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Hereditary neuropathy v1.506 MORC2 Arina Puzriakova Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z 616688; Charcot-Marie-Tooth disease, axonal, type 2Z, 616688; axonal Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090
Hereditary neuropathy v1.504 ARHGAP19 Achchuthan Shanmugasundram Classified gene: ARHGAP19 as Green List (high evidence)
Hereditary neuropathy v1.504 ARHGAP19 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Shahryar Alavi, there are multiple unrelated families reported with biallelic ARHGAP19 variants and with motor-predominant neuropathy. Hence, this gene has been promoted to green rating on this panel.
Hereditary neuropathy v1.504 ARHGAP19 Achchuthan Shanmugasundram Gene: arhgap19 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.503 ARHGAP19 Achchuthan Shanmugasundram Publications for gene: ARHGAP19 were set to https://www.medrxiv.org/content/10.1101/2024.05.10.24306768v1
Hereditary neuropathy v1.502 ARHGAP19 Achchuthan Shanmugasundram Phenotypes for gene: ARHGAP19 were changed from neuropathy; Charcot-Marie-Tooth disease to motor peripheral neuropathy, MONDO:0002316
Hereditary neuropathy v1.501 ARHGAP19 Achchuthan Shanmugasundram reviewed gene: ARHGAP19: Rating: GREEN; Mode of pathogenicity: None; Publications: 41086021; Phenotypes: motor peripheral neuropathy, MONDO:0002316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.501 CPOX Ida Ertmanska Phenotypes for gene: CPOX were changed from Coproporphyria, 121300; Harderoporphyria, 121300; Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP to Coproporphyria, OMIM:121300; Harderoporphyria, OMIM:618892
Publications for gene: CPOX were updated from to 8008008; 11074238; 11309681; 21103937; 24353603; 24156084; 35228944; 35584894; 38940544
Hereditary neuropathy v1.500 CPOX Ida Ertmanska edited their review of gene: CPOX: Added comment: Comment on list classification: Both mono- and bi- allelic variants in CPOX are known to cause hereditary coproporphyria (HCP), which may result in severe abdominal pain and progressive peripheral neuropathy. However, specific neuropathy cases are rarely reported with a genetic diagnosis - only 1 individual with peripheral neuropathy and a heterozygous CPOX variant is included in this review (PMID: 35228944 Upchurch et al., 2025). Biochemical testing of faecal coproporphyrin is a much more common diagnostic route. Since CPOX is the only gene known to cause Coproporphyria, this gene may remain Green for Hereditary neuropathy.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy v1.500 CPOX Ida Ertmanska reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 8008008, 11074238, 11309681, 21103937, 24353603, 24156084, 35228944, 35584894, 38940544; Phenotypes: Coproporphyria, OMIM:121300, Harderoporphyria, OMIM:618892; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.500 CPOX Sharon Whatley changed review comment from: Relevant metabolic investigation: Urine porphobilinogen

PMID: 38940544 Aarsand reports that the acute porphyrias are a group of rare inborn errors of metabolism caused by abnormal functioning of haem biosynthesis enzymes and are associated with acute neurovisceral attacks characterized by severe abdominal pain and neuropsychiatric symptoms that may require highly specialized intensive care. The acute porphyrias, acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP), usually become symptomatic in early adulthood.
PMID: 11309681 Lamoril reports that HCP is the least common of the autosomal dominant, acute hepatic porphyrias. It results from pathogenic variants in the CPOX gene that encodes the mitochondrial enzyme, coproporphyrinogen oxidase.

PMID: 38940544 Aarsand and 23605133 Whatley report that HCP is an autosomal dominant disorder with an estimated prevalence of HCP in the UK as 1–2 in a million with a rough estimate of the clinical penetrance 0.4%. Due to this low penetrance, genetic testing alone may be misleading and cause misdiagnosis. IPNET advises that biochemical testing is used to diagnose active HCP as the penetrance is so low.

