene: APTX: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	ANKRD1	Louise Daugherty reviewed gene: ANKRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	ALDH3A2	Louise Daugherty reviewed gene: ALDH3A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	AIFM1	Louise Daugherty commented on gene: AIFM1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.63	ACTN2	Louise Daugherty reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	ACTC1	Louise Daugherty reviewed gene: ACTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	ABCC9	Louise Daugherty reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.63	AARS	Louise Daugherty commented on gene: AARS: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
29 Apr 2019	Hereditary neuropathy v1.62	SOX10	Louise Daugherty Mode of inheritance for gene: SOX10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
29 Apr 2019	Hereditary neuropathy v1.61	TDP1	Louise Daugherty Mode of inheritance for gene: TDP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
29 Apr 2019	Hereditary neuropathy v1.60	ZFYVE27	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: ZFYVE27
29 Apr 2019	Hereditary neuropathy v1.60	ZFYVE26	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: ZFYVE26
29 Apr 2019	Hereditary neuropathy v1.60	YARS	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, dominant intermediate C, 608323 for gene: YARS Publications for gene YARS were changed from to 16429158; 19561293
29 Apr 2019	Hereditary neuropathy v1.60	WNK1	Louise Daugherty Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II; Pseudohypoaldosteronism, type IIC, 614492; Neuropathy, hereditary sensory and autonomic, type II, 201300 for gene: WNK1 Publications for gene WNK1 were changed from to 15060842
29 Apr 2019	Hereditary neuropathy v1.60	WASHC5	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: WASHC5 Publications for gene WASHC5 were changed from to 27164712
29 Apr 2019	Hereditary neuropathy v1.60	VCL	Louise Daugherty Added phenotypes Cardiomyopathy for gene: VCL
29 Apr 2019	Hereditary neuropathy v1.60	TWNK	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: TWNK
29 Apr 2019	Hereditary neuropathy v1.60	TTPA	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: TTPA
29 Apr 2019	Hereditary neuropathy v1.60	TTN	Louise Daugherty Added phenotypes Cardiomyopathy for gene: TTN
29 Apr 2019	Hereditary neuropathy v1.60	TTBK2	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: TTBK2
29 Apr 2019	Hereditary neuropathy v1.60	TRPV4	Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy, type IIc, 606071; other disorders for gene: TRPV4 Publications for gene TRPV4 were changed from 25900305; 26392352 to 20037586
29 Apr 2019	Hereditary neuropathy v1.60	TRIM2	Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2R, 615490 for gene: TRIM2 Publications for gene TRIM2 were changed from Charcot-Marie-Tooth disease, type 2R to 23562820; 25893792; 18687884
29 Apr 2019	Hereditary neuropathy v1.60	TPM1	Louise Daugherty Added phenotypes Cardiomyopathy for gene: TPM1
29 Apr 2019	Hereditary neuropathy v1.60	TNNT2	Louise Daugherty Added phenotypes Cardiomyopathy for gene: TNNT2
29 Apr 2019	Hereditary neuropathy v1.60	TNNI3	Louise Daugherty Added phenotypes Cardiomyopathy for gene: TNNI3
29 Apr 2019	Hereditary neuropathy v1.60	TNNC1	Louise Daugherty Added phenotypes Cardiomyopathy for gene: TNNC1
29 Apr 2019	Hereditary neuropathy v1.60	TMEM43	Louise Daugherty Added phenotypes Cardiomyopathy for gene: TMEM43
29 Apr 2019	Hereditary neuropathy v1.60	TDP1	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: TDP1 Publications for gene TDP1 were changed from to 12244316
29 Apr 2019	Hereditary neuropathy v1.60	TCAP	Louise Daugherty Added phenotypes Cardiomyopathy for gene: TCAP
29 Apr 2019	Hereditary neuropathy v1.60	TAZ	Louise Daugherty Added phenotypes Cardiomyopathy for gene: TAZ
29 Apr 2019	Hereditary neuropathy v1.60	SYT2	Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 7, presynaptic for gene: SYT2 Publications for gene SYT2 were changed from 25192047; 26519543 to 26519543; 30533528
29 Apr 2019	Hereditary neuropathy v1.60	SPTLC2	Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640; Hereditary Sensory and Autonomic Neuropathy, Type IC for gene: SPTLC2 Publications for gene SPTLC2 were changed from to 20920666
29 Apr 2019	Hereditary neuropathy v1.60	SPTLC1	Louise Daugherty Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IA, 162400 for gene: SPTLC1 Publications for gene SPTLC1 were changed from to 16216550; 20097765
29 Apr 2019	Hereditary neuropathy v1.60	SPTBN2	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SPTBN2 Publications for gene SPTBN2 were changed from to 28333917
29 Apr 2019	Hereditary neuropathy v1.60	SPG7	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SPG7
29 Apr 2019	Hereditary neuropathy v1.60	SPG21	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SPG21
29 Apr 2019	Hereditary neuropathy v1.60	SPART	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SPART
29 Apr 2019	Hereditary neuropathy v1.60	SOX10	Louise Daugherty Added phenotypes Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 for gene: SOX10 Publications for gene SOX10 were changed from to 21898658
29 Apr 2019	Hereditary neuropathy v1.60	SOS1	Louise Daugherty Added phenotypes Cardiomyopathy for gene: SOS1
29 Apr 2019	Hereditary neuropathy v1.60	SLC5A7	Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VIIA for gene: SLC5A7 Publications for gene SLC5A7 were changed from to 29782645; 23141292
29 Apr 2019	Hereditary neuropathy v1.60	SLC52A1	Louise Daugherty Added phenotypes dHMN; Riboflavin deficiency for gene: SLC52A1
29 Apr 2019	Hereditary neuropathy v1.60	SLC1A3	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SLC1A3
29 Apr 2019	Hereditary neuropathy v1.60	SLC12A6	Louise Daugherty Added phenotypes Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum for gene: SLC12A6 Publications for gene SLC12A6 were changed from to 12368912
29 Apr 2019	Hereditary neuropathy v1.60	SIL1	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SIL1
29 Apr 2019	Hereditary neuropathy v1.60	SH3TC2	Louise Daugherty Added phenotypes Mononeuropathy of the median nerve, mild, 613353; Charcot Marie Tooth disease, type 4C, 601596 for gene: SH3TC2 Publications for gene SH3TC2 were changed from to 19805030
29 Apr 2019	Hereditary neuropathy v1.60	SGCD	Louise Daugherty Added phenotypes Cardiomyopathy for gene: SGCD
29 Apr 2019	Hereditary neuropathy v1.60	SEPT9	Louise Daugherty Added phenotypes Amyotrophy, hereditary neuralgic; Neuralgic amyotrophy for gene: SEPT9 Publications for gene SEPT9 were changed from to 16186812; 19451530
29 Apr 2019	Hereditary neuropathy v1.60	SCN9A	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SCN9A Publications for gene SCN9A were changed from to 26392352
29 Apr 2019	Hereditary neuropathy v1.60	SCN5A	Louise Daugherty Added phenotypes Cardiomyopathy for gene: SCN5A
29 Apr 2019	Hereditary neuropathy v1.60	SBF2	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 4B2, 604563 for gene: SBF2 Publications for gene SBF2 were changed from to 17855448; 12554688
29 Apr 2019	Hereditary neuropathy v1.60	SBF1	Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B3, 615284 for gene: SBF1 Publications for gene SBF1 were changed from to 28005197; 23749797; 21210780; 24799518
29 Apr 2019	Hereditary neuropathy v1.60	RYR2	Louise Daugherty Added phenotypes Cardiomyopathy for gene: RYR2
29 Apr 2019	Hereditary neuropathy v1.60	RIT1	Louise Daugherty Added phenotypes Cardiomyopathy for gene: RIT1
29 Apr 2019	Hereditary neuropathy v1.60	RETREG1	Louise Daugherty Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IIB, 613115 for gene: RETREG1 Publications for gene RETREG1 were changed from PMID: 26392352 to 30373780; 19838196
29 Apr 2019	Hereditary neuropathy v1.60	REEP1	Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant 610250 for gene: REEP1 Publications for gene REEP1 were changed from to 19034539; 22703882
29 Apr 2019	Hereditary neuropathy v1.60	RBM20	Louise Daugherty Added phenotypes Cardiomyopathy for gene: RBM20
29 Apr 2019	Hereditary neuropathy v1.60	RAF1	Louise Daugherty Added phenotypes Cardiomyopathy for gene: RAF1
29 Apr 2019	Hereditary neuropathy v1.60	RAB7A	Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2B, 600882 for gene: RAB7A Publications for gene RAB7A were changed from to 26791407
29 Apr 2019	Hereditary neuropathy v1.60	PTPN11	Louise Daugherty Added phenotypes Cardiomyopathy for gene: PTPN11
29 Apr 2019	Hereditary neuropathy v1.60	PRX	Louise Daugherty Added phenotypes Dejerine Sottas disease, autosomal recessive, 145900; Charcot Marie Tooth disease, type 4F, 614895 for gene: PRX Publications for gene PRX were changed from to 11157804; 10848494
29 Apr 2019	Hereditary neuropathy v1.60	PRPS1	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, X linked recessive, 5, 311070 for gene: PRPS1 Publications for gene PRPS1 were changed from to 24285972; 17701900
29 Apr 2019	Hereditary neuropathy v1.60	PRKCG	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: PRKCG Publications for gene PRKCG were changed from to 26633542
29 Apr 2019	Hereditary neuropathy v1.60	PRKAG2	Louise Daugherty Added phenotypes Cardiomyopathy for gene: PRKAG2
29 Apr 2019	Hereditary neuropathy v1.60	PNPLA6	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: PNPLA6
29 Apr 2019	Hereditary neuropathy v1.60	PMP22	Louise Daugherty Added phenotypes Neuropathy, inflammatory demyelinating, 139393; Charcot Marie Tooth disease, type 1A, 118220; Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800; Dejerine Sottas disease, 145900; Neuropathy, recurrent, with pressure palsies, 162500 for gene: PMP22
29 Apr 2019	Hereditary neuropathy v1.60	PLP1	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: PLP1
29 Apr 2019	Hereditary neuropathy v1.60	PLN	Louise Daugherty Added phenotypes Cardiomyopathy for gene: PLN
29 Apr 2019	Hereditary neuropathy v1.60	PLEKHG5	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 for gene: PLEKHG5 Publications for gene PLEKHG5 were changed from to 23844677; 17564964
29 Apr 2019	Hereditary neuropathy v1.60	PKP2	Louise Daugherty Added phenotypes Cardiomyopathy for gene: PKP2
29 Apr 2019	Hereditary neuropathy v1.60	PDLIM3	Louise Daugherty Added phenotypes Cardiomyopathy for gene: PDLIM3
29 Apr 2019	Hereditary neuropathy v1.60	PDK3	Louise Daugherty Added phenotypes ?Charcot Marie Tooth disease, X linked dominant, 6, 300905 for gene: PDK3 Publications for gene PDK3 were changed from PMID: 23297365 (Kennerson et al, 2013) Australian family; PMID: 26801680 (Kennerson et al, 2016) Korean family to 26801680; 23297365
29 Apr 2019	Hereditary neuropathy v1.60	NTRK1	Louise Daugherty Added phenotypes Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis for gene: NTRK1 Publications for gene NTRK1 were changed from to 28940190
29 Apr 2019	Hereditary neuropathy v1.60	NRAS	Louise Daugherty Added phenotypes Cardiomyopathy for gene: NRAS
29 Apr 2019	Hereditary neuropathy v1.60	NIPA1	Louise Daugherty Added phenotypes Hereditary Neuropathies; Spastic paraplegia 6, autosomal dominant for gene: NIPA1 Publications for gene NIPA1 were changed from PMID: 22302102; 21419568; 14508710; 15643603; 15711826 to 22302102; 21419568; 15643603; 15711826; 14508710
29 Apr 2019	Hereditary neuropathy v1.60	NGF	Louise Daugherty Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type V; Neuropathy, hereditary sensory and autonomic, type V, 608654 for gene: NGF Publications for gene NGF were changed from to 1317267; 14976160
29 Apr 2019	Hereditary neuropathy v1.60	NEXN	Louise Daugherty Added phenotypes Cardiomyopathy for gene: NEXN
29 Apr 2019	Hereditary neuropathy v1.60	NEFL	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 2E, 607684; Charcot Marie Tooth disease, type 1F, 607734; Charcot-Marie-Tooth disease, dominant intermediate G, 617882 for gene: NEFL Publications for gene NEFL were changed from to 23618875; 10841809
29 Apr 2019	Hereditary neuropathy v1.60	NEBL	Louise Daugherty Added phenotypes Cardiomyopathy for gene: NEBL
29 Apr 2019	Hereditary neuropathy v1.60	NDRG1	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 4D, 601455 for gene: NDRG1 Publications for gene NDRG1 were changed from to 28776325; 10831399
29 Apr 2019	Hereditary neuropathy v1.60	NAGLU	Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 for gene: NAGLU Publications for gene NAGLU were changed from to 25818867
29 Apr 2019	Hereditary neuropathy v1.60	MYPN	Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYPN
29 Apr 2019	Hereditary neuropathy v1.60	MYOZ2	Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYOZ2
29 Apr 2019	Hereditary neuropathy v1.60	MYL3	Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYL3
29 Apr 2019	Hereditary neuropathy v1.60	MYL2	Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYL2
29 Apr 2019	Hereditary neuropathy v1.60	MYH7	Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYH7
29 Apr 2019	Hereditary neuropathy v1.60	MYH6	Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYH6
29 Apr 2019	Hereditary neuropathy v1.60	MYH14	Louise Daugherty Added phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 for gene: MYH14 Publications for gene MYH14 were changed from to 21480433; 27875632; 30373780
29 Apr 2019	Hereditary neuropathy v1.60	MYBPC3	Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYBPC3
29 Apr 2019	Hereditary neuropathy v1.60	MTTP	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: MTTP
29 Apr 2019	Hereditary neuropathy v1.60	MTMR2	Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 for gene: MTMR2 Publications for gene MTMR2 were changed from to 28509084; 10802647
29 Apr 2019	Hereditary neuropathy v1.60	MRE11	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: MRE11
29 Apr 2019	Hereditary neuropathy v1.60	MPZ	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 2I, 607677; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2J, 607736; Roussy Levy syndrome, 180800; Charcot Marie Tooth disease, dominant intermediate D, 607791; Dejerine Sottas disease, 145900; Neuropathy, congenital hypomyelinating, 605253 for gene: MPZ
29 Apr 2019	Hereditary neuropathy v1.60	MORC2	Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, 616688; axonal Charcot-Marie-Tooth disease for gene: MORC2
29 Apr 2019	Hereditary neuropathy v1.60	MFN2	Louise Daugherty Added phenotypes MFN2 axonal neuropathy; other; Charcot-Marie-Tooth, Type 2 (Dominant); Charcot Marie Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152; Hereditary Motor and Sensory Neuropathy (Recessive) for gene: MFN2
29 Apr 2019	Hereditary neuropathy v1.60	MED25	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 2B2, 605589 for gene: MED25 Publications for gene MED25 were changed from to 19290556
29 Apr 2019	Hereditary neuropathy v1.60	MARS	Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2U, 616280 for gene: MARS Publications for gene MARS were changed from to 23729695; 29655802
29 Apr 2019	Hereditary neuropathy v1.60	MAP2K2	Louise Daugherty Added phenotypes Cardiomyopathy for gene: MAP2K2
29 Apr 2019	Hereditary neuropathy v1.60	MAP2K1	Louise Daugherty Added phenotypes Cardiomyopathy for gene: MAP2K1
29 Apr 2019	Hereditary neuropathy v1.60	LRSAM1	Louise Daugherty Added phenotypes Charcot Marie Toothe disease, axonal, type 2P, 614436 for gene: LRSAM1 Publications for gene LRSAM1 were changed from to 22781092; 28335037
29 Apr 2019	Hereditary neuropathy v1.60	LMNA	Louise Daugherty Added phenotypes Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Charcot Marie Tooth disease, type 2B1, 605588; Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670; Emery Dreifuss muscular dystrophy 2, AD, 181350; Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112; Lipodystrophy, familial partial, 2, 151660; Emery Dreifuss muscular dystrophy 3, AR, 181350; Cardiomyopathy, dilated, 1A, 115200 for gene: LMNA Publications for gene LMNA were changed from to 11799477
29 Apr 2019	Hereditary neuropathy v1.60	LITAF	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 1C, 601098 for gene: LITAF Publications for gene LITAF were changed from to 28211240
29 Apr 2019	Hereditary neuropathy v1.60	LDB3	Louise Daugherty Added phenotypes Cardiomyopathy for gene: LDB3
29 Apr 2019	Hereditary neuropathy v1.60	LAS1L	Louise Daugherty Publications for gene LAS1L were changed from to 24647030
29 Apr 2019	Hereditary neuropathy v1.60	LAMP2	Louise Daugherty Added phenotypes Cardiomyopathy for gene: LAMP2
29 Apr 2019	Hereditary neuropathy v1.60	LAMA4	Louise Daugherty Added phenotypes Cardiomyopathy for gene: LAMA4
29 Apr 2019	Hereditary neuropathy v1.60	L1CAM	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: L1CAM
29 Apr 2019	Hereditary neuropathy v1.60	KRAS	Louise Daugherty Added phenotypes Cardiomyopathy for gene: KRAS
29 Apr 2019	Hereditary neuropathy v1.60	KIF1B	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 2A1, 118210 for gene: KIF1B Publications for gene KIF1B were changed from PMID: 26392352 to 11389829; 25802885
29 Apr 2019	Hereditary neuropathy v1.60	KCNC3	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: KCNC3
29 Apr 2019	Hereditary neuropathy v1.60	KCNA1	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: KCNA1
29 Apr 2019	Hereditary neuropathy v1.60	KARS	Louise Daugherty Added phenotypes Deafness, autosomal recessive 89, 613916; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot Marie Tooth disease, recessive intermediate, B, 613641 for gene: KARS Publications for gene KARS were changed from to 23768514; 25476837; 20920668
29 Apr 2019	Hereditary neuropathy v1.60	JUP	Louise Daugherty Added phenotypes Cardiomyopathy for gene: JUP
29 Apr 2019	Hereditary neuropathy v1.60	JPH2	Louise Daugherty Added phenotypes Cardiomyopathy for gene: JPH2
29 Apr 2019	Hereditary neuropathy v1.60	ITPR1	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: ITPR1
29 Apr 2019	Hereditary neuropathy v1.60	IGHMBP2	Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320 for gene: IGHMBP2 Publications for gene IGHMBP2 were changed from PMID: 26392352 to 26392352
29 Apr 2019	Hereditary neuropathy v1.60	HSPB8	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, axonal, type 2L, 608673; Neuropathy, distal hereditary motor, type IIA, 158590 for gene: HSPB8 Publications for gene HSPB8 were changed from to 28780615; 23389032
29 Apr 2019	Hereditary neuropathy v1.60	HSPB3	Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type IIC, 613376 for gene: HSPB3 Publications for gene HSPB3 were changed from PMID: 20142617 missense variant reported in 2 siblings with an asymmetric axonal motor neuropathy. to 27549087; 20142617
29 Apr 2019	Hereditary neuropathy v1.60	HSPB1	Louise Daugherty Added phenotypes Neuropathy, distal hereditary motor, type IIB, 608634; Charcot Marie Tooth disease, axonal, type 2F, 606595 for gene: HSPB1 Publications for gene HSPB1 were changed from 28379183 to 15122254; 28379183
29 Apr 2019	Hereditary neuropathy v1.60	HRAS	Louise Daugherty Added phenotypes Cardiomyopathy for gene: HRAS
29 Apr 2019	Hereditary neuropathy v1.60	HOXD10	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, foot deformity of, 192950 for gene: HOXD10 Publications for gene HOXD10 were changed from to 15146389
29 Apr 2019	Hereditary neuropathy v1.60	GNB4	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, dominant intermediate F, 615185 for gene: GNB4 Publications for gene GNB4 were changed from PMID: 23434117 - one heterozygous variant reported in affected first cousins, another variant identified in one indidvidual with CMT. to 28642160; 27908631; 23434117
29 Apr 2019	Hereditary neuropathy v1.60	GJB1	Louise Daugherty Added phenotypes Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800; Charcot-Marie-Tooth, X-linked for gene: GJB1 Publications for gene GJB1 were changed from to 8266101
29 Apr 2019	Hereditary neuropathy v1.60	GDAP1	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 4A, 214400; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot-Marie-Tooth with Vocal Cord Paresis (recessive); Charcot Marie Tooth disease, axonal, type 2K, 607831; Charcot Marie Tooth disease, recessive intermediate, A, 608340 for gene: GDAP1 Publications for gene GDAP1 were changed from to 11743579; 2937239
29 Apr 2019	Hereditary neuropathy v1.60	GATAD1	Louise Daugherty Added phenotypes Cardiomyopathy for gene: GATAD1
29 Apr 2019	Hereditary neuropathy v1.60	GARS	Louise Daugherty Added phenotypes Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472 for gene: GARS Publications for gene GARS were changed from to 29648643
29 Apr 2019	Hereditary neuropathy v1.60	GAN	Louise Daugherty Added phenotypes Giant axonal neuropathy-1 for gene: GAN Publications for gene GAN were changed from to 1106248
29 Apr 2019	Hereditary neuropathy v1.60	GAA	Louise Daugherty Added phenotypes Cardiomyopathy for gene: GAA Publications for gene GAA were changed from to 24627108
29 Apr 2019	Hereditary neuropathy v1.60	FXN	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: FXN
29 Apr 2019	Hereditary neuropathy v1.60	FKTN	Louise Daugherty Added phenotypes Cardiomyopathy for gene: FKTN
29 Apr 2019	Hereditary neuropathy v1.60	FIG4	Louise Daugherty Added phenotypes Yunis Varon syndrome, 216340; Amyotrophic lateral sclerosis 11, 612577; Charcot Marie Tooth disease, type 4J, 611228 for gene: FIG4 Publications for gene FIG4 were changed from to 17572665
29 Apr 2019	Hereditary neuropathy v1.60	FGF14	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: FGF14
29 Apr 2019	Hereditary neuropathy v1.60	FGD4	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 4H, 609311; Charcot-Marie-Tooth, Type 4 for gene: FGD4 Publications for gene FGD4 were changed from to 17564959; 15744041
29 Apr 2019	Hereditary neuropathy v1.60	FBXO38	Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type IID, 615575 for gene: FBXO38
29 Apr 2019	Hereditary neuropathy v1.60	EMD	Louise Daugherty Added phenotypes Cardiomyopathy for gene: EMD
29 Apr 2019	Hereditary neuropathy v1.60	ELP1	Louise Daugherty Added phenotypes Dysautonomia, familial, 223900 for gene: ELP1 Publications for gene ELP1 were changed from to 26392352
29 Apr 2019	Hereditary neuropathy v1.60	EGR2	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 1D, 607678; Charcot-Marie-Tooth, Type 1 for gene: EGR2 Publications for gene EGR2 were changed from to 9537424
29 Apr 2019	Hereditary neuropathy v1.60	DYNC1H1	Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity predominant, AD, 158600; Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563 for gene: DYNC1H1 Publications for gene DYNC1H1 were changed from PMID: 21820100; PMID: 26392352 to 21820100; 26392352
29 Apr 2019	Hereditary neuropathy v1.60	DTNA	Louise Daugherty Added phenotypes Cardiomyopathy for gene: DTNA
29 Apr 2019	Hereditary neuropathy v1.60	DST	Louise Daugherty Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type VI; others; ?Neuropathy, hereditary sensory and autonomic, type VI; Neuropathy, hereditary sensory and autonomic, type VI, 614653 for gene: DST Publications for gene DST were changed from to 30371979; 28468842
29 Apr 2019	Hereditary neuropathy v1.60	DSP	Louise Daugherty Added phenotypes Cardiomyopathy for gene: DSP
29 Apr 2019	Hereditary neuropathy v1.60	DSG2	Louise Daugherty Added phenotypes Cardiomyopathy for gene: DSG2
29 Apr 2019	Hereditary neuropathy v1.60	DSC2	Louise Daugherty Added phenotypes Cardiomyopathy for gene: DSC2
29 Apr 2019	Hereditary neuropathy v1.60	DRP2	Louise Daugherty Publications for gene DRP2 were changed from to 29473052; 26227883
29 Apr 2019	Hereditary neuropathy v1.60	DNMT1	Louise Daugherty Added phenotypes Dementia, Deafness, and Sensory Neuropathy; other; Neuropathy, hereditary sensory, type IE, 614116 for gene: DNMT1 Publications for gene DNMT1 were changed from to 21532572
29 Apr 2019	Hereditary neuropathy v1.60	DNM2	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, dominant intermediate B, 606482; Charcot Marie Tooth disease, axonal, type 2M, 606482; Myopathy, centronuclear, 160150; Lethal congenital contracture syndrome 5, 615368; Charcot-Marie-Tooth, Intermediate for gene: DNM2 Publications for gene DNM2 were changed from to 15731758
29 Apr 2019	Hereditary neuropathy v1.60	DNAJB2	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: DNAJB2
29 Apr 2019	Hereditary neuropathy v1.60	DMD	Louise Daugherty Added phenotypes Cardiomyopathy for gene: DMD
29 Apr 2019	Hereditary neuropathy v1.60	DHTKD1	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750 for gene: DHTKD1
29 Apr 2019	Hereditary neuropathy v1.60	DES	Louise Daugherty Added phenotypes Cardiomyopathy for gene: DES
29 Apr 2019	Hereditary neuropathy v1.60	DCTN1	Louise Daugherty Added phenotypes {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641; Perry syndrome 168605 for gene: DCTN1 Publications for gene DCTN1 were changed from PMID: 27025386 (2016) - Study includes the report of a 12 year old boy with distal hereditary motor neuropathy 7B (dHMN7B) in whom the DCTN1 c.1019A > G p.E340G variant was as likely pathogenic. to 28251916; 24627108; 27025386
29 Apr 2019	Hereditary neuropathy v1.60	DCAF8	Louise Daugherty Added phenotypes ?Giant axonal neuropathy 2, autosomal dominant, 610100 for gene: DCAF8 Publications for gene DCAF8 were changed from to 24500646
29 Apr 2019	Hereditary neuropathy v1.60	CTDP1	Louise Daugherty Added phenotypes Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) for gene: CTDP1 Publications for gene CTDP1 were changed from PMID: 24690360 - 10 CCFDN children living in the Czech Republic. All patients are children of different ages, all of Gypsy origin born in the Czech Republic. Molecular genetic testing for the founder CTDP1 gene mutation was performed. All patients are homozygous for the c.863 + 389C>T mutation in the CTDP1 gene; PMID: 16194727 - Demonstrated the presence of the homozygous IVS6+389C>T mutation in the CTDP1 gene in a family with congenital cataracts facial dysmorphism neuropathy. PMID: 14517542 - original report of this variant in an endogamous group of Vlax Roma. to 14517542; 24690360; 16194727
29 Apr 2019	Hereditary neuropathy v1.60	CSRP3	Louise Daugherty Added phenotypes Cardiomyopathy for gene: CSRP3
29 Apr 2019	Hereditary neuropathy v1.60	CRYAB	Louise Daugherty Added phenotypes Cardiomyopathy for gene: CRYAB
29 Apr 2019	Hereditary neuropathy v1.60	COX6A1	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, recessive intermediate D, 616039 for gene: COX6A1 Publications for gene COX6A1 were changed from to 26302975; 25152455
29 Apr 2019	Hereditary neuropathy v1.60	COQ8A	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: COQ8A
29 Apr 2019	Hereditary neuropathy v1.60	CLTCL1	Louise Daugherty Publications for gene CLTCL1 were changed from to 26068709
29 Apr 2019	Hereditary neuropathy v1.60	CHCHD10	Louise Daugherty Added phenotypes Spinal muscular atrophy, Jokela type: 615048 for gene: CHCHD10 Publications for gene CHCHD10 were changed from to 25428574
29 Apr 2019	Hereditary neuropathy v1.60	CCT5	Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840; Sensory Neuropathy with Spastic Paraplegia for gene: CCT5 Publications for gene CCT5 were changed from to 16399879
29 Apr 2019	Hereditary neuropathy v1.60	CAV3	Louise Daugherty Added phenotypes Cardiomyopathy for gene: CAV3
29 Apr 2019	Hereditary neuropathy v1.60	CASQ2	Louise Daugherty Added phenotypes Cardiomyopathy for gene: CASQ2
29 Apr 2019	Hereditary neuropathy v1.60	CACNB4	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: CACNB4
29 Apr 2019	Hereditary neuropathy v1.60	C12orf65	Louise Daugherty Publications for gene C12orf65 were changed from to 24198383; 28091420
29 Apr 2019	Hereditary neuropathy v1.60	BSCL2	Louise Daugherty Added phenotypes Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Lipodystrophy, congenital generalized, type 2 269700; Silver spastic paraplegia syndrome 270685 for gene: BSCL2 Publications for gene BSCL2 were changed from PMID: 26392352 to 26392352
29 Apr 2019	Hereditary neuropathy v1.60	BRAF	Louise Daugherty Added phenotypes Cardiomyopathy for gene: BRAF
29 Apr 2019	Hereditary neuropathy v1.60	BICD2	Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 for gene: BICD2 Publications for gene BICD2 were changed from to 23664116
29 Apr 2019	Hereditary neuropathy v1.60	BAG3	Louise Daugherty Added phenotypes Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881 for gene: BAG3 Publications for gene BAG3 were changed from PMID: 25728519 - we describe the first case in which cardiomyopathy and cardiac transplantation (age eight) preceded neuromuscular weakness by several years (age 12); 22734908 - we describe four patients with heterozygous BAG3 mutations with clinical evidence of a sensorimotor neuropathy, with predominantly axonal features on neurophysiology. Three patients presented with a significant neuropathy; PMID: 26545904 - Genetic testing demonstrated heterozygous mutation Pro209Leu (c.626C > T) in exon 3 of BAG3 gene causing severe myopathy and neuropathy, often associated with restrictive cardiomyopathy. to 28754666; 22734908
29 Apr 2019	Hereditary neuropathy v1.60	ATP7A	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: ATP7A Publications for gene ATP7A were changed from to 20170900
29 Apr 2019	Hereditary neuropathy v1.60	ATM	Louise Daugherty Added phenotypes Hereditary Neuropathies; Ataxia-telangiectasia for gene: ATM
29 Apr 2019	Hereditary neuropathy v1.60	ATL3	Louise Daugherty Publications for gene ATL3 were changed from Literature search 6th May 2016, 2 articles found; PMID: 24459106 c.575A>G (p.Tyr192Cys) heterozygous segregated with affected family members in a German family and Spanish family with hereditary sensory and autonomic neuropathies type 1, Haplotype analysis at the ATL3 locus of both families suggested that they share the same alleles compatible with identity by descent; PMID: 24736309 - report of a Bosnian family, in which father and son with hereditary sensory neuropathy type 1 were heterozygous for ATL3 c.1013C>G p.Pro338Arg, that was not found in unaffected son. to 24736309; 24459106
29 Apr 2019	Hereditary neuropathy v1.60	ATL1	Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, type ID, 613708 for gene: ATL1 Publications for gene ATL1 were changed from to 21194679
29 Apr 2019	Hereditary neuropathy v1.60	ARHGEF10	Louise Daugherty Added phenotypes ?Slowed nerve conduction velocity, AD, 608236 for gene: ARHGEF10 Publications for gene ARHGEF10 were changed from to 14508709
29 Apr 2019	Hereditary neuropathy v1.60	APTX	Louise Daugherty Added phenotypes Hereditary Neuropathies; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; ATAXIA WITH OCULOMOTOR APRAXIA 1 for gene: APTX Publications for gene APTX were changed from to 11176957
29 Apr 2019	Hereditary neuropathy v1.60	ANKRD1	Louise Daugherty Added phenotypes Cardiomyopathy for gene: ANKRD1
29 Apr 2019	Hereditary neuropathy v1.60	ALDH3A2	Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: ALDH3A2
29 Apr 2019	Hereditary neuropathy v1.60	AIFM1	Louise Daugherty Added phenotypes Cowchock syndrome; Combined oxidative phosphorylation deficiency 6 for gene: AIFM1 Publications for gene AIFM1 were changed from to 3856385
29 Apr 2019	Hereditary neuropathy v1.60	ACTN2	Louise Daugherty Added phenotypes Cardiomyopathy for gene: ACTN2
29 Apr 2019	Hereditary neuropathy v1.60	ACTC1	Louise Daugherty Added phenotypes Cardiomyopathy for gene: ACTC1
29 Apr 2019	Hereditary neuropathy v1.60	ABCC9	Louise Daugherty Added phenotypes Cardiomyopathy for gene: ABCC9
29 Apr 2019	Hereditary neuropathy v1.60	AARS	Louise Daugherty Added phenotypes Charcot Marie Tooth disease, axonal, type 2N, 613287; Charcot-Marie-Tooth, Type 2 for gene: AARS Publications for gene AARS were changed from PMID: 26032230, PMID: 26392352 to 20045102; 26032230, 26392352
29 Apr 2019	Hereditary neuropathy v1.59	DNAJB2	Louise Daugherty Publications for gene: DNAJB2 were set to PMID: 26752306 - c.352+1G>A mutation found in two cases. Report that DNAJB2 c.352+1G>A may be a founder event; PMID: 25274842 - HSJ1 (previous symbol for DNAJB2) variants reported in a family with Charcot-Marie-Tooth disease, and another with distal hereditary motor neuropathy.