PMID: 35584894 Schulenburg-Brand reviews the neuropathy that may occur in the acute porphyrias. Weakness and altered sensation are typically mild in an acute attack and improve as the pain resolves. In a small number of cases, severe, progressive peripheral neuropathy develops. Neuropathy can worsen, even after the acute pain resolves, with a Guillain-Barré like picture. Proximal muscle weakness occurs in the upper limbs and can progress to involve the legs and cause respiratory failure. Cranial nerves can be involved, with the facial, vagus and hypoglossal nerves most often affected, causing swallowing difficulties. Sensory neuropathy is less common, but can cause numbness over the torso and thighs, sometimes with severe pain. Cases gradually resolve with respiratory support, and some patients may need prolonged mechanical ventilation. After recovery, some degree of peripheral neuropathy can persist, with foot drop and wrist drop being fairly typical.

Careful consideration should be given to the reporting of a single pathogenic variant as an incidental finding in the CPOX gene, due to its low clinical penetrance (~0.4%).; to: Relevant metabolic investigation: Urine porphobilinogen

PMID: 38940544 Aarsand reports that the acute porphyrias are a group of rare inborn errors of metabolism caused by abnormal functioning of haem biosynthesis enzymes and are associated with acute neurovisceral attacks characterized by severe abdominal pain and neuropsychiatric symptoms that may require highly specialized intensive care. The acute porphyrias, acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP), usually become symptomatic in early adulthood.

PMID: 11309681 Lamoril reports that HCP is the least common of the autosomal dominant, acute hepatic porphyrias. It results from pathogenic variants in the CPOX gene that encodes the mitochondrial enzyme, coproporphyrinogen oxidase.

PMID: 38940544 Aarsand and 23605133 Whatley report that HCP is an autosomal dominant disorder with an estimated prevalence of HCP in the UK as 1–2 in a million with a rough estimate of the clinical penetrance 0.4%. Due to this low penetrance, genetic testing alone may be misleading and cause misdiagnosis. IPNET advises that biochemical testing is used to diagnose active HCP as the penetrance is so low.

PMID: 35584894 Schulenburg-Brand reviews the neuropathy that may occur in the acute porphyrias. Weakness and altered sensation are typically mild in an acute attack and improve as the pain resolves. In a small number of cases, severe, progressive peripheral neuropathy develops. Neuropathy can worsen, even after the acute pain resolves, with a Guillain-Barré like picture. Proximal muscle weakness occurs in the upper limbs and can progress to involve the legs and cause respiratory failure. Cranial nerves can be involved, with the facial, vagus and hypoglossal nerves most often affected, causing swallowing difficulties. Sensory neuropathy is less common, but can cause numbness over the torso and thighs, sometimes with severe pain. Cases gradually resolve with respiratory support, and some patients may need prolonged mechanical ventilation. After recovery, some degree of peripheral neuropathy can persist, with foot drop and wrist drop being fairly typical.