29 Apr 2019	Hereditary neuropathy v1.58	ZFYVE27	Natalie Forrester reviewed gene: ZFYVE27: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	ZFYVE26	Natalie Forrester reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	YARS	Natalie Forrester reviewed gene: YARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 16429158, 19561293; Phenotypes: Charcot Marie Tooth disease, dominant intermediate C, 608323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	WNK1	Natalie Forrester reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15060842; Phenotypes: Hereditary Sensory and Autonomic Neuropathy, Type II , Neuropathy, hereditary sensory and autonomic, type II, 201300, Pseudohypoaldosteronism, type IIC, 614492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	WASHC5	Natalie Forrester reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: ; Publications: 27164712; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	VCL	Natalie Forrester reviewed gene: VCL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	TWNK	Natalie Forrester reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	TTPA	Natalie Forrester reviewed gene: TTPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	TTN	Natalie Forrester reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	TTBK2	Natalie Forrester reviewed gene: TTBK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	TRPV4	Natalie Forrester reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20037586; Phenotypes: other disorders, Hereditary motor and sensory neuropathy, type IIc, 606071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	TRIM2	Natalie Forrester reviewed gene: TRIM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23562820, 18687884, 25893792; Phenotypes: Charcot-Marie-Tooth disease, type 2R, 615490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	TPM1	Natalie Forrester reviewed gene: TPM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	TNNT2	Natalie Forrester reviewed gene: TNNT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
29 Apr 2019	Hereditary neuropathy v1.58	TNNI3	Natalie Forrester reviewed gene: TNNI3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	TNNC1	Natalie Forrester reviewed gene: TNNC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	TMEM43	Natalie Forrester reviewed gene: TMEM43: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	TDP1	Natalie Forrester reviewed gene: TDP1: Rating: RED; Mode of pathogenicity: ; Publications: 12244316; Phenotypes: Hereditary Neuropathies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	TCAP	Natalie Forrester reviewed gene: TCAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	TAZ	Natalie Forrester reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	SYT2	Natalie Forrester reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30533528, 26519543; Phenotypes: Myasthenic syndrome, congenital, 7, presynaptic; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	SPTLC2	Natalie Forrester reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20920666; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IC, 613640 , Hereditary Sensory and Autonomic Neuropathy, Type IC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	SPTLC1	Natalie Forrester reviewed gene: SPTLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20097765, 16216550; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, 162400 , Hereditary Sensory and Autonomic Neuropathy, Type II , Neuropathy, hereditary sensory and autonomic, type IA, 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	SPTBN2	Natalie Forrester reviewed gene: SPTBN2: Rating: RED; Mode of pathogenicity: ; Publications: 28333917; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	SPG7	Natalie Forrester reviewed gene: SPG7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	SPG21	Natalie Forrester reviewed gene: SPG21: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	SPART	Natalie Forrester reviewed gene: SPART: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	SOX10	Natalie Forrester reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: ; Publications: 21898658; Phenotypes: PCWH syndrome, 609136, Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584, Waardenburg syndrome, type 4C, 613266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	SOS1	Natalie Forrester reviewed gene: SOS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	SLC5A7	Natalie Forrester reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: ; Publications: 23141292, 29782645; Phenotypes: Neuronopathy, distal hereditary motor, type VIIA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	SLC52A1	Natalie Forrester reviewed gene: SLC52A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: dHMN, Riboflavin deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
29 Apr 2019	Hereditary neuropathy v1.58	SLC1A3	Natalie Forrester reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	SLC12A6	Natalie Forrester reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12368912; Phenotypes: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	SIL1	Natalie Forrester reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	SH3TC2	Natalie Forrester reviewed gene: SH3TC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19805030; Phenotypes: Charcot Marie Tooth disease, type 4C, 601596, Mononeuropathy of the median nerve, mild, 613353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	SGCD	Natalie Forrester reviewed gene: SGCD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	SEPT9	Natalie Forrester reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: ; Publications: 16186812, 19451530; Phenotypes: Amyotrophy, hereditary neuralgic, Neuralgic amyotrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	SCN9A	Natalie Forrester reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26392352; Phenotypes: Hereditary Neuropathies; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	SCN5A	Natalie Forrester reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	SBF2	Natalie Forrester reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12554688, 17855448; Phenotypes: Charcot Marie Tooth disease, type 4B2, 604563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	SBF1	Natalie Forrester reviewed gene: SBF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23749797, 24799518, 21210780, 28005197; Phenotypes: Charcot-Marie-Tooth disease, type 4B3, 615284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	RYR2	Natalie Forrester reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	RIT1	Natalie Forrester reviewed gene: RIT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	RETREG1	Natalie Forrester reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30373780, 19838196; Phenotypes: Hereditary Sensory and Autonomic Neuropathy, Type II , Neuropathy, hereditary sensory and autonomic, type IIB, 613115 , Neuropathy, hereditary sensory and autonomic, type IIB, 613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	REEP1	Natalie Forrester reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19034539, 22703882; Phenotypes: Spastic paraplegia 31, autosomal dominant 610250, ?Neuronopathy, distal hereditary motor, type VB, 614751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	RBM20	Natalie Forrester reviewed gene: RBM20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	RAF1	Natalie Forrester reviewed gene: RAF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	RAB7A	Natalie Forrester reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26791407; Phenotypes: Charcot-Marie-Tooth disease, type 2B, 600882; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	PTPN11	Natalie Forrester reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	PRX	Natalie Forrester reviewed gene: PRX: Rating: GREEN; Mode of pathogenicity: ; Publications: 11157804, 10848494; Phenotypes: Charcot Marie Tooth disease, type 4F, 614895, Dejerine Sottas disease, autosomal recessive, 145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	PRPS1	Natalie Forrester reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17701900, 24285972; Phenotypes: Charcot Marie Tooth disease, X linked recessive, 5, 311070; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	PRKCG	Natalie Forrester reviewed gene: PRKCG: Rating: RED; Mode of pathogenicity: ; Publications: 26633542; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	PRKAG2	Natalie Forrester reviewed gene: PRKAG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	PNPLA6	Natalie Forrester reviewed gene: PNPLA6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	PMP22	Natalie Forrester reviewed gene: PMP22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot Marie Tooth disease, type 1A, 118220, Dejerine Sottas disease, 145900, Neuropathy, recurrent, with pressure palsies, 162500, Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800, Neuropathy, inflammatory demyelinating, 139393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	PLP1	Natalie Forrester reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
29 Apr 2019	Hereditary neuropathy v1.58	PLN	Natalie Forrester reviewed gene: PLN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	PLEKHG5	Natalie Forrester reviewed gene: PLEKHG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23844677, 17564964; Phenotypes: Charcot Marie Tooth disease, recessive intermediate C, 615376, Spinal muscular atrophy, distal, autosomal recessive, 4, 611067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	PKP2	Natalie Forrester reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	PDLIM3	Natalie Forrester reviewed gene: PDLIM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	PDK3	Natalie Forrester reviewed gene: PDK3: Rating: AMBER; Mode of pathogenicity: ; Publications: 23297365, 26801680; Phenotypes: ?Charcot Marie Tooth disease, X linked dominant, 6, 300905; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	NTRK1	Natalie Forrester reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28940190; Phenotypes: Hereditary Neuropathies, Insensitivity to pain, congenital, with anhidrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	NRAS	Natalie Forrester reviewed gene: NRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	NIPA1	Natalie Forrester reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: ; Publications: 22302102, 21419568, 14508710, 15643603, 15711826; Phenotypes: Hereditary Neuropathies, Spastic paraplegia 6, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
29 Apr 2019	Hereditary neuropathy v1.58	NGF	Natalie Forrester reviewed gene: NGF: Rating: GREEN; Mode of pathogenicity: ; Publications: 1317267, 14976160; Phenotypes: Hereditary Sensory and Autonomic Neuropathy, Type V , Neuropathy, hereditary sensory and autonomic, type V, 608654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	NEXN	Natalie Forrester reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	NEFL	Natalie Forrester reviewed gene: NEFL: Rating: GREEN; Mode of pathogenicity: ; Publications: 10841809, 23618875; Phenotypes: Charcot Marie Tooth disease, type 2E, 607684, Charcot Marie Tooth disease, type 1F, 607734, Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	NEBL	Natalie Forrester reviewed gene: NEBL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	NDRG1	Natalie Forrester reviewed gene: NDRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28776325, 10831399 ; Phenotypes: Charcot Marie Tooth disease, type 4D, 601455; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	NAGLU	Natalie Forrester reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: 25818867; Phenotypes: ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Apr 2019	Hereditary neuropathy v1.58	MYPN	Natalie Forrester reviewed gene: MYPN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	MYOZ2	Natalie Forrester reviewed gene: MYOZ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	MYL3	Natalie Forrester reviewed gene: MYL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	MYL2	Natalie Forrester reviewed gene: MYL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	MYH7	Natalie Forrester reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	MYH6	Natalie Forrester reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	MYH14	Natalie Forrester reviewed gene: MYH14: Rating: RED; Mode of pathogenicity: ; Publications: 21480433, 27875632, 30373780; Phenotypes: ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Apr 2019	Hereditary neuropathy v1.58	MYBPC3	Natalie Forrester reviewed gene: MYBPC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	MTTP	Natalie Forrester reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	MTMR2	Natalie Forrester reviewed gene: MTMR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10802647, 28509084; Phenotypes: Charcot-Marie-Tooth disease, type 4B1, 601382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	MRE11	Natalie Forrester reviewed gene: MRE11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	MPZ	Natalie Forrester reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot Marie Tooth disease, type 1B, 118200, Dejerine Sottas disease, 145900, Neuropathy, congenital hypomyelinating, 605253, Charcot Marie Tooth disease, type 2J, 607736, Roussy Levy syndrome, 180800, Charcot Marie Tooth disease, type 2I, 607677, Charcot Marie Tooth disease, dominant intermediate D, 607791; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	MORC2	Natalie Forrester reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26497905, 26659848; Phenotypes: axonal Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, axonal, type 2Z, 616688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	MFN2	Natalie Forrester reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot Marie Tooth disease, type 2A2, 609260, Hereditary motor and sensory neuropathy VI, 601152, other, Charcot-Marie-Tooth, Type 2 (Dominant), Hereditary Motor and Sensory Neuropathy (Recessive), MFN2 axonal neuropathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	MED25	Natalie Forrester reviewed gene: MED25: Rating: RED; Mode of pathogenicity: ; Publications: 19290556; Phenotypes: Charcot Marie Tooth disease, type 2B2, 605589 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	MARS	Natalie Forrester reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 23729695, 29655802; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2U, 616280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	MAP2K2	Natalie Forrester reviewed gene: MAP2K2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	MAP2K1	Natalie Forrester reviewed gene: MAP2K1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	LRSAM1	Natalie Forrester reviewed gene: LRSAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22781092, 28335037; Phenotypes: Charcot Marie Toothe disease, axonal, type 2P, 614436; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	LMNA	Natalie Forrester reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 11799477; Phenotypes: Emery Dreifuss muscular dystrophy 2, AD, 181350, Cardiomyopathy, dilated, 1A, 115200, Charcot Marie Tooth disease, type 2B1, 605588, Emery Dreifuss muscular dystrophy 3, AR, 181350, Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112, Lipodystrophy, familial partial, 2, 151660, Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670, Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	LITAF	Natalie Forrester reviewed gene: LITAF: Rating: GREEN; Mode of pathogenicity: ; Publications: 28211240; Phenotypes: Charcot Marie Tooth disease, type 1C, 601098; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	LDB3	Natalie Forrester reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	LAS1L	Natalie Forrester reviewed gene: LAS1L: Rating: RED; Mode of pathogenicity: ; Publications: 24647030; 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)
29 Apr 2019	Hereditary neuropathy v1.58	LAMP2	Natalie Forrester reviewed gene: LAMP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	LAMA4	Natalie Forrester reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	L1CAM	Natalie Forrester reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	KRAS	Natalie Forrester reviewed gene: KRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	KIF1B	Natalie Forrester reviewed gene: KIF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 11389829, 25802885; Phenotypes: Charcot Marie Tooth disease, type 2A1, 118210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	KCNC3	Natalie Forrester reviewed gene: KCNC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	KCNA1	Natalie Forrester reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	KARS	Natalie Forrester reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 20920668, 25476837, 23768514 ; Phenotypes: Charcot Marie Tooth disease, recessive intermediate, B, 613641, Deafness, autosomal recessive 89, 613916, Deafness, autosomal recessive 89, 613916, Charcot-Marie-Tooth, Intermediate (Dominant); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	JUP	Natalie Forrester reviewed gene: JUP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	JPH2	Natalie Forrester reviewed gene: JPH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	ITPR1	Natalie Forrester reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	IGHMBP2	Natalie Forrester reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26392352; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2S 616155, Neuronopathy, distal hereditary motor, type VI, 604320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	HSPB8	Natalie Forrester reviewed gene: HSPB8: Rating: GREEN; Mode of pathogenicity: ; Publications: 28780615, 23389032; Phenotypes: Charcot Marie Tooth disease, axonal, type 2L, 608673, Neuropathy, distal hereditary motor, type IIA, 158590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	HSPB3	Natalie Forrester reviewed gene: HSPB3: Rating: RED; Mode of pathogenicity: ; Publications: 20142617, 27549087; Phenotypes: ?Neuronopathy, distal hereditary motor, type IIC, 613376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	HSPB1	Natalie Forrester reviewed gene: HSPB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28379183, 15122254; Phenotypes: Charcot Marie Tooth disease, axonal, type 2F, 606595, Neuropathy, distal hereditary motor, type IIB, 608634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	HRAS	Natalie Forrester reviewed gene: HRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	HOXD10	Natalie Forrester reviewed gene: HOXD10: Rating: RED; Mode of pathogenicity: ; Publications: 15146389; Phenotypes: Charcot Marie Tooth disease, foot deformity of, 192950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	HADHB	Natalie Forrester reviewed gene: HADHB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	HADHA	Natalie Forrester reviewed gene: HADHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Apr 2019	Hereditary neuropathy v1.58	GNB4	Natalie Forrester reviewed gene: GNB4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23434117, 27908631, 28642160; Phenotypes: Charcot Marie Tooth disease, dominant intermediate F, 615185; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	GJB1	Natalie Forrester reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8266101; Phenotypes: Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800 , Charcot-Marie-Tooth, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	GDAP1	Natalie Forrester reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11743579, 2937239; Phenotypes: Charcot-Marie-Tooth with Vocal Cord Paresis (recessive), Charcot-Marie-Tooth, Intermediate (Dominant), Charcot Marie Tooth disease, type 4A, 214400, Charcot Marie Tooth disease, type 4A, 214400, Charcot Marie Tooth disease, axonal, type 2K, 607831, Charcot Marie Tooth disease, recessive intermediate, A, 608340; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	GATAD1	Natalie Forrester reviewed gene: GATAD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	GARS	Natalie Forrester reviewed gene: GARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 29648643; Phenotypes: Charcot Marie Tooth disease, type 2D, 601472, Neuropathy, distal hereditary motor, type V, 600794; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	GAN	Natalie Forrester reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: ; Publications: 1106248; Phenotypes: Giant axonal neuropathy-1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	GAA	Natalie Forrester reviewed gene: GAA: Rating: RED; Mode of pathogenicity: ; Publications: 24627108; Phenotypes: Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Apr 2019	Hereditary neuropathy v1.58	FXN	Natalie Forrester reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	FKTN	Natalie Forrester reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	FIG4	Natalie Forrester reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17572665; Phenotypes: Charcot Marie Tooth disease, type 4J, 611228, Amyotrophic lateral sclerosis 11, 612577, Yunis Varon syndrome, 216340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	FGF14	Natalie Forrester reviewed gene: FGF14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	FGD4	Natalie Forrester reviewed gene: FGD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 15744041, 17564959; Phenotypes: Charcot-Marie-Tooth, Type 4 , Charcot Marie Tooth disease, type 4H, 609311; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	FBXO38	Natalie Forrester reviewed gene: FBXO38: Rating: AMBER; Mode of pathogenicity: ; Publications: 24207122; Phenotypes: Neuronopathy, distal hereditary motor, type IID, 615575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	EMD	Natalie Forrester reviewed gene: EMD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	ELP1	Natalie Forrester reviewed gene: ELP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26392352; Phenotypes: Dysautonomia, familial, 223900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	EGR2	Natalie Forrester reviewed gene: EGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9537424; Phenotypes: Charcot-Marie-Tooth, Type 1 , Charcot Marie Tooth disease, type 1D, 607678; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	DYNC1H1	Natalie Forrester reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21820100, 26392352; Phenotypes: Charcot Marie Tooth disease, axonal, type 20, 614228, Mental retardation, autosomal dominant 13, 614563, Spinal muscular atrophy, lower extremity predominant, AD, 158600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	DTNA	Natalie Forrester reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	DST	Natalie Forrester reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: 30371979, 28468842; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VI, 614653, others, Hereditary Sensory and Autonomic Neuropathy, Type VI, ?Neuropathy, hereditary sensory and autonomic, type VI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	DSP	Natalie Forrester reviewed gene: DSP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	DSG2	Natalie Forrester reviewed gene: DSG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	DSC2	Natalie Forrester reviewed gene: DSC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	DRP2	Natalie Forrester reviewed gene: DRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29473052, 26227883; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
29 Apr 2019	Hereditary neuropathy v1.58	DNMT1	Natalie Forrester reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21532572; Phenotypes: Neuropathy, hereditary sensory, type IE, 614116, other, Neuropathy, hereditary sensory, type IE, 614116 , Dementia, Deafness, and Sensory Neuropathy ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	DNM2	Natalie Forrester reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15731758; Phenotypes: Charcot-Marie-Tooth, Intermediate , Charcot Marie Tooth disease, dominant intermediate B, 606482, Charcot Marie Tooth disease, axonal, type 2M, 606482, Myopathy, centronuclear, 160150, Lethal congenital contracture syndrome 5, 615368; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	DNAJB2	Natalie Forrester reviewed gene: DNAJB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26752306 , 25274842; Phenotypes: Hereditary Neuropathies; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	DMD	Natalie Forrester reviewed gene: DMD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	DHTKD1	Natalie Forrester reviewed gene: DHTKD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot Marie Tooth disease, axonal, type 2Q, 615025, 2 aminoadipic 2 oxoadipic aciduria, 204750; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	DHH	Natalie Forrester reviewed gene: DHH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	DES	Natalie Forrester reviewed gene: DES: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	DCTN1	Natalie Forrester reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27025386, 28251916, 24627108; Phenotypes: Neuropathy, distal hereditary motor, type VIIB 607641, Perry syndrome 168605, {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	DCAF8	Natalie Forrester reviewed gene: DCAF8: Rating: RED; Mode of pathogenicity: ; Publications: 24500646; Phenotypes: ?Giant axonal neuropathy 2, autosomal dominant, 610100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Apr 2019	Hereditary neuropathy v1.58	CTDP1	Natalie Forrester reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24690360, 16194727, 14517542; Phenotypes: Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	CSRP3	Natalie Forrester reviewed gene: CSRP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	CRYAB	Natalie Forrester reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	COX6A1	Natalie Forrester reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25152455, 26302975; Phenotypes: Charcot Marie Tooth disease, recessive intermediate D, 616039; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	COQ8A	Natalie Forrester reviewed gene: COQ8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	CLTCL1	Natalie Forrester reviewed gene: CLTCL1: Rating: RED; Mode of pathogenicity: ; Publications: 26068709; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Apr 2019	Hereditary neuropathy v1.58	CHCHD10	Natalie Forrester reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: ; Publications: 25428574; Phenotypes: Spinal muscular atrophy, Jokela type: 615048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Apr 2019	Hereditary neuropathy v1.58	CCT5	Natalie Forrester reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: 16399879; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia, 256840, Sensory Neuropathy with Spastic Paraplegia , Neuropathy, hereditary sensory, with spastic paraplegia, 256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	CAV3	Natalie Forrester reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	CASQ2	Natalie Forrester reviewed gene: CASQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	CACNB4	Natalie Forrester reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	C12orf65	Natalie Forrester reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: 28091420, 24198383; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Apr 2019	Hereditary neuropathy v1.58	BSCL2	Natalie Forrester reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26392352; Phenotypes: Neuropathy, distal hereditary motor, type VA 600794, Silver spastic paraplegia syndrome 270685, Lipodystrophy, congenital generalized, type 2 269700, Encephalopathy, progressive, with or without lipodystrophy, 615924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	BRAF	Natalie Forrester reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	BICD2	Natalie Forrester reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23664116; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	BAG3	Natalie Forrester reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: ; Publications: 28754666, 22734908; Phenotypes: Cardiomyopathy, dilated, 1HH, 613881, Myopathy, myofibrillar, 6 612954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	ATP7A	Natalie Forrester reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 20170900; Phenotypes: Hereditary Neuropathies; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	ATM	Natalie Forrester reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies, Ataxia-telangiectasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Apr 2019	Hereditary neuropathy v1.58	ATL3	Natalie Forrester reviewed gene: ATL3: Rating: AMBER; Mode of pathogenicity: ; Publications: 24459106, 24736309; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Apr 2019	Hereditary neuropathy v1.58	ATL1	Natalie Forrester reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21194679; Phenotypes: Neuropathy, hereditary sensory, type ID, 613708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	ARHGEF10	Natalie Forrester reviewed gene: ARHGEF10: Rating: GREEN; Mode of pathogenicity: ; Publications: 14508709; Phenotypes: ?Slowed nerve conduction velocity, AD, 608236; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.58	APTX	Natalie Forrester reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: 11176957; Phenotypes: Hereditary Neuropathies, ATAXIA WITH OCULOMOTOR APRAXIA 1, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Apr 2019	Hereditary neuropathy v1.58	ANKRD1	Natalie Forrester reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	ALDH3A2	Natalie Forrester reviewed gene: ALDH3A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	AIFM1	Natalie Forrester reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 3856385; Phenotypes: Combined oxidative phosphorylation deficiency 6, Cowchock syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
29 Apr 2019	Hereditary neuropathy v1.58	ACTN2	Natalie Forrester reviewed gene: ACTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	ACTC1	Natalie Forrester reviewed gene: ACTC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	ABCC9	Natalie Forrester reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.58	AARS	Natalie Forrester reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 26032230, 26392352, 20045102; Phenotypes: Charcot-Marie-Tooth, Type 2 , Charcot Marie Tooth disease, axonal, type 2N, 613287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.57	ZFYVE27	Louise Daugherty Source NHS GMS was added to ZFYVE27.