Careful consideration should be given to the reporting of a single pathogenic variant as an incidental finding in the CPOX gene, due to its low clinical penetrance (~0.4%).
Hereditary neuropathy v1.500 CPOX Sharon Whatley reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38940544, 11309681, 35584894; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary neuropathy v1.500 PPOX Sharon Whatley changed review comment from: Relevant metabolic investigation: urine porphobilinogen (to be completed before genetic testing for diagnosis of an acute porphyric attack) plasma porphyrin fluorescence emission (homozygous VP).
PMID: 38940544 Aarsand reports that variegate porphyria (VP) is an autosomal dominant disorder and estimates that individuals with a predisposition for VP in the general population is 1/3,000 (except where founder effects occur e.g. South Africa). A rough estimate of the penetrance of pathogenic variants in this gene is given as 1%. Due to this low penetrance, genetic testing alone may be misleading and cause misdiagnosis. IPNET advises that VP is diagnosed using biochemical tests (urine porphobilinogen during an acute attack followed by plasma fluorescence emission or if the patient only has cutaneous symptoms plasma porphyrin fluorescence) as the penetrance is so low.
PMID: 35584894 Schulenburg-Brand reviews the neuropathy that may occur in the acute porphyrias. Weakness and altered sensation are typically mild in an acute attack and improve as the pain resolves. In a small number of cases, severe, progressive peripheral neuropathy develops. Neuropathy can worsen, even after the acute pain resolves, with a Guillain-Barré like picture. Proximal muscle weakness occurs in the upper limbs and can progress to involve the legs and cause respiratory failure. Cranial nerves can be involved, with the facial, vagus and hypoglossal nerves most often affected, causing swallowing difficulties. Sensory neuropathy is less common, but can cause numbness over the torso and thighs, sometimes with severe pain. Cases gradually resolve with respiratory support, and some patients may need prolonged mechanical ventilation. After recovery, some degree of peripheral neuropathy can persist, with foot drop and wrist drop being fairly typical.
PMID: 37879139 Assaleh reports that biallelic VP is rare. To the best of our knowledge there are 25 patients (in 21 families) reported with homozygous VP (40114189 Kaiser 37879139 Assaleh, 33159949 Cho and references therein). It usually presents in infancy with severe cutaneous manifestations. Three of these patients (PMID: 11286631 Kauppinen, 10870850 Corrigall, 8290408 Hift) had sensory neuropathy.
PMID:11286631 Kauppinen reports a patient who following birth presented with severe bullous skin disease followed by increased fragility and keloid-like scarring. His fingers were shortened. Mental status, EEG, and CT of the head were normal, but sensory polyneuropathy was shown in especially in the upper extremities. Fine motor coordination disturbances were accompanied by minor verbal and visuospatial deficiencies. DNA from the patient showed that he is compound heterozygous for PPOX: c.35T>C, p.(Ile12Thr) and c.767C>G, p.(Pro256Arg).
PMID:10870850 Corrigall reports a 10-month-old child with fragile skin with blisters, scars, and milia most marked in sun-exposed areas. She had brachydactyly, photo-onycholysis, myopia, nystagmus, a sensory neuropathy and problems with concentration. She never had a typical acute attack. Genetic analysis showed that this patient was compound heterozygous for PPOX c.175C>T, p.(Arg59Trp) and c.1043A>G, p.(Tyr348Cys).
PMID: 8290408 Hift reports child who within days of birth developed severe blistering of the face and hands. She had brachydactyly, severe myopia and a pendular nystagmus. Neurological development was delayed with normal intelligence. She had gross sensory neuropathy of the hands and feet but no acute attacks.
Careful consideration should be given to the reporting of a single pathogenic variant as an incidental finding in the PPOX gene, due to its low clinical penetrance.; to: Relevant metabolic investigation: urine porphobilinogen (to be completed before genetic testing for diagnosis of an acute porphyric attack) plasma porphyrin fluorescence emission (homozygous VP).
PMID: 38940544 Aarsand reports that variegate porphyria (VP) is an autosomal dominant disorder and estimates that individuals with a predisposition for VP in the general population is 1/3,000 (except where founder effects occur e.g. South Africa). A rough estimate of the penetrance of pathogenic variants in this gene is given as 1%. Due to this low penetrance, genetic testing alone may be misleading and cause misdiagnosis. IPNET advises that VP is diagnosed using biochemical tests (urine porphobilinogen during an acute attack followed by plasma fluorescence emission or if the patient only has cutaneous symptoms plasma porphyrin fluorescence) as the penetrance is so low.
PMID: 35584894 Schulenburg-Brand reviews the neuropathy that may occur in the acute porphyrias. Weakness and altered sensation are typically mild in an acute attack and improve as the pain resolves. In a small number of cases, severe, progressive peripheral neuropathy develops. Neuropathy can worsen, even after the acute pain resolves, with a Guillain-Barré like picture. Proximal muscle weakness occurs in the upper limbs and can progress to involve the legs and cause respiratory failure. Cranial nerves can be involved, with the facial, vagus and hypoglossal nerves most often affected, causing swallowing difficulties. Sensory neuropathy is less common, but can cause numbness over the torso and thighs, sometimes with severe pain. Cases gradually resolve with respiratory support, and some patients may need prolonged mechanical ventilation. After recovery, some degree of peripheral neuropathy can persist, with foot drop and wrist drop being fairly typical.
PMID: 37879139 Assaleh reports that biallelic VP is rare. To the best of our knowledge there are 25 patients (in 21 families) reported with homozygous VP (40114189 Kaiser 37879139 Assaleh, 33159949 Cho and references therein). It usually presents in infancy with severe cutaneous manifestations. Three of these patients (PMID: 11286631 Kauppinen, 10870850 Corrigall, 8290408 Hift) had sensory neuropathy, as reported by the previous reviewer.

Careful consideration should be given to the reporting of a single pathogenic variant as an incidental finding in the PPOX gene, due to its low clinical penetrance.
Hereditary neuropathy v1.500 PPOX Sharon Whatley reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38940544, 35584894, 37879139, 11286631, 10870850, 8290408; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary neuropathy v1.500 RCC1 Arina Puzriakova Phenotypes for gene: RCC1 were changed from axonal neuropathy; encephalopathy; infection-induced neuropathy to Severe, acute-onset axonal neuropathy following infection
Hereditary neuropathy v1.499 RCC1 Arina Puzriakova Publications for gene: RCC1 were set to PMID: 40683276
Hereditary neuropathy v1.498 RCC1 Arina Puzriakova Classified gene: RCC1 as Green List (high evidence)
Hereditary neuropathy v1.498 RCC1 Arina Puzriakova Added comment: Comment on list classification: Rating Green on this 100K panel as there is a sufficient number of unrelated cases with the same phenotype and functional data to support this gene-disease association.

At least 12 unrelated families reported (PMID: 40683276) with biallelic variants in this gene associated with severe, acute-onset axonal neuropathy following infection. Eight different missense variants were identified. In vitro studies indicate that variants reduced the thermal stability of the RCC1 protein and some variants decreased GDP-to-GTP exchange activity. Patient fibroblasts under stress, revealed defects in Ran nuclear localisation and impaired nucleocytoplasmic transport. A Drosophila model demonstrated that altered Rcc1 function leads to fatal intolerance to oxidative stress.
Hereditary neuropathy v1.498 RCC1 Arina Puzriakova Gene: rcc1 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.497 RCC1 Bill Newman gene: RCC1 was added
gene: RCC1 was added to Hereditary neuropathy. Sources: Expert list
Mode of inheritance for gene: RCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RCC1 were set to PMID: 40683276
Phenotypes for gene: RCC1 were set to axonal neuropathy; encephalopathy; infection-induced neuropathy
Penetrance for gene: RCC1 were set to Complete
Review for gene: RCC1 was set to GREEN
Added comment: We have just described 12 families withbiallelic hylomorphic variants in this gene associated with acute onset axonal neuropathy mimicking Guillain Barre syndrome (ie post infective onset)
Sources: Expert list
Hereditary neuropathy v1.497 ARHGAP19 Shahryar Alavi gene: ARHGAP19 was added
gene: ARHGAP19 was added to Hereditary neuropathy. Sources: Research
Mode of inheritance for gene: ARHGAP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGAP19 were set to https://www.medrxiv.org/content/10.1101/2024.05.10.24306768v1
Phenotypes for gene: ARHGAP19 were set to neuropathy; Charcot-Marie-Tooth disease
Penetrance for gene: ARHGAP19 were set to Complete
Mode of pathogenicity for gene: ARHGAP19 was set to Other
Review for gene: ARHGAP19 was set to GREEN
Added comment: A comprehensive study on loss of function variants of the ARHGAP19 gene from several unrelated families shows that homozygous mutations cause early-onset motor-predominant neuropathy.
Biochemical assays revealed that GAP domain variants cause loss of protein function. Fruit fly and Zebrafish loss of function models also showed movement deficits.
RNA-Seq analysis confirmed downregulation of ARHGAP19 as well as cell cycle, motor and muscular cytoskeleton pathways in patients compared to controls.