29 Apr 2019	Hereditary neuropathy v1.57	ZFYVE26	Louise Daugherty Source NHS GMS was added to ZFYVE26.
29 Apr 2019	Hereditary neuropathy v1.57	WASHC5	Louise Daugherty Source NHS GMS was added to WASHC5.
29 Apr 2019	Hereditary neuropathy v1.57	VCL	Louise Daugherty Source NHS GMS was added to VCL.
29 Apr 2019	Hereditary neuropathy v1.57	TWNK	Louise Daugherty Source NHS GMS was added to TWNK.
29 Apr 2019	Hereditary neuropathy v1.57	TTPA	Louise Daugherty Source NHS GMS was added to TTPA.
29 Apr 2019	Hereditary neuropathy v1.57	TTN	Louise Daugherty Source NHS GMS was added to TTN.
29 Apr 2019	Hereditary neuropathy v1.57	TTBK2	Louise Daugherty Source NHS GMS was added to TTBK2.
29 Apr 2019	Hereditary neuropathy v1.57	TPM1	Louise Daugherty Source NHS GMS was added to TPM1.
29 Apr 2019	Hereditary neuropathy v1.57	TNNT2	Louise Daugherty Source NHS GMS was added to TNNT2.
29 Apr 2019	Hereditary neuropathy v1.57	TNNI3	Louise Daugherty Source NHS GMS was added to TNNI3.
29 Apr 2019	Hereditary neuropathy v1.57	TNNC1	Louise Daugherty Source NHS GMS was added to TNNC1.
29 Apr 2019	Hereditary neuropathy v1.57	TMEM43	Louise Daugherty Source NHS GMS was added to TMEM43.
29 Apr 2019	Hereditary neuropathy v1.57	TDP1	Louise Daugherty Source NHS GMS was added to TDP1.
29 Apr 2019	Hereditary neuropathy v1.57	TCAP	Louise Daugherty Source NHS GMS was added to TCAP.
29 Apr 2019	Hereditary neuropathy v1.57	TAZ	Louise Daugherty Source NHS GMS was added to TAZ.
29 Apr 2019	Hereditary neuropathy v1.57	SPTBN2	Louise Daugherty Source NHS GMS was added to SPTBN2.
29 Apr 2019	Hereditary neuropathy v1.57	SPG7	Louise Daugherty Source NHS GMS was added to SPG7.
29 Apr 2019	Hereditary neuropathy v1.57	SPG21	Louise Daugherty Source NHS GMS was added to SPG21.
29 Apr 2019	Hereditary neuropathy v1.57	SPART	Louise Daugherty Source NHS GMS was added to SPART.
29 Apr 2019	Hereditary neuropathy v1.57	SOX10	Louise Daugherty Source NHS GMS was added to SOX10.
29 Apr 2019	Hereditary neuropathy v1.57	SOS1	Louise Daugherty Source NHS GMS was added to SOS1.
29 Apr 2019	Hereditary neuropathy v1.57	SLC1A3	Louise Daugherty Source NHS GMS was added to SLC1A3.
29 Apr 2019	Hereditary neuropathy v1.57	SIL1	Louise Daugherty Source NHS GMS was added to SIL1.
29 Apr 2019	Hereditary neuropathy v1.57	SGCD	Louise Daugherty Source NHS GMS was added to SGCD.
29 Apr 2019	Hereditary neuropathy v1.57	SCN5A	Louise Daugherty Source NHS GMS was added to SCN5A.
29 Apr 2019	Hereditary neuropathy v1.57	RYR2	Louise Daugherty Source NHS GMS was added to RYR2.
29 Apr 2019	Hereditary neuropathy v1.57	RIT1	Louise Daugherty Source NHS GMS was added to RIT1.
29 Apr 2019	Hereditary neuropathy v1.57	RBM20	Louise Daugherty Source NHS GMS was added to RBM20.
29 Apr 2019	Hereditary neuropathy v1.57	RAF1	Louise Daugherty Source NHS GMS was added to RAF1.
29 Apr 2019	Hereditary neuropathy v1.57	PTPN11	Louise Daugherty Source NHS GMS was added to PTPN11.
29 Apr 2019	Hereditary neuropathy v1.57	PRKCG	Louise Daugherty Source NHS GMS was added to PRKCG.
29 Apr 2019	Hereditary neuropathy v1.57	PRKAG2	Louise Daugherty Source NHS GMS was added to PRKAG2.
29 Apr 2019	Hereditary neuropathy v1.57	PNPLA6	Louise Daugherty Source NHS GMS was added to PNPLA6.
29 Apr 2019	Hereditary neuropathy v1.57	PLP1	Louise Daugherty Source NHS GMS was added to PLP1.
29 Apr 2019	Hereditary neuropathy v1.57	PLN	Louise Daugherty Source NHS GMS was added to PLN.
29 Apr 2019	Hereditary neuropathy v1.57	PKP2	Louise Daugherty Source NHS GMS was added to PKP2.
29 Apr 2019	Hereditary neuropathy v1.57	PDLIM3	Louise Daugherty Source NHS GMS was added to PDLIM3.
29 Apr 2019	Hereditary neuropathy v1.57	PDK3	Louise Daugherty Source NHS GMS was added to PDK3.
29 Apr 2019	Hereditary neuropathy v1.57	NRAS	Louise Daugherty Source NHS GMS was added to NRAS.
29 Apr 2019	Hereditary neuropathy v1.57	NIPA1	Louise Daugherty Source NHS GMS was added to NIPA1.
29 Apr 2019	Hereditary neuropathy v1.57	NEXN	Louise Daugherty Source NHS GMS was added to NEXN.
29 Apr 2019	Hereditary neuropathy v1.57	NEBL	Louise Daugherty Source NHS GMS was added to NEBL.
29 Apr 2019	Hereditary neuropathy v1.57	NAGLU	Louise Daugherty Source NHS GMS was added to NAGLU.
29 Apr 2019	Hereditary neuropathy v1.57	MYPN	Louise Daugherty Source NHS GMS was added to MYPN.
29 Apr 2019	Hereditary neuropathy v1.57	MYOZ2	Louise Daugherty Source NHS GMS was added to MYOZ2.
29 Apr 2019	Hereditary neuropathy v1.57	MYL3	Louise Daugherty Source NHS GMS was added to MYL3.
29 Apr 2019	Hereditary neuropathy v1.57	MYL2	Louise Daugherty Source NHS GMS was added to MYL2.
29 Apr 2019	Hereditary neuropathy v1.57	MYH7	Louise Daugherty Source NHS GMS was added to MYH7.
29 Apr 2019	Hereditary neuropathy v1.57	MYH6	Louise Daugherty Source NHS GMS was added to MYH6.
29 Apr 2019	Hereditary neuropathy v1.57	MYH14	Louise Daugherty Source NHS GMS was added to MYH14.
29 Apr 2019	Hereditary neuropathy v1.57	MYBPC3	Louise Daugherty Source NHS GMS was added to MYBPC3.
29 Apr 2019	Hereditary neuropathy v1.57	MTTP	Louise Daugherty Source NHS GMS was added to MTTP.
29 Apr 2019	Hereditary neuropathy v1.57	MRE11	Louise Daugherty Source NHS GMS was added to MRE11.
29 Apr 2019	Hereditary neuropathy v1.57	MED25	Louise Daugherty Source NHS GMS was added to MED25.
29 Apr 2019	Hereditary neuropathy v1.57	MAP2K2	Louise Daugherty Source NHS GMS was added to MAP2K2.
29 Apr 2019	Hereditary neuropathy v1.57	MAP2K1	Louise Daugherty Source NHS GMS was added to MAP2K1.
29 Apr 2019	Hereditary neuropathy v1.57	LDB3	Louise Daugherty Source NHS GMS was added to LDB3.
29 Apr 2019	Hereditary neuropathy v1.57	LAS1L	Louise Daugherty Source NHS GMS was added to LAS1L.
29 Apr 2019	Hereditary neuropathy v1.57	LAMP2	Louise Daugherty Source NHS GMS was added to LAMP2.
29 Apr 2019	Hereditary neuropathy v1.57	LAMA4	Louise Daugherty Source NHS GMS was added to LAMA4.
29 Apr 2019	Hereditary neuropathy v1.57	L1CAM	Louise Daugherty Source NHS GMS was added to L1CAM.
29 Apr 2019	Hereditary neuropathy v1.57	KRAS	Louise Daugherty Source NHS GMS was added to KRAS.
29 Apr 2019	Hereditary neuropathy v1.57	KIF1B	Louise Daugherty Source NHS GMS was added to KIF1B.
29 Apr 2019	Hereditary neuropathy v1.57	KCNC3	Louise Daugherty Source NHS GMS was added to KCNC3.
29 Apr 2019	Hereditary neuropathy v1.57	KCNA1	Louise Daugherty Source NHS GMS was added to KCNA1.
29 Apr 2019	Hereditary neuropathy v1.57	KARS	Louise Daugherty Source NHS GMS was added to KARS.
29 Apr 2019	Hereditary neuropathy v1.57	JUP	Louise Daugherty Source NHS GMS was added to JUP.
29 Apr 2019	Hereditary neuropathy v1.57	JPH2	Louise Daugherty Source NHS GMS was added to JPH2.
29 Apr 2019	Hereditary neuropathy v1.57	ITPR1	Louise Daugherty Source NHS GMS was added to ITPR1.
29 Apr 2019	Hereditary neuropathy v1.57	HRAS	Louise Daugherty Source NHS GMS was added to HRAS.
29 Apr 2019	Hereditary neuropathy v1.57	HOXD10	Louise Daugherty Source NHS GMS was added to HOXD10.
29 Apr 2019	Hereditary neuropathy v1.57	HADHB	Louise Daugherty Source NHS GMS was added to HADHB.
29 Apr 2019	Hereditary neuropathy v1.57	HADHA	Louise Daugherty Source NHS GMS was added to HADHA.
29 Apr 2019	Hereditary neuropathy v1.57	GATAD1	Louise Daugherty Source NHS GMS was added to GATAD1.
29 Apr 2019	Hereditary neuropathy v1.57	GAA	Louise Daugherty Source NHS GMS was added to GAA.
29 Apr 2019	Hereditary neuropathy v1.57	FKTN	Louise Daugherty Source NHS GMS was added to FKTN.
29 Apr 2019	Hereditary neuropathy v1.57	FGF14	Louise Daugherty Source NHS GMS was added to FGF14.
29 Apr 2019	Hereditary neuropathy v1.57	EMD	Louise Daugherty Source NHS GMS was added to EMD.
29 Apr 2019	Hereditary neuropathy v1.57	DTNA	Louise Daugherty Source NHS GMS was added to DTNA.
29 Apr 2019	Hereditary neuropathy v1.57	DST	Louise Daugherty Source NHS GMS was added to DST.
29 Apr 2019	Hereditary neuropathy v1.57	DSP	Louise Daugherty Source NHS GMS was added to DSP.
29 Apr 2019	Hereditary neuropathy v1.57	DSG2	Louise Daugherty Source NHS GMS was added to DSG2.
29 Apr 2019	Hereditary neuropathy v1.57	DSC2	Louise Daugherty Source NHS GMS was added to DSC2.
29 Apr 2019	Hereditary neuropathy v1.57	DRP2	Louise Daugherty Source NHS GMS was added to DRP2.
29 Apr 2019	Hereditary neuropathy v1.57	DMD	Louise Daugherty Source NHS GMS was added to DMD.
29 Apr 2019	Hereditary neuropathy v1.57	DHTKD1	Louise Daugherty Source NHS GMS was added to DHTKD1.
29 Apr 2019	Hereditary neuropathy v1.57	DHH	Louise Daugherty Source NHS GMS was added to DHH.
29 Apr 2019	Hereditary neuropathy v1.57	DES	Louise Daugherty Source NHS GMS was added to DES.
29 Apr 2019	Hereditary neuropathy v1.57	DCAF8	Louise Daugherty Source NHS GMS was added to DCAF8.
29 Apr 2019	Hereditary neuropathy v1.57	CTDP1	Louise Daugherty Source NHS GMS was added to CTDP1.
29 Apr 2019	Hereditary neuropathy v1.57	CSRP3	Louise Daugherty Source NHS GMS was added to CSRP3.
29 Apr 2019	Hereditary neuropathy v1.57	CRYAB	Louise Daugherty Source NHS GMS was added to CRYAB.
29 Apr 2019	Hereditary neuropathy v1.57	COQ8A	Louise Daugherty Source NHS GMS was added to COQ8A.
29 Apr 2019	Hereditary neuropathy v1.57	CLTCL1	Louise Daugherty Source NHS GMS was added to CLTCL1.
29 Apr 2019	Hereditary neuropathy v1.57	CAV3	Louise Daugherty Source NHS GMS was added to CAV3.
29 Apr 2019	Hereditary neuropathy v1.57	CASQ2	Louise Daugherty Source NHS GMS was added to CASQ2.
29 Apr 2019	Hereditary neuropathy v1.57	CACNB4	Louise Daugherty Source NHS GMS was added to CACNB4.
29 Apr 2019	Hereditary neuropathy v1.57	BRAF	Louise Daugherty Source NHS GMS was added to BRAF.
29 Apr 2019	Hereditary neuropathy v1.57	BAG3	Louise Daugherty Source NHS GMS was added to BAG3.
29 Apr 2019	Hereditary neuropathy v1.57	ANKRD1	Louise Daugherty Source NHS GMS was added to ANKRD1.
29 Apr 2019	Hereditary neuropathy v1.57	ALDH3A2	Louise Daugherty Source NHS GMS was added to ALDH3A2.
29 Apr 2019	Hereditary neuropathy v1.57	ACTN2	Louise Daugherty Source NHS GMS was added to ACTN2.
29 Apr 2019	Hereditary neuropathy v1.57	ACTC1	Louise Daugherty Source NHS GMS was added to ACTC1.
29 Apr 2019	Hereditary neuropathy v1.57	ABCC9	Louise Daugherty Source NHS GMS was added to ABCC9.
29 Apr 2019	Hereditary neuropathy v1.56	ZFYVE27	Louise Daugherty Source South West GLH was added to ZFYVE27.
29 Apr 2019	Hereditary neuropathy v1.56	ZFYVE26	Louise Daugherty Source South West GLH was added to ZFYVE26.
29 Apr 2019	Hereditary neuropathy v1.56	YARS	Louise Daugherty Source South West GLH was added to YARS.
29 Apr 2019	Hereditary neuropathy v1.56	WNK1	Louise Daugherty Source South West GLH was added to WNK1.
29 Apr 2019	Hereditary neuropathy v1.56	WASHC5	Louise Daugherty Source South West GLH was added to WASHC5.
29 Apr 2019	Hereditary neuropathy v1.56	VCL	Louise Daugherty Source South West GLH was added to VCL.
29 Apr 2019	Hereditary neuropathy v1.56	TWNK	Louise Daugherty Source South West GLH was added to TWNK.
29 Apr 2019	Hereditary neuropathy v1.56	TTPA	Louise Daugherty Source South West GLH was added to TTPA.
29 Apr 2019	Hereditary neuropathy v1.56	TTN	Louise Daugherty Source South West GLH was added to TTN.
29 Apr 2019	Hereditary neuropathy v1.56	TTBK2	Louise Daugherty Source South West GLH was added to TTBK2.
29 Apr 2019	Hereditary neuropathy v1.56	TRPV4	Louise Daugherty Source South West GLH was added to TRPV4.
29 Apr 2019	Hereditary neuropathy v1.56	TRIM2	Louise Daugherty Source South West GLH was added to TRIM2.
29 Apr 2019	Hereditary neuropathy v1.56	TPM1	Louise Daugherty Source South West GLH was added to TPM1.
29 Apr 2019	Hereditary neuropathy v1.56	TNNT2	Louise Daugherty Source South West GLH was added to TNNT2.
29 Apr 2019	Hereditary neuropathy v1.56	TNNI3	Louise Daugherty Source South West GLH was added to TNNI3.
29 Apr 2019	Hereditary neuropathy v1.56	TNNC1	Louise Daugherty Source South West GLH was added to TNNC1.
29 Apr 2019	Hereditary neuropathy v1.56	TMEM43	Louise Daugherty Source South West GLH was added to TMEM43.
29 Apr 2019	Hereditary neuropathy v1.56	TDP1	Louise Daugherty Source South West GLH was added to TDP1.
29 Apr 2019	Hereditary neuropathy v1.56	TCAP	Louise Daugherty Source South West GLH was added to TCAP.
29 Apr 2019	Hereditary neuropathy v1.56	TAZ	Louise Daugherty Source South West GLH was added to TAZ.
29 Apr 2019	Hereditary neuropathy v1.56	SYT2	Louise Daugherty Source South West GLH was added to SYT2.
29 Apr 2019	Hereditary neuropathy v1.56	SPTLC2	Louise Daugherty Source South West GLH was added to SPTLC2.
29 Apr 2019	Hereditary neuropathy v1.56	SPTLC1	Louise Daugherty Source South West GLH was added to SPTLC1.
29 Apr 2019	Hereditary neuropathy v1.56	SPTBN2	Louise Daugherty Source South West GLH was added to SPTBN2.
29 Apr 2019	Hereditary neuropathy v1.56	SPG7	Louise Daugherty Source South West GLH was added to SPG7.
29 Apr 2019	Hereditary neuropathy v1.56	SPG21	Louise Daugherty Source South West GLH was added to SPG21.
29 Apr 2019	Hereditary neuropathy v1.56	SPART	Louise Daugherty Source South West GLH was added to SPART.
29 Apr 2019	Hereditary neuropathy v1.56	SOX10	Louise Daugherty Source South West GLH was added to SOX10.
29 Apr 2019	Hereditary neuropathy v1.56	SOS1	Louise Daugherty Source South West GLH was added to SOS1.
29 Apr 2019	Hereditary neuropathy v1.56	SLC5A7	Louise Daugherty Source South West GLH was added to SLC5A7.
29 Apr 2019	Hereditary neuropathy v1.56	SLC52A1	Louise Daugherty Source South West GLH was added to SLC52A1.
29 Apr 2019	Hereditary neuropathy v1.56	SLC1A3	Louise Daugherty Source South West GLH was added to SLC1A3.
29 Apr 2019	Hereditary neuropathy v1.56	SLC12A6	Louise Daugherty Source South West GLH was added to SLC12A6.
29 Apr 2019	Hereditary neuropathy v1.56	SIL1	Louise Daugherty Source South West GLH was added to SIL1.
29 Apr 2019	Hereditary neuropathy v1.56	SH3TC2	Louise Daugherty Source South West GLH was added to SH3TC2.
29 Apr 2019	Hereditary neuropathy v1.56	SGCD	Louise Daugherty Source South West GLH was added to SGCD.
29 Apr 2019	Hereditary neuropathy v1.56	SEPT9	Louise Daugherty Source South West GLH was added to SEPT9.
29 Apr 2019	Hereditary neuropathy v1.56	SCN9A	Louise Daugherty Source South West GLH was added to SCN9A.
29 Apr 2019	Hereditary neuropathy v1.56	SCN5A	Louise Daugherty Source South West GLH was added to SCN5A.
29 Apr 2019	Hereditary neuropathy v1.56	SBF2	Louise Daugherty Source South West GLH was added to SBF2.
29 Apr 2019	Hereditary neuropathy v1.56	SBF1	Louise Daugherty Source South West GLH was added to SBF1.
29 Apr 2019	Hereditary neuropathy v1.56	RYR2	Louise Daugherty Source South West GLH was added to RYR2.
29 Apr 2019	Hereditary neuropathy v1.56	RIT1	Louise Daugherty Source South West GLH was added to RIT1.
29 Apr 2019	Hereditary neuropathy v1.56	RETREG1	Louise Daugherty Source South West GLH was added to RETREG1.
29 Apr 2019	Hereditary neuropathy v1.56	REEP1	Louise Daugherty Source South West GLH was added to REEP1.
29 Apr 2019	Hereditary neuropathy v1.56	RBM20	Louise Daugherty Source South West GLH was added to RBM20.
29 Apr 2019	Hereditary neuropathy v1.56	RAF1	Louise Daugherty Source South West GLH was added to RAF1.
29 Apr 2019	Hereditary neuropathy v1.56	RAB7A	Louise Daugherty Source South West GLH was added to RAB7A.
29 Apr 2019	Hereditary neuropathy v1.56	PTPN11	Louise Daugherty Source South West GLH was added to PTPN11.
29 Apr 2019	Hereditary neuropathy v1.56	PRX	Louise Daugherty Source South West GLH was added to PRX.
29 Apr 2019	Hereditary neuropathy v1.56	PRPS1	Louise Daugherty Source South West GLH was added to PRPS1.
29 Apr 2019	Hereditary neuropathy v1.56	PRKCG	Louise Daugherty Source South West GLH was added to PRKCG.
29 Apr 2019	Hereditary neuropathy v1.56	PRKAG2	Louise Daugherty Source South West GLH was added to PRKAG2.
29 Apr 2019	Hereditary neuropathy v1.56	PNPLA6	Louise Daugherty Source South West GLH was added to PNPLA6.
29 Apr 2019	Hereditary neuropathy v1.56	PMP22	Louise Daugherty Source South West GLH was added to PMP22.
29 Apr 2019	Hereditary neuropathy v1.56	PLP1	Louise Daugherty Source South West GLH was added to PLP1.
29 Apr 2019	Hereditary neuropathy v1.56	PLN	Louise Daugherty Source South West GLH was added to PLN.
29 Apr 2019	Hereditary neuropathy v1.56	PLEKHG5	Louise Daugherty Source South West GLH was added to PLEKHG5.
29 Apr 2019	Hereditary neuropathy v1.56	PKP2	Louise Daugherty Source South West GLH was added to PKP2.
29 Apr 2019	Hereditary neuropathy v1.56	PDLIM3	Louise Daugherty Source South West GLH was added to PDLIM3.
29 Apr 2019	Hereditary neuropathy v1.56	PDK3	Louise Daugherty Source South West GLH was added to PDK3.
29 Apr 2019	Hereditary neuropathy v1.56	NTRK1	Louise Daugherty Source South West GLH was added to NTRK1.
29 Apr 2019	Hereditary neuropathy v1.56	NRAS	Louise Daugherty Source South West GLH was added to NRAS.
29 Apr 2019	Hereditary neuropathy v1.56	NIPA1	Louise Daugherty Source South West GLH was added to NIPA1.
29 Apr 2019	Hereditary neuropathy v1.56	NGF	Louise Daugherty Source South West GLH was added to NGF.
29 Apr 2019	Hereditary neuropathy v1.56	NEXN	Louise Daugherty Source South West GLH was added to NEXN.
29 Apr 2019	Hereditary neuropathy v1.56	NEFL	Louise Daugherty Source South West GLH was added to NEFL.
29 Apr 2019	Hereditary neuropathy v1.56	NEBL	Louise Daugherty Source South West GLH was added to NEBL.
29 Apr 2019	Hereditary neuropathy v1.56	NDRG1	Louise Daugherty Source South West GLH was added to NDRG1.
29 Apr 2019	Hereditary neuropathy v1.56	NAGLU	Louise Daugherty Source South West GLH was added to NAGLU.
29 Apr 2019	Hereditary neuropathy v1.56	MYPN	Louise Daugherty Source South West GLH was added to MYPN.
29 Apr 2019	Hereditary neuropathy v1.56	MYOZ2	Louise Daugherty Source South West GLH was added to MYOZ2.
29 Apr 2019	Hereditary neuropathy v1.56	MYL3	Louise Daugherty Source South West GLH was added to MYL3.
29 Apr 2019	Hereditary neuropathy v1.56	MYL2	Louise Daugherty Source South West GLH was added to MYL2.
29 Apr 2019	Hereditary neuropathy v1.56	MYH7	Louise Daugherty Source South West GLH was added to MYH7.
29 Apr 2019	Hereditary neuropathy v1.56	MYH6	Louise Daugherty Source South West GLH was added to MYH6.
29 Apr 2019	Hereditary neuropathy v1.56	MYH14	Louise Daugherty Source South West GLH was added to MYH14.
29 Apr 2019	Hereditary neuropathy v1.56	MYBPC3	Louise Daugherty Source South West GLH was added to MYBPC3.
29 Apr 2019	Hereditary neuropathy v1.56	MTTP	Louise Daugherty Source South West GLH was added to MTTP.
29 Apr 2019	Hereditary neuropathy v1.56	MTMR2	Louise Daugherty Source South West GLH was added to MTMR2.
29 Apr 2019	Hereditary neuropathy v1.56	MRE11	Louise Daugherty Source South West GLH was added to MRE11.
29 Apr 2019	Hereditary neuropathy v1.56	MPZ	Louise Daugherty Source South West GLH was added to MPZ.
29 Apr 2019	Hereditary neuropathy v1.56	MORC2	Louise Daugherty Source South West GLH was added to MORC2.
29 Apr 2019	Hereditary neuropathy v1.56	MFN2	Louise Daugherty Source South West GLH was added to MFN2.
29 Apr 2019	Hereditary neuropathy v1.56	MED25	Louise Daugherty Source South West GLH was added to MED25.
29 Apr 2019	Hereditary neuropathy v1.56	MARS	Louise Daugherty Source South West GLH was added to MARS.
29 Apr 2019	Hereditary neuropathy v1.56	MAP2K2	Louise Daugherty Source South West GLH was added to MAP2K2.
29 Apr 2019	Hereditary neuropathy v1.56	MAP2K1	Louise Daugherty Source South West GLH was added to MAP2K1.
29 Apr 2019	Hereditary neuropathy v1.56	LRSAM1	Louise Daugherty Source South West GLH was added to LRSAM1.
29 Apr 2019	Hereditary neuropathy v1.56	LMNA	Louise Daugherty Source South West GLH was added to LMNA.
29 Apr 2019	Hereditary neuropathy v1.56	LITAF	Louise Daugherty Source South West GLH was added to LITAF.
29 Apr 2019	Hereditary neuropathy v1.56	LDB3	Louise Daugherty Source South West GLH was added to LDB3.
29 Apr 2019	Hereditary neuropathy v1.56	LAS1L	Louise Daugherty Source South West GLH was added to LAS1L.
29 Apr 2019	Hereditary neuropathy v1.56	LAMP2	Louise Daugherty Source South West GLH was added to LAMP2.
29 Apr 2019	Hereditary neuropathy v1.56	LAMA4	Louise Daugherty Source South West GLH was added to LAMA4.
29 Apr 2019	Hereditary neuropathy v1.56	L1CAM	Louise Daugherty Source South West GLH was added to L1CAM.
29 Apr 2019	Hereditary neuropathy v1.56	KRAS	Louise Daugherty Source South West GLH was added to KRAS.
29 Apr 2019	Hereditary neuropathy v1.56	KIF1B	Louise Daugherty Source South West GLH was added to KIF1B.
29 Apr 2019	Hereditary neuropathy v1.56	KCNC3	Louise Daugherty Source South West GLH was added to KCNC3.
29 Apr 2019	Hereditary neuropathy v1.56	KCNA1	Louise Daugherty Source South West GLH was added to KCNA1.
29 Apr 2019	Hereditary neuropathy v1.56	KARS	Louise Daugherty Source South West GLH was added to KARS.
29 Apr 2019	Hereditary neuropathy v1.56	JUP	Louise Daugherty Source South West GLH was added to JUP.
29 Apr 2019	Hereditary neuropathy v1.56	JPH2	Louise Daugherty Source South West GLH was added to JPH2.
29 Apr 2019	Hereditary neuropathy v1.56	ITPR1	Louise Daugherty Source South West GLH was added to ITPR1.
29 Apr 2019	Hereditary neuropathy v1.56	IGHMBP2	Louise Daugherty Source South West GLH was added to IGHMBP2.
29 Apr 2019	Hereditary neuropathy v1.56	HSPB8	Louise Daugherty Source South West GLH was added to HSPB8.
29 Apr 2019	Hereditary neuropathy v1.56	HSPB3	Louise Daugherty Source South West GLH was added to HSPB3.
29 Apr 2019	Hereditary neuropathy v1.56	HSPB1	Louise Daugherty Source South West GLH was added to HSPB1.
29 Apr 2019	Hereditary neuropathy v1.56	HRAS	Louise Daugherty Source South West GLH was added to HRAS.
29 Apr 2019	Hereditary neuropathy v1.56	HOXD10	Louise Daugherty Source South West GLH was added to HOXD10.
29 Apr 2019	Hereditary neuropathy v1.56	HADHB	Louise Daugherty Source South West GLH was added to HADHB.
29 Apr 2019	Hereditary neuropathy v1.56	HADHA	Louise Daugherty Source South West GLH was added to HADHA.
29 Apr 2019	Hereditary neuropathy v1.56	GNB4	Louise Daugherty Source South West GLH was added to GNB4.
29 Apr 2019	Hereditary neuropathy v1.56	GJB1	Louise Daugherty Source South West GLH was added to GJB1.
29 Apr 2019	Hereditary neuropathy v1.56	GDAP1	Louise Daugherty Source South West GLH was added to GDAP1.
29 Apr 2019	Hereditary neuropathy v1.56	GATAD1	Louise Daugherty Source South West GLH was added to GATAD1.
29 Apr 2019	Hereditary neuropathy v1.56	GARS	Louise Daugherty Source South West GLH was added to GARS.
29 Apr 2019	Hereditary neuropathy v1.56	GAN	Louise Daugherty Source South West GLH was added to GAN.
29 Apr 2019	Hereditary neuropathy v1.56	GAA	Louise Daugherty Source South West GLH was added to GAA.
29 Apr 2019	Hereditary neuropathy v1.56	FXN	Louise Daugherty Source South West GLH was added to FXN.
29 Apr 2019	Hereditary neuropathy v1.56	FKTN	Louise Daugherty Source South West GLH was added to FKTN.
29 Apr 2019	Hereditary neuropathy v1.56	FIG4	Louise Daugherty Source South West GLH was added to FIG4.
29 Apr 2019	Hereditary neuropathy v1.56	FGF14	Louise Daugherty Source South West GLH was added to FGF14.
29 Apr 2019	Hereditary neuropathy v1.56	FGD4	Louise Daugherty Source South West GLH was added to FGD4.
29 Apr 2019	Hereditary neuropathy v1.56	FBXO38	Louise Daugherty Source South West GLH was added to FBXO38.
29 Apr 2019	Hereditary neuropathy v1.56	EMD	Louise Daugherty Source South West GLH was added to EMD.
29 Apr 2019	Hereditary neuropathy v1.56	ELP1	Louise Daugherty Source South West GLH was added to ELP1.
29 Apr 2019	Hereditary neuropathy v1.56	EGR2	Louise Daugherty Source South West GLH was added to EGR2.
29 Apr 2019	Hereditary neuropathy v1.56	DYNC1H1	Louise Daugherty Source South West GLH was added to DYNC1H1.
29 Apr 2019	Hereditary neuropathy v1.56	DTNA	Louise Daugherty Source South West GLH was added to DTNA.
29 Apr 2019	Hereditary neuropathy v1.56	DST	Louise Daugherty Source South West GLH was added to DST.
29 Apr 2019	Hereditary neuropathy v1.56	DSP	Louise Daugherty Source South West GLH was added to DSP.
29 Apr 2019	Hereditary neuropathy v1.56	DSG2	Louise Daugherty Source South West GLH was added to DSG2.
29 Apr 2019	Hereditary neuropathy v1.56	DSC2	Louise Daugherty Source South West GLH was added to DSC2.
29 Apr 2019	Hereditary neuropathy v1.56	DRP2	Louise Daugherty Source South West GLH was added to DRP2.
29 Apr 2019	Hereditary neuropathy v1.56	DNMT1	Louise Daugherty Source South West GLH was added to DNMT1.
29 Apr 2019	Hereditary neuropathy v1.56	DNM2	Louise Daugherty Source South West GLH was added to DNM2.
29 Apr 2019	Hereditary neuropathy v1.56	DNAJB2	Louise Daugherty Source South West GLH was added to DNAJB2.
29 Apr 2019	Hereditary neuropathy v1.56	DMD	Louise Daugherty Source South West GLH was added to DMD.
29 Apr 2019	Hereditary neuropathy v1.56	DHTKD1	Louise Daugherty Source South West GLH was added to DHTKD1.
29 Apr 2019	Hereditary neuropathy v1.56	DHH	Louise Daugherty Source South West GLH was added to DHH.
29 Apr 2019	Hereditary neuropathy v1.56	DES	Louise Daugherty Source South West GLH was added to DES.
29 Apr 2019	Hereditary neuropathy v1.56	DCTN1	Louise Daugherty Source South West GLH was added to DCTN1.
29 Apr 2019	Hereditary neuropathy v1.56	DCAF8	Louise Daugherty Source South West GLH was added to DCAF8.
29 Apr 2019	Hereditary neuropathy v1.56	CTDP1	Louise Daugherty Source South West GLH was added to CTDP1.
29 Apr 2019	Hereditary neuropathy v1.56	CSRP3	Louise Daugherty Source South West GLH was added to CSRP3.
29 Apr 2019	Hereditary neuropathy v1.56	CRYAB	Louise Daugherty Source South West GLH was added to CRYAB.
29 Apr 2019	Hereditary neuropathy v1.56	COX6A1	Louise Daugherty Source South West GLH was added to COX6A1.
29 Apr 2019	Hereditary neuropathy v1.56	COQ8A	Louise Daugherty Source South West GLH was added to COQ8A.
29 Apr 2019	Hereditary neuropathy v1.56	CLTCL1	Louise Daugherty Source South West GLH was added to CLTCL1.
29 Apr 2019	Hereditary neuropathy v1.56	CHCHD10	Louise Daugherty Source South West GLH was added to CHCHD10.
29 Apr 2019	Hereditary neuropathy v1.56	CCT5	Louise Daugherty Source South West GLH was added to CCT5.
29 Apr 2019	Hereditary neuropathy v1.56	CAV3	Louise Daugherty Source South West GLH was added to CAV3.
29 Apr 2019	Hereditary neuropathy v1.56	CASQ2	Louise Daugherty Source South West GLH was added to CASQ2.
29 Apr 2019	Hereditary neuropathy v1.56	CACNB4	Louise Daugherty Source South West GLH was added to CACNB4.
29 Apr 2019	Hereditary neuropathy v1.56	C12orf65	Louise Daugherty Source South West GLH was added to C12orf65.
29 Apr 2019	Hereditary neuropathy v1.56	BSCL2	Louise Daugherty Source South West GLH was added to BSCL2.
29 Apr 2019	Hereditary neuropathy v1.56	BRAF	Louise Daugherty Source South West GLH was added to BRAF.
29 Apr 2019	Hereditary neuropathy v1.56	BICD2	Louise Daugherty Source South West GLH was added to BICD2.
29 Apr 2019	Hereditary neuropathy v1.56	BAG3	Louise Daugherty Source South West GLH was added to BAG3.
29 Apr 2019	Hereditary neuropathy v1.56	ATP7A	Louise Daugherty Source South West GLH was added to ATP7A.
29 Apr 2019	Hereditary neuropathy v1.56	ATM	Louise Daugherty Source South West GLH was added to ATM.
29 Apr 2019	Hereditary neuropathy v1.56	ATL3	Louise Daugherty Source South West GLH was added to ATL3.
29 Apr 2019	Hereditary neuropathy v1.56	ATL1	Louise Daugherty Source South West GLH was added to ATL1.
29 Apr 2019	Hereditary neuropathy v1.56	ARHGEF10	Louise Daugherty Source South West GLH was added to ARHGEF10.
29 Apr 2019	Hereditary neuropathy v1.56	APTX	Louise Daugherty Source South West GLH was added to APTX.
29 Apr 2019	Hereditary neuropathy v1.56	ANKRD1	Louise Daugherty Source South West GLH was added to ANKRD1.
29 Apr 2019	Hereditary neuropathy v1.56	ALDH3A2	Louise Daugherty Source South West GLH was added to ALDH3A2.
29 Apr 2019	Hereditary neuropathy v1.56	AIFM1	Louise Daugherty Source South West GLH was added to AIFM1.
29 Apr 2019	Hereditary neuropathy v1.56	ACTN2	Louise Daugherty Source South West GLH was added to ACTN2.
29 Apr 2019	Hereditary neuropathy v1.56	ACTC1	Louise Daugherty Source South West GLH was added to ACTC1.
29 Apr 2019	Hereditary neuropathy v1.56	ABCC9	Louise Daugherty Source South West GLH was added to ABCC9.
29 Apr 2019	Hereditary neuropathy v1.56	AARS	Louise Daugherty Source South West GLH was added to AARS.
29 Apr 2019	Hereditary neuropathy v1.55	ISCA-37436-Loss	Louise Daugherty reviewed Region: ISCA-37436-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
29 Apr 2019	Hereditary neuropathy v1.55	ISCA-37436-Gain	Louise Daugherty reviewed Region: ISCA-37436-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
29 Apr 2019	Hereditary neuropathy v1.55	ATXN3_CAG	Louise Daugherty reviewed STR: ATXN3_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
29 Apr 2019	Hereditary neuropathy v1.55	ATXN2_CAG	Louise Daugherty reviewed STR: ATXN2_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
29 Apr 2019	Hereditary neuropathy v1.55	ATXN1_CAG	Louise Daugherty reviewed STR: ATXN1_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
29 Apr 2019	Hereditary neuropathy v1.55	ATXN10_ATTCT	Louise Daugherty reviewed STR: ATXN10_ATTCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
29 Apr 2019	Hereditary neuropathy v1.55	YARS	Louise Daugherty reviewed gene: YARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	WNK1	Louise Daugherty reviewed gene: WNK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	WARS	Louise Daugherty reviewed gene: WARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	VCP	Louise Daugherty reviewed gene: VCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	TYMP	Louise Daugherty reviewed gene: TYMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	TUBB3	Louise Daugherty reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	TTR	Louise Daugherty reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	TRPV4	Louise Daugherty edited their review of gene: TRPV4: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
29 Apr 2019	Hereditary neuropathy v1.55	TRPA1	Louise Daugherty reviewed gene: TRPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	TRIM2	Louise Daugherty reviewed gene: TRIM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	TFG	Louise Daugherty reviewed gene: TFG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SYT2	Louise Daugherty reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SURF1	Louise Daugherty reviewed gene: SURF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SPTLC2	Louise Daugherty reviewed gene: SPTLC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SPTLC1	Louise Daugherty reviewed gene: SPTLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SPG11	Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SPAST	Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SMN1	Louise Daugherty reviewed gene: SMN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SLC5A7	Louise Daugherty reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SLC52A3	Louise Daugherty reviewed gene: SLC52A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SLC52A2	Louise Daugherty reviewed gene: SLC52A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SLC52A1	Louise Daugherty reviewed gene: SLC52A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SLC12A6	Louise Daugherty reviewed gene: SLC12A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SIGMAR1	Louise Daugherty reviewed gene: SIGMAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SH3TC2	Louise Daugherty reviewed gene: SH3TC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SETX	Louise Daugherty reviewed gene: SETX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SEPT9	Louise Daugherty reviewed gene: SEPT9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SCN9A	Louise Daugherty reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SCN11A	Louise Daugherty reviewed gene: SCN11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SCN10A	Louise Daugherty reviewed gene: SCN10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SBF2	Louise Daugherty reviewed gene: SBF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SBF1	Louise Daugherty reviewed gene: SBF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	SACS	Louise Daugherty reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	RETREG1	Louise Daugherty edited their review of gene: RETREG1: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
29 Apr 2019	Hereditary neuropathy v1.55	REEP1	Louise Daugherty reviewed gene: REEP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	RAB7A	Louise Daugherty reviewed gene: RAB7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	PRX	Louise Daugherty reviewed gene: PRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	PRPS1	Louise Daugherty reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	PRNP	Louise Daugherty reviewed gene: PRNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	PRDM12	Louise Daugherty reviewed gene: PRDM12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	POLG	Louise Daugherty reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	PMP22	Louise Daugherty reviewed gene: PMP22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	PMP2	Louise Daugherty reviewed gene: PMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	PLEKHG5	Louise Daugherty reviewed gene: PLEKHG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	PHYH	Louise Daugherty reviewed gene: PHYH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	PEX7	Louise Daugherty reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	PDHA1	Louise Daugherty reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	NTRK1	Louise Daugherty reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	NGF	Louise Daugherty reviewed gene: NGF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	NEFL	Louise Daugherty reviewed gene: NEFL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	NEFH	Louise Daugherty reviewed gene: NEFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	NDRG1	Louise Daugherty reviewed gene: NDRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	MTMR2	Louise Daugherty reviewed gene: MTMR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	MT-ATP6	Louise Daugherty reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	MPZ	Louise Daugherty reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	MPV17	Louise Daugherty reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	MORC2	Louise Daugherty reviewed gene: MORC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	MME	Louise Daugherty edited their review of gene: MME: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
29 Apr 2019	Hereditary neuropathy v1.55	MFN2	Louise Daugherty reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	MCM3AP	Louise Daugherty reviewed gene: MCM3AP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	MARS	Louise Daugherty reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	LRSAM1	Louise Daugherty reviewed gene: LRSAM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	LMNA	Louise Daugherty reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	LITAF	Louise Daugherty reviewed gene: LITAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	KIF5A	Louise Daugherty reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	KIF1A	Louise Daugherty reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	INF2	Louise Daugherty reviewed gene: INF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	IGHMBP2	Louise Daugherty reviewed gene: IGHMBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	HSPB8	Louise Daugherty reviewed gene: HSPB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	HSPB3	Louise Daugherty reviewed gene: HSPB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	HSPB1	Louise Daugherty reviewed gene: HSPB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	HK1	Louise Daugherty reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	HINT1	Louise Daugherty reviewed gene: HINT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	HARS	Louise Daugherty reviewed gene: HARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	GNB4	Louise Daugherty reviewed gene: GNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	GLA	Louise Daugherty reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	GJB1	Louise Daugherty reviewed gene: GJB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	GDAP1	Louise Daugherty reviewed gene: GDAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	GARS	Louise Daugherty reviewed gene: GARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	GAN	Louise Daugherty reviewed gene: GAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	FXN	Louise Daugherty reviewed gene: FXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	FIG4	Louise Daugherty reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	FGD4	Louise Daugherty reviewed gene: FGD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	FBXO38	Louise Daugherty reviewed gene: FBXO38: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	FBLN5	Louise Daugherty reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	ELP1	Louise Daugherty edited their review of gene: ELP1: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
29 Apr 2019	Hereditary neuropathy v1.55	EGR2	Louise Daugherty reviewed gene: EGR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	DYNC1H1	Louise Daugherty reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	DNMT1	Louise Daugherty reviewed gene: DNMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	DNM2	Louise Daugherty reviewed gene: DNM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	DNAJB2	Louise Daugherty reviewed gene: DNAJB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	DCTN1	Louise Daugherty reviewed gene: DCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	COX6A1	Louise Daugherty reviewed gene: COX6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	CNTNAP1	Louise Daugherty reviewed gene: CNTNAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	CHCHD10	Louise Daugherty reviewed gene: CHCHD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	CCT5	Louise Daugherty reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	C12orf65	Louise Daugherty reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	BSCL2	Louise Daugherty reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	BICD2	Louise Daugherty reviewed gene: BICD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	ATP7A	Louise Daugherty reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	ATP1A1	Louise Daugherty reviewed gene: ATP1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	ATM	Louise Daugherty reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	ATL3	Louise Daugherty reviewed gene: ATL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	ATL1	Louise Daugherty reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	ARHGEF10	Louise Daugherty reviewed gene: ARHGEF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	APTX	Louise Daugherty reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	AIFM1	Louise Daugherty reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.55	AARS	Louise Daugherty reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.54	ATP1A1	Louise Daugherty Phenotypes for gene: ATP1A1 were changed from to Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
29 Apr 2019	Hereditary neuropathy v1.53	ATP1A1	Louise Daugherty Publications for gene: ATP1A1 were set to
29 Apr 2019	Hereditary neuropathy v1.52	YARS	James Polke reviewed gene: YARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	WNK1	James Polke reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	WARS	James Polke reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	VCP	James Polke reviewed gene: VCP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	TYMP	James Polke reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	TUBB3	James Polke reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	TTR	James Polke reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	TRPV4	James Polke reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	TRPA1	James Polke reviewed gene: TRPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	TRIM2	James Polke reviewed gene: TRIM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	TFG	James Polke reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	SYT2	James Polke reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	SURF1	James Polke reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	SPTLC2	James Polke reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	SPTLC1	James Polke reviewed gene: SPTLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	SPG11	James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	SPAST	James Polke reviewed gene: SPAST: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	SMN1	James Polke reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	SLC5A7	James Polke reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	SLC52A3	James Polke reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	SLC52A2	James Polke reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	SLC52A1	James Polke reviewed gene: SLC52A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	SLC12A6	James Polke reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	SIGMAR1	James Polke reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	SH3TC2	James Polke reviewed gene: SH3TC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	SETX	James Polke reviewed gene: SETX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	SEPT9	James Polke reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	SCN9A	James Polke reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	SCN11A	James Polke reviewed gene: SCN11A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	SCN10A	James Polke reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	SBF2	James Polke reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	SBF1	James Polke reviewed gene: SBF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	SACS	James Polke reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	RETREG1	James Polke reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	REEP1	James Polke reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	RAB7A	James Polke reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	PRX	James Polke reviewed gene: PRX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	PRPS1	James Polke reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	PRNP	James Polke reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	PRDM12	James Polke reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	POLG	James Polke reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	PMP22	James Polke reviewed gene: PMP22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	PMP2	James Polke reviewed gene: PMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	PLEKHG5	James Polke reviewed gene: PLEKHG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	PHYH	James Polke reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	PEX7	James Polke reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	PDHA1	James Polke reviewed gene: PDHA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	NTRK1	James Polke reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	NGF	James Polke reviewed gene: NGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	NEFL	James Polke reviewed gene: NEFL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	NEFH	James Polke reviewed gene: NEFH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	NDRG1	James Polke reviewed gene: NDRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	MTMR2	James Polke reviewed gene: MTMR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	MT-ATP6	James Polke reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	MPZ	James Polke reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	MPV17	James Polke reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	MORC2	James Polke reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	MME	James Polke reviewed gene: MME: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	MFN2	James Polke reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	MCM3AP	James Polke reviewed gene: MCM3AP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	MARS	James Polke reviewed gene: MARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	LRSAM1	James Polke reviewed gene: LRSAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	LMNA	James Polke reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	LITAF	James Polke reviewed gene: LITAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	KIF5A	James Polke reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	KIF1A	James Polke reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	INF2	James Polke reviewed gene: INF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	IGHMBP2	James Polke reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	HSPB8	James Polke reviewed gene: HSPB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	HSPB3	James Polke reviewed gene: HSPB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	HSPB1	James Polke reviewed gene: HSPB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	HK1	James Polke reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	HINT1	James Polke reviewed gene: HINT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	HARS	James Polke reviewed gene: HARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	GNB4	James Polke reviewed gene: GNB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	GLA	James Polke reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	GJB1	James Polke reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	GDAP1	James Polke reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	GARS	James Polke reviewed gene: GARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	GAN	James Polke reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	FXN	James Polke reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	FIG4	James Polke reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	FGD4	James Polke reviewed gene: FGD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	FBXO38	James Polke reviewed gene: FBXO38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	FBLN5	James Polke reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	ELP1	James Polke reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	EGR2	James Polke reviewed gene: EGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	DYNC1H1	James Polke reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	DNMT1	James Polke reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	DNM2	James Polke reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	DNAJB2	James Polke reviewed gene: DNAJB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	DCTN1	James Polke reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	COX6A1	James Polke reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	CNTNAP1	James Polke reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	CHCHD10	James Polke reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	CCT5	James Polke reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	C12orf65	James Polke reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	BSCL2	James Polke reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	BICD2	James Polke reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	ATP7A	James Polke reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	ATP1A1	James Polke reviewed gene: ATP1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29499166; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2DD, 618036; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	ATM	James Polke reviewed gene: ATM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	ATL3	James Polke reviewed gene: ATL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	ATL1	James Polke reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.52	ARHGEF10	James Polke reviewed gene: ARHGEF10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	APTX	James Polke reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	AIFM1	James Polke reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Apr 2019	Hereditary neuropathy v1.52	AARS	James Polke reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
29 Apr 2019	Hereditary neuropathy v1.51	YARS	Louise Daugherty Source NHS GMS was added to YARS.
29 Apr 2019	Hereditary neuropathy v1.51	WNK1	Louise Daugherty Source NHS GMS was added to WNK1.
29 Apr 2019	Hereditary neuropathy v1.51	WARS	Louise Daugherty Source NHS GMS was added to WARS.
29 Apr 2019	Hereditary neuropathy v1.51	VCP	Louise Daugherty Source NHS GMS was added to VCP.
29 Apr 2019	Hereditary neuropathy v1.51	TYMP	Louise Daugherty Source NHS GMS was added to TYMP.
29 Apr 2019	Hereditary neuropathy v1.51	TUBB3	Louise Daugherty Source NHS GMS was added to TUBB3.
29 Apr 2019	Hereditary neuropathy v1.51	TTR	Louise Daugherty Source NHS GMS was added to TTR.
29 Apr 2019	Hereditary neuropathy v1.51	TRPV4	Louise Daugherty Source NHS GMS was added to TRPV4.
29 Apr 2019	Hereditary neuropathy v1.51	TRPA1	Louise Daugherty Source NHS GMS was added to TRPA1.
29 Apr 2019	Hereditary neuropathy v1.51	TRIM2	Louise Daugherty Source NHS GMS was added to TRIM2.
29 Apr 2019	Hereditary neuropathy v1.51	TFG	Louise Daugherty Source NHS GMS was added to TFG.
29 Apr 2019	Hereditary neuropathy v1.51	SYT2	Louise Daugherty Source NHS GMS was added to SYT2.
29 Apr 2019	Hereditary neuropathy v1.51	SURF1	Louise Daugherty Source NHS GMS was added to SURF1.
29 Apr 2019	Hereditary neuropathy v1.51	SPTLC2	Louise Daugherty Source NHS GMS was added to SPTLC2.
29 Apr 2019	Hereditary neuropathy v1.51	SPTLC1	Louise Daugherty Source NHS GMS was added to SPTLC1.
29 Apr 2019	Hereditary neuropathy v1.51	SPG11	Louise Daugherty Source NHS GMS was added to SPG11.
29 Apr 2019	Hereditary neuropathy v1.51	SPAST	Louise Daugherty Source NHS GMS was added to SPAST.
29 Apr 2019	Hereditary neuropathy v1.51	SMN1	Louise Daugherty Source NHS GMS was added to SMN1.
29 Apr 2019	Hereditary neuropathy v1.51	SLC5A7	Louise Daugherty Source NHS GMS was added to SLC5A7.
29 Apr 2019	Hereditary neuropathy v1.51	SLC52A3	Louise Daugherty Source NHS GMS was added to SLC52A3.
29 Apr 2019	Hereditary neuropathy v1.51	SLC52A2	Louise Daugherty Source NHS GMS was added to SLC52A2.
29 Apr 2019	Hereditary neuropathy v1.51	SLC52A1	Louise Daugherty Source NHS GMS was added to SLC52A1.
29 Apr 2019	Hereditary neuropathy v1.51	SLC12A6	Louise Daugherty Source NHS GMS was added to SLC12A6.
29 Apr 2019	Hereditary neuropathy v1.51	SIGMAR1	Louise Daugherty Source NHS GMS was added to SIGMAR1.
29 Apr 2019	Hereditary neuropathy v1.51	SH3TC2	Louise Daugherty Source NHS GMS was added to SH3TC2.
29 Apr 2019	Hereditary neuropathy v1.51	SETX	Louise Daugherty Source NHS GMS was added to SETX.
29 Apr 2019	Hereditary neuropathy v1.51	SEPT9	Louise Daugherty Source NHS GMS was added to SEPT9.
29 Apr 2019	Hereditary neuropathy v1.51	SCN9A	Louise Daugherty Source NHS GMS was added to SCN9A.
29 Apr 2019	Hereditary neuropathy v1.51	SCN11A	Louise Daugherty Source NHS GMS was added to SCN11A.
29 Apr 2019	Hereditary neuropathy v1.51	SCN10A	Louise Daugherty Source NHS GMS was added to SCN10A.
29 Apr 2019	Hereditary neuropathy v1.51	SBF2	Louise Daugherty Source NHS GMS was added to SBF2.
29 Apr 2019	Hereditary neuropathy v1.51	SBF1	Louise Daugherty Source NHS GMS was added to SBF1.
29 Apr 2019	Hereditary neuropathy v1.51	SACS	Louise Daugherty Source NHS GMS was added to SACS.
29 Apr 2019	Hereditary neuropathy v1.51	RETREG1	Louise Daugherty Source NHS GMS was added to RETREG1.
29 Apr 2019	Hereditary neuropathy v1.51	REEP1	Louise Daugherty Source NHS GMS was added to REEP1.
29 Apr 2019	Hereditary neuropathy v1.51	RAB7A	Louise Daugherty Source NHS GMS was added to RAB7A.
29 Apr 2019	Hereditary neuropathy v1.51	PRX	Louise Daugherty Source NHS GMS was added to PRX.
29 Apr 2019	Hereditary neuropathy v1.51	PRPS1	Louise Daugherty Source NHS GMS was added to PRPS1.
29 Apr 2019	Hereditary neuropathy v1.51	PRNP	Louise Daugherty Source NHS GMS was added to PRNP.
29 Apr 2019	Hereditary neuropathy v1.51	PRDM12	Louise Daugherty Source NHS GMS was added to PRDM12.
29 Apr 2019	Hereditary neuropathy v1.51	POLG	Louise Daugherty Source NHS GMS was added to POLG.
29 Apr 2019	Hereditary neuropathy v1.51	PMP22	Louise Daugherty Source NHS GMS was added to PMP22.
29 Apr 2019	Hereditary neuropathy v1.51	PMP2	Louise Daugherty Source NHS GMS was added to PMP2.
29 Apr 2019	Hereditary neuropathy v1.51	PLEKHG5	Louise Daugherty Source NHS GMS was added to PLEKHG5.
29 Apr 2019	Hereditary neuropathy v1.51	PHYH	Louise Daugherty Source NHS GMS was added to PHYH.
29 Apr 2019	Hereditary neuropathy v1.51	PEX7	Louise Daugherty Source NHS GMS was added to PEX7.
29 Apr 2019	Hereditary neuropathy v1.51	PDHA1	Louise Daugherty Source NHS GMS was added to PDHA1.
29 Apr 2019	Hereditary neuropathy v1.51	NTRK1	Louise Daugherty Source NHS GMS was added to NTRK1.
29 Apr 2019	Hereditary neuropathy v1.51	NGF	Louise Daugherty Source NHS GMS was added to NGF.
29 Apr 2019	Hereditary neuropathy v1.51	NEFL	Louise Daugherty Source NHS GMS was added to NEFL.
29 Apr 2019	Hereditary neuropathy v1.51	NEFH	Louise Daugherty Source NHS GMS was added to NEFH.
29 Apr 2019	Hereditary neuropathy v1.51	NDRG1	Louise Daugherty Source NHS GMS was added to NDRG1.
29 Apr 2019	Hereditary neuropathy v1.51	MTMR2	Louise Daugherty Source NHS GMS was added to MTMR2.
29 Apr 2019	Hereditary neuropathy v1.51	MT-ATP6	Louise Daugherty Source NHS GMS was added to MT-ATP6.
29 Apr 2019	Hereditary neuropathy v1.51	MPZ	Louise Daugherty Source NHS GMS was added to MPZ.
29 Apr 2019	Hereditary neuropathy v1.51	MPV17	Louise Daugherty Source NHS GMS was added to MPV17.
29 Apr 2019	Hereditary neuropathy v1.51	MORC2	Louise Daugherty Source NHS GMS was added to MORC2.
29 Apr 2019	Hereditary neuropathy v1.51	MME	Louise Daugherty Source NHS GMS was added to MME.
29 Apr 2019	Hereditary neuropathy v1.51	MFN2	Louise Daugherty Source NHS GMS was added to MFN2.
29 Apr 2019	Hereditary neuropathy v1.51	MCM3AP	Louise Daugherty Source NHS GMS was added to MCM3AP.
29 Apr 2019	Hereditary neuropathy v1.51	MARS	Louise Daugherty Source NHS GMS was added to MARS.
29 Apr 2019	Hereditary neuropathy v1.51	LRSAM1	Louise Daugherty Source NHS GMS was added to LRSAM1.
29 Apr 2019	Hereditary neuropathy v1.51	LMNA	Louise Daugherty Source NHS GMS was added to LMNA.
29 Apr 2019	Hereditary neuropathy v1.51	LITAF	Louise Daugherty Source NHS GMS was added to LITAF.
29 Apr 2019	Hereditary neuropathy v1.51	KIF5A	Louise Daugherty Source NHS GMS was added to KIF5A.
29 Apr 2019	Hereditary neuropathy v1.51	KIF1A	Louise Daugherty Source NHS GMS was added to KIF1A.
29 Apr 2019	Hereditary neuropathy v1.51	INF2	Louise Daugherty Source NHS GMS was added to INF2.
29 Apr 2019	Hereditary neuropathy v1.51	IGHMBP2	Louise Daugherty Source NHS GMS was added to IGHMBP2.
29 Apr 2019	Hereditary neuropathy v1.51	HSPB8	Louise Daugherty Source NHS GMS was added to HSPB8.
29 Apr 2019	Hereditary neuropathy v1.51	HSPB3	Louise Daugherty Source NHS GMS was added to HSPB3.
29 Apr 2019	Hereditary neuropathy v1.51	HSPB1	Louise Daugherty Source NHS GMS was added to HSPB1.
29 Apr 2019	Hereditary neuropathy v1.51	HK1	Louise Daugherty Source NHS GMS was added to HK1.
29 Apr 2019	Hereditary neuropathy v1.51	HINT1	Louise Daugherty Source NHS GMS was added to HINT1.
29 Apr 2019	Hereditary neuropathy v1.51	HARS	Louise Daugherty Source NHS GMS was added to HARS.
29 Apr 2019	Hereditary neuropathy v1.51	GNB4	Louise Daugherty Source NHS GMS was added to GNB4.
29 Apr 2019	Hereditary neuropathy v1.51	GLA	Louise Daugherty Source NHS GMS was added to GLA.
29 Apr 2019	Hereditary neuropathy v1.51	GJB1	Louise Daugherty Source NHS GMS was added to GJB1.
29 Apr 2019	Hereditary neuropathy v1.51	GDAP1	Louise Daugherty Source NHS GMS was added to GDAP1.
29 Apr 2019	Hereditary neuropathy v1.51	GARS	Louise Daugherty Source NHS GMS was added to GARS.
29 Apr 2019	Hereditary neuropathy v1.51	GAN	Louise Daugherty Source NHS GMS was added to GAN.
29 Apr 2019	Hereditary neuropathy v1.51	FXN	Louise Daugherty Source NHS GMS was added to FXN.
29 Apr 2019	Hereditary neuropathy v1.51	FIG4	Louise Daugherty Source NHS GMS was added to FIG4.
29 Apr 2019	Hereditary neuropathy v1.51	FGD4	Louise Daugherty Source NHS GMS was added to FGD4.
29 Apr 2019	Hereditary neuropathy v1.51	FBXO38	Louise Daugherty Source NHS GMS was added to FBXO38.
29 Apr 2019	Hereditary neuropathy v1.51	FBLN5	Louise Daugherty Source NHS GMS was added to FBLN5.
29 Apr 2019	Hereditary neuropathy v1.51	ELP1	Louise Daugherty Source NHS GMS was added to ELP1.
29 Apr 2019	Hereditary neuropathy v1.51	EGR2	Louise Daugherty Source NHS GMS was added to EGR2.
29 Apr 2019	Hereditary neuropathy v1.51	DYNC1H1	Louise Daugherty Source NHS GMS was added to DYNC1H1.
29 Apr 2019	Hereditary neuropathy v1.51	DNMT1	Louise Daugherty Source NHS GMS was added to DNMT1.
29 Apr 2019	Hereditary neuropathy v1.51	DNM2	Louise Daugherty Source NHS GMS was added to DNM2.
29 Apr 2019	Hereditary neuropathy v1.51	DNAJB2	Louise Daugherty Source NHS GMS was added to DNAJB2.
29 Apr 2019	Hereditary neuropathy v1.51	DCTN1	Louise Daugherty Source NHS GMS was added to DCTN1.
29 Apr 2019	Hereditary neuropathy v1.51	COX6A1	Louise Daugherty Source NHS GMS was added to COX6A1.
29 Apr 2019	Hereditary neuropathy v1.51	CNTNAP1	Louise Daugherty Source NHS GMS was added to CNTNAP1.
29 Apr 2019	Hereditary neuropathy v1.51	CHCHD10	Louise Daugherty Source NHS GMS was added to CHCHD10.
29 Apr 2019	Hereditary neuropathy v1.51	CCT5	Louise Daugherty Source NHS GMS was added to CCT5.
29 Apr 2019	Hereditary neuropathy v1.51	C12orf65	Louise Daugherty Source NHS GMS was added to C12orf65.
29 Apr 2019	Hereditary neuropathy v1.51	BSCL2	Louise Daugherty Source NHS GMS was added to BSCL2.
29 Apr 2019	Hereditary neuropathy v1.51	BICD2	Louise Daugherty Source NHS GMS was added to BICD2.
29 Apr 2019	Hereditary neuropathy v1.51	ATP7A	Louise Daugherty Source NHS GMS was added to ATP7A.
29 Apr 2019	Hereditary neuropathy v1.51	ATP1A1	Louise Daugherty Source NHS GMS was added to ATP1A1.
29 Apr 2019	Hereditary neuropathy v1.51	ATM	Louise Daugherty Source NHS GMS was added to ATM.
29 Apr 2019	Hereditary neuropathy v1.51	ATL3	Louise Daugherty Source NHS GMS was added to ATL3.
29 Apr 2019	Hereditary neuropathy v1.51	ATL1	Louise Daugherty Source NHS GMS was added to ATL1.
29 Apr 2019	Hereditary neuropathy v1.51	ARHGEF10	Louise Daugherty Source NHS GMS was added to ARHGEF10.
29 Apr 2019	Hereditary neuropathy v1.51	APTX	Louise Daugherty Source NHS GMS was added to APTX.
29 Apr 2019	Hereditary neuropathy v1.51	AIFM1	Louise Daugherty Source NHS GMS was added to AIFM1.
29 Apr 2019	Hereditary neuropathy v1.51	AARS	Louise Daugherty Source NHS GMS was added to AARS.
29 Apr 2019	Hereditary neuropathy v1.50	YARS	Louise Daugherty Source London North GLH was added to YARS. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	WNK1	Louise Daugherty Source London North GLH was added to WNK1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	WARS	Louise Daugherty gene: WARS was added gene: WARS was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: WARS was set to
29 Apr 2019	Hereditary neuropathy v1.50	VCP	Louise Daugherty Source London North GLH was added to VCP. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	TYMP	Louise Daugherty Source London North GLH was added to TYMP. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	TUBB3	Louise Daugherty Source London North GLH was added to TUBB3. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	TTR	Louise Daugherty Source London North GLH was added to TTR. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	TRPV4	Louise Daugherty Source London North GLH was added to TRPV4. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	TRPA1	Louise Daugherty gene: TRPA1 was added gene: TRPA1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: TRPA1 was set to
29 Apr 2019	Hereditary neuropathy v1.50	TRIM2	Louise Daugherty Source London North GLH was added to TRIM2.
29 Apr 2019	Hereditary neuropathy v1.50	TFG	Louise Daugherty Source London North GLH was added to TFG. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SYT2	Louise Daugherty Source London North GLH was added to SYT2.
29 Apr 2019	Hereditary neuropathy v1.50	SURF1	Louise Daugherty gene: SURF1 was added gene: SURF1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: SURF1 was set to
29 Apr 2019	Hereditary neuropathy v1.50	SPTLC2	Louise Daugherty Source London North GLH was added to SPTLC2. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SPTLC1	Louise Daugherty Source London North GLH was added to SPTLC1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SPG11	Louise Daugherty Source London North GLH was added to SPG11. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SPAST	Louise Daugherty Source London North GLH was added to SPAST. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SMN1	Louise Daugherty Source London North GLH was added to SMN1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SLC5A7	Louise Daugherty Source London North GLH was added to SLC5A7.
29 Apr 2019	Hereditary neuropathy v1.50	SLC52A3	Louise Daugherty Source London North GLH was added to SLC52A3. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SLC52A2	Louise Daugherty Source London North GLH was added to SLC52A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SLC52A1	Louise Daugherty Source London North GLH was added to SLC52A1.
29 Apr 2019	Hereditary neuropathy v1.50	SLC12A6	Louise Daugherty Source London North GLH was added to SLC12A6. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SIGMAR1	Louise Daugherty Source London North GLH was added to SIGMAR1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SH3TC2	Louise Daugherty Source London North GLH was added to SH3TC2. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SETX	Louise Daugherty Source London North GLH was added to SETX. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SEPT9	Louise Daugherty Source London North GLH was added to SEPT9. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SCN9A	Louise Daugherty Source London North GLH was added to SCN9A. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SCN11A	Louise Daugherty Source London North GLH was added to SCN11A. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SCN10A	Louise Daugherty gene: SCN10A was added gene: SCN10A was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: SCN10A was set to
29 Apr 2019	Hereditary neuropathy v1.50	SBF2	Louise Daugherty Source London North GLH was added to SBF2. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	SBF1	Louise Daugherty Source London North GLH was added to SBF1.
29 Apr 2019	Hereditary neuropathy v1.50	SACS	Louise Daugherty Source London North GLH was added to SACS. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	RETREG1	Louise Daugherty Source London North GLH was added to RETREG1.
29 Apr 2019	Hereditary neuropathy v1.50	REEP1	Louise Daugherty Source London North GLH was added to REEP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	RAB7A	Louise Daugherty Source London North GLH was added to RAB7A. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	PRX	Louise Daugherty Source London North GLH was added to PRX. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	PRPS1	Louise Daugherty Source London North GLH was added to PRPS1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	PRNP	Louise Daugherty Source London North GLH was added to PRNP. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	PRDM12	Louise Daugherty Source London North GLH was added to PRDM12. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	POLG	Louise Daugherty Source London North GLH was added to POLG. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	PMP22	Louise Daugherty Source London North GLH was added to PMP22. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	PMP2	Louise Daugherty gene: PMP2 was added gene: PMP2 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: PMP2 was set to
29 Apr 2019	Hereditary neuropathy v1.50	PLEKHG5	Louise Daugherty Source London North GLH was added to PLEKHG5. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	PHYH	Louise Daugherty Source London North GLH was added to PHYH. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	PEX7	Louise Daugherty Source London North GLH was added to PEX7. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	PDHA1	Louise Daugherty Source London North GLH was added to PDHA1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	NTRK1	Louise Daugherty Source London North GLH was added to NTRK1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	NGF	Louise Daugherty Source London North GLH was added to NGF. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	NEFL	Louise Daugherty Source London North GLH was added to NEFL. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	NEFH	Louise Daugherty gene: NEFH was added gene: NEFH was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: NEFH was set to
29 Apr 2019	Hereditary neuropathy v1.50	NDRG1	Louise Daugherty Source London North GLH was added to NDRG1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	MTMR2	Louise Daugherty Source London North GLH was added to MTMR2. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	MT-ATP6	Louise Daugherty Source London North GLH was added to MT-ATP6. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	MPZ	Louise Daugherty Source London North GLH was added to MPZ. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	MPV17	Louise Daugherty Source London North GLH was added to MPV17. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	MORC2	Louise Daugherty Source London North GLH was added to MORC2. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	MME	Louise Daugherty Source London North GLH was added to MME. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	MFN2	Louise Daugherty Source London North GLH was added to MFN2. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	MCM3AP	Louise Daugherty gene: MCM3AP was added gene: MCM3AP was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: MCM3AP was set to
29 Apr 2019	Hereditary neuropathy v1.50	MARS	Louise Daugherty Source London North GLH was added to MARS.
29 Apr 2019	Hereditary neuropathy v1.50	LRSAM1	Louise Daugherty Source London North GLH was added to LRSAM1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	LMNA	Louise Daugherty Source London North GLH was added to LMNA. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	LITAF	Louise Daugherty Source London North GLH was added to LITAF. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	KIF5A	Louise Daugherty Source London North GLH was added to KIF5A. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	KIF1A	Louise Daugherty Source London North GLH was added to KIF1A. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	INF2	Louise Daugherty Source London North GLH was added to INF2. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	IGHMBP2	Louise Daugherty Source London North GLH was added to IGHMBP2. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	HSPB8	Louise Daugherty Source London North GLH was added to HSPB8. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	HSPB3	Louise Daugherty Source London North GLH was added to HSPB3.
29 Apr 2019	Hereditary neuropathy v1.50	HSPB1	Louise Daugherty Source London North GLH was added to HSPB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	HK1	Louise Daugherty Source London North GLH was added to HK1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	HINT1	Louise Daugherty Source London North GLH was added to HINT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	HARS	Louise Daugherty Source London North GLH was added to HARS. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	GNB4	Louise Daugherty Source London North GLH was added to GNB4.
29 Apr 2019	Hereditary neuropathy v1.50	GLA	Louise Daugherty Source London North GLH was added to GLA. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	GJB1	Louise Daugherty Source London North GLH was added to GJB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	GDAP1	Louise Daugherty Source London North GLH was added to GDAP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	GARS	Louise Daugherty Source London North GLH was added to GARS. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	GAN	Louise Daugherty Source London North GLH was added to GAN. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	FXN	Louise Daugherty Source London North GLH was added to FXN.
29 Apr 2019	Hereditary neuropathy v1.50	FIG4	Louise Daugherty Source London North GLH was added to FIG4. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	FGD4	Louise Daugherty Source London North GLH was added to FGD4. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	FBXO38	Louise Daugherty Source London North GLH was added to FBXO38.
29 Apr 2019	Hereditary neuropathy v1.50	FBLN5	Louise Daugherty Source London North GLH was added to FBLN5. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	ELP1	Louise Daugherty Source London North GLH was added to ELP1.
29 Apr 2019	Hereditary neuropathy v1.50	EGR2	Louise Daugherty Source London North GLH was added to EGR2. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	DYNC1H1	Louise Daugherty Source London North GLH was added to DYNC1H1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	DNMT1	Louise Daugherty Source London North GLH was added to DNMT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	DNM2	Louise Daugherty Source London North GLH was added to DNM2. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	DNAJB2	Louise Daugherty Source London North GLH was added to DNAJB2.
29 Apr 2019	Hereditary neuropathy v1.50	DCTN1	Louise Daugherty Source London North GLH was added to DCTN1.
29 Apr 2019	Hereditary neuropathy v1.50	COX6A1	Louise Daugherty Source London North GLH was added to COX6A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	CNTNAP1	Louise Daugherty gene: CNTNAP1 was added gene: CNTNAP1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: CNTNAP1 was set to
29 Apr 2019	Hereditary neuropathy v1.50	CHCHD10	Louise Daugherty Source London North GLH was added to CHCHD10. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	CCT5	Louise Daugherty Source London North GLH was added to CCT5.
29 Apr 2019	Hereditary neuropathy v1.50	C12orf65	Louise Daugherty Source London North GLH was added to C12orf65. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	BSCL2	Louise Daugherty Source London North GLH was added to BSCL2. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	BICD2	Louise Daugherty Source London North GLH was added to BICD2. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	ATP7A	Louise Daugherty Source London North GLH was added to ATP7A. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	ATP1A1	Louise Daugherty gene: ATP1A1 was added gene: ATP1A1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: ATP1A1 was set to
29 Apr 2019	Hereditary neuropathy v1.50	ATM	Louise Daugherty Source London North GLH was added to ATM. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	ATL3	Louise Daugherty Source London North GLH was added to ATL3. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	ATL1	Louise Daugherty Source London North GLH was added to ATL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	ARHGEF10	Louise Daugherty Source London North GLH was added to ARHGEF10. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	APTX	Louise Daugherty Source London North GLH was added to APTX. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	AIFM1	Louise Daugherty Source London North GLH was added to AIFM1. Rating Changed from Green List (high evidence) to Green List (high evidence)
29 Apr 2019	Hereditary neuropathy v1.50	AARS	Louise Daugherty Source London North GLH was added to AARS. Rating Changed from Green List (high evidence) to Green List (high evidence)
21 Dec 2018	Hereditary neuropathy v1.49	KARS	Zornitza Stark reviewed gene: KARS: Rating: RED; Mode of pathogenicity: None; Publications: 20920668; Phenotypes: CMT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Dec 2018	Hereditary neuropathy v1.48	ATXN3_CAG	Louise Daugherty Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150
07 Dec 2018	Hereditary neuropathy v1.47	ATXN2_CAG	Louise Daugherty Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090
07 Dec 2018	Hereditary neuropathy v1.46	ATXN10_ATTCT	Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10 603516
07 Dec 2018	Hereditary neuropathy v1.45	ATXN1_CAG	Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400
07 Dec 2018	Hereditary neuropathy v1.44	FXN_GAA	Arianna Tucci Phenotypes for STR: FXN_GAA were changed from to Friedreich ataxia 229300
07 Dec 2018	Hereditary neuropathy v1.43	ATXN3_CAG	Arianna Tucci Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150
07 Dec 2018	Hereditary neuropathy v1.42	ATXN3_CAG	Arianna Tucci Phenotypes for STR: ATXN3_CAG were changed from to Machado-Joseph disease 109150
07 Dec 2018	Hereditary neuropathy v1.41	ATXN2_CAG	Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090
07 Dec 2018	Hereditary neuropathy v1.41	ATXN2_CAG	Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090
07 Dec 2018	Hereditary neuropathy v1.40	ATXN1_CAG	Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400
07 Dec 2018	Hereditary neuropathy v1.40	ATXN1_CAG	Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400
07 Dec 2018	Hereditary neuropathy v1.39	ATXN1_CAG	Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400
07 Dec 2018	Hereditary neuropathy v1.38	ATXN10_ATTCT	Arianna Tucci Phenotypes for STR: ATXN10_ATTCT were changed from to Spinocerebellar ataxia 10 603516
05 Dec 2018	Hereditary neuropathy v1.37	FXN_GAA	Louise Daugherty Tag STR tag was added to STR: FXN_GAA.
05 Dec 2018	Hereditary neuropathy v1.37	ATXN3_CAG	Louise Daugherty Tag STR tag was added to STR: ATXN3_CAG.
05 Dec 2018	Hereditary neuropathy v1.37	ATXN2_CAG	Louise Daugherty Tag STR tag was added to STR: ATXN2_CAG.
05 Dec 2018	Hereditary neuropathy v1.37	ATXN10_ATTCT	Louise Daugherty Tag STR tag was added to STR: ATXN10_ATTCT.
05 Dec 2018	Hereditary neuropathy v1.37	ATXN1_CAG	Louise Daugherty Tag STR tag was added to STR: ATXN1_CAG.
05 Dec 2018	Hereditary neuropathy v1.37	ATXN10_ATTCT	Arianna Tucci Marked STR: ATXN10_ATTCT as ready
05 Dec 2018	Hereditary neuropathy v1.37	ATXN10_ATTCT	Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
05 Dec 2018	Hereditary neuropathy v1.37	ATXN10_ATTCT	Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
05 Dec 2018	Hereditary neuropathy v1.37	ATXN10_ATTCT	Arianna Tucci Classified STR: ATXN10_ATTCT as Green List (high evidence)
05 Dec 2018	Hereditary neuropathy v1.37	ATXN10_ATTCT	Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
05 Dec 2018	Hereditary neuropathy v1.36	ATXN10_ATTCT	Arianna Tucci STR: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Hereditary neuropathy. Sources: Expert Review Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results Sources: Expert Review
05 Dec 2018	Hereditary neuropathy v1.35	ATXN3_CAG	Arianna Tucci Marked STR: ATXN3_CAG as ready
05 Dec 2018	Hereditary neuropathy v1.35	ATXN3_CAG	Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
05 Dec 2018	Hereditary neuropathy v1.35	ATXN3_CAG	Arianna Tucci Str: atxn3_cag has been classified as Green List (High Evidence).
05 Dec 2018	Hereditary neuropathy v1.35	ATXN3_CAG	Arianna Tucci Classified STR: ATXN3_CAG as Green List (high evidence)
05 Dec 2018	Hereditary neuropathy v1.35	ATXN3_CAG	Arianna Tucci Str: atxn3_cag has been classified as Green List (High Evidence).
05 Dec 2018	Hereditary neuropathy v1.34	ATXN3_CAG	Arianna Tucci Classified STR: ATXN3_CAG as Green List (high evidence)
05 Dec 2018	Hereditary neuropathy v1.34	ATXN3_CAG	Arianna Tucci Str: atxn3_cag has been classified as Green List (High Evidence).
05 Dec 2018	Hereditary neuropathy v1.33	ATXN3_CAG	Arianna Tucci STR: ATXN3_CAG was added STR: ATXN3_CAG was added to Hereditary neuropathy. Sources: Expert Review Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: ATXN3_CAG was marked as current diagnostic Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results Sources: Expert Review
05 Dec 2018	Hereditary neuropathy v1.32	ATXN2_CAG	Arianna Tucci Marked STR: ATXN2_CAG as ready
05 Dec 2018	Hereditary neuropathy v1.32	ATXN2_CAG	Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
05 Dec 2018	Hereditary neuropathy v1.32	ATXN2_CAG	Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
05 Dec 2018	Hereditary neuropathy v1.32	ATXN2_CAG	Arianna Tucci Classified STR: ATXN2_CAG as Green List (high evidence)
05 Dec 2018	Hereditary neuropathy v1.32	ATXN2_CAG	Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
05 Dec 2018	Hereditary neuropathy v1.32	ATXN2_CAG	Arianna Tucci Classified STR: ATXN2_CAG as Green List (high evidence)
05 Dec 2018	Hereditary neuropathy v1.32	ATXN2_CAG	Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
05 Dec 2018	Hereditary neuropathy v1.31	ATXN2_CAG	Arianna Tucci STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Hereditary neuropathy. Sources: Expert Review Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: ATXN2_CAG was set to GREEN STR: ATXN2_CAG was marked as current diagnostic Added comment: Sources: Expert Review
05 Dec 2018	Hereditary neuropathy v1.30	ATXN1_CAG	Arianna Tucci Marked STR: ATXN1_CAG as ready
05 Dec 2018	Hereditary neuropathy v1.30	ATXN1_CAG	Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
05 Dec 2018	Hereditary neuropathy v1.30	ATXN1_CAG	Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
05 Dec 2018	Hereditary neuropathy v1.30	ATXN1_CAG	Arianna Tucci Classified STR: ATXN1_CAG as Green List (high evidence)
05 Dec 2018	Hereditary neuropathy v1.30	ATXN1_CAG	Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
05 Dec 2018	Hereditary neuropathy v1.29	ATXN1_CAG	Arianna Tucci STR: ATXN1_CAG was added STR: ATXN1_CAG was added to Hereditary neuropathy. Sources: Expert Review Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: ATXN1_CAG was set to GREEN STR: ATXN1_CAG was marked as clinically relevant STR: ATXN1_CAG was marked as current diagnostic Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results Sources: Expert Review
04 Dec 2018	Hereditary neuropathy v1.28	FXN_GAA	Arianna Tucci Marked STR: FXN_GAA as ready
04 Dec 2018	Hereditary neuropathy v1.28	FXN_GAA	Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
04 Dec 2018	Hereditary neuropathy v1.28	FXN_GAA	Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
04 Dec 2018	Hereditary neuropathy v1.28	FXN_GAA	Arianna Tucci Classified STR: FXN_GAA as Green List (high evidence)
04 Dec 2018	Hereditary neuropathy v1.28	FXN_GAA	Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
04 Dec 2018	Hereditary neuropathy v1.28	FXN_GAA	Arianna Tucci Classified STR: FXN_GAA as Green List (high evidence)
04 Dec 2018	Hereditary neuropathy v1.28	FXN_GAA	Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
04 Dec 2018	Hereditary neuropathy v1.27	FXN_GAA	Arianna Tucci STR: FXN_GAA was added STR: FXN_GAA was added to Hereditary neuropathy. Sources: Expert Review Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Review for STR: FXN_GAA was set to GREEN Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results Sources: Expert Review
15 Nov 2018	Hereditary neuropathy v1.26		Ellen McDonagh Panel name changed from Charcot-Marie-Tooth disease to Hereditary neuropathy List of related panels changed from to Charcot-Marie-Tooth disease Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
07 Sep 2018	Hereditary neuropathy v1.25	ISCA-37436-Gain	Louise Daugherty Region: ISCA-37436-Gain was added Region: ISCA-37436-Gain was added to Charcot-Marie-Tooth disease. Sources: ClinGen,Expert Review Green 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 Phenotypes for Region: ISCA-37436-Gain were set to 118220; Charcot-Marie-Tooth neuropathy type 1; distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop; hereditary neuropathy
07 Sep 2018	Hereditary neuropathy v1.25	ISCA-37436-Loss	Louise Daugherty Region: ISCA-37436-Loss was added Region: ISCA-37436-Loss was added to Charcot-Marie-Tooth disease. Sources: ClinGen,Expert Review Green 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 Phenotypes for Region: ISCA-37436-Loss were set to 162500; Charcot-Marie-Tooth disease, type 1A; muscle weakness; repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop; Neuropathy, recurrent, with pressure palsies; mild to moderate peripheral neuropathy
13 Aug 2018	Hereditary neuropathy	SLC52A2	Ellen McDonagh commented on gene: SLC52A2
06 Jul 2018	Hereditary neuropathy	MME	Helen Brittain marked gene: MME as ready
06 Jul 2018	Hereditary neuropathy	MME	Helen Brittain classified MME as Green List (high evidence)
27 Jun 2018	Hereditary neuropathy	SYT2	Ellen McDonagh commented on gene: SYT2
27 Jun 2018	Hereditary neuropathy	SYT2	Ellen McDonagh classified SYT2 as Amber List (moderate evidence)
14 May 2018	Hereditary neuropathy	SMN1	Ellen McDonagh edited their review of SMN1
14 Aug 2017	Hereditary neuropathy	GDAP1	Ellen McDonagh edited their review of GDAP1
14 Aug 2017	Hereditary neuropathy	HSPB1	Ellen McDonagh edited their review of HSPB1
01 Jun 2017	Hereditary neuropathy	SPG20	Louise Daugherty commented on SPG20
08 May 2017	Hereditary neuropathy	IKBKAP	Louise Daugherty commented on IKBKAP
31 Mar 2017	Hereditary neuropathy	MORC2	Ellen McDonagh classified MORC2 as green
24 Mar 2017	Hereditary neuropathy	FAM134B	Louise Daugherty commented on FAM134B
15 Mar 2017	Hereditary neuropathy	MME	Ellen McDonagh classified MME as amber
15 Mar 2017	Hereditary neuropathy	MME	Ellen McDonagh commented on MME
15 Mar 2017	Hereditary neuropathy	MORC2	Ellen McDonagh classified MORC2 as amber
15 Mar 2017	Hereditary neuropathy	MORC2	Ellen McDonagh added MORC2 to panel
15 Mar 2017	Hereditary neuropathy	MORC2	Ellen McDonagh reviewed MORC2
19 Jan 2017	Hereditary neuropathy	SBF1	Alice Gardham reviewed SBF1
19 Jan 2017	Hereditary neuropathy	MME	Alice Gardham reviewed MME
12 Jan 2017	Hereditary neuropathy	PRPS1	Sarah Leigh reviewed PRPS1
09 Dec 2016	Hereditary neuropathy	KIAA0196	Louise Daugherty commented on KIAA0196
09 Dec 2016	Hereditary neuropathy	C10orf2	Louise Daugherty commented on C10orf2
09 Dec 2016	Hereditary neuropathy	MRE11A	Louise Daugherty commented on MRE11A
09 Dec 2016	Hereditary neuropathy	ADCK3	Louise Daugherty commented on ADCK3
17 Oct 2016	Hereditary neuropathy	MME	Ellen Thomas added MME to panel
17 Oct 2016	Hereditary neuropathy	MME	Ellen Thomas reviewed MME