The paper is under review.
Sources: Research
Hereditary neuropathy v1.497 HMBS Sharon Whatley reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27539938, 38940544, 35584894, 14262853, 1577472, 15534187, 31153822, 14970743, 34089223, 27558376; Phenotypes: 176000, 620711, 620704; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary neuropathy v1.497 SPAST Sarah Leigh Added comment: Comment on publications: PMID: 39731306 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Hereditary neuropathy v1.497 SPAST Sarah Leigh Publications for gene: SPAST were set to 28572275
Hereditary neuropathy v1.496 SPAST Sarah Leigh Mode of inheritance for gene: SPAST was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy v1.495 SPAST Sarah Leigh reviewed gene: SPAST: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy v1.495 LRP12_CGG Sarah Leigh Classified STR: LRP12_CGG as Amber List (moderate evidence)
Hereditary neuropathy v1.495 LRP12_CGG Sarah Leigh Added comment: Comment on list classification: This STR is rated as amber, as it is not NGS validated.
Hereditary neuropathy v1.495 LRP12_CGG Sarah Leigh Str: lrp12_cgg has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy v1.494 LRP12_CGG Sarah Leigh Tag NGS Not Validated tag was added to STR: LRP12_CGG.
Hereditary neuropathy v1.494 LRP12_CGG Sarah Leigh GRCh37 position for LRP12_CGG was changed from - to 105601201-105601227.
GRCh38 position for LRP12_CGG was changed from 104588961-104588999 to 104588973-104588999.
Hereditary neuropathy v1.493 LRP12 Dmitrijs Rots reviewed gene: LRP12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.493 LRP12_CGG Arina Puzriakova LRP12 was changed to LRP12_CGG
Source Literature was removed from STR: LRP12_CGG.
Hereditary neuropathy v1.492 TUBB3 Arina Puzriakova Phenotypes for gene: TUBB3 were changed from Fibrosis of extraocular muscles, congenital, 3A; CFEOM3A; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES to Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638; CFEOM3A
Hereditary neuropathy v1.491 TWNK Arina Puzriakova Phenotypes for gene: TWNK were changed from Hereditary Neuropathies; Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR); Perrault syndrome 5, OMIM:616138 (AR); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD)
Hereditary neuropathy v1.490 ZFYVE26 Arina Puzriakova Phenotypes for gene: ZFYVE26 were changed from 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 to Spastic paraplegia 15, autosomal recessive, OMIM:270700
Hereditary neuropathy v1.489 SPTLC2 Dmitrijs Rots reviewed gene: SPTLC2: 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: PMID: 38041679, 38041684; Phenotypes: ALS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy v1.489 NDC1 Sarah Leigh reviewed gene: NDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.489 NDC1 Sarah Leigh Classified gene: NDC1 as Green List (high evidence)
Hereditary neuropathy v1.489 NDC1 Sarah Leigh Gene: ndc1 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.488 NDC1 Sarah Leigh Classified gene: NDC1 as Amber List (moderate evidence)
Hereditary neuropathy v1.488 NDC1 Sarah Leigh Gene: ndc1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy v1.487 LRP12 Sarah Leigh changed review comment from: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present.; to: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be rated in PanelApp at present.
Hereditary neuropathy v1.487 LRP12 Sarah Leigh changed review comment from: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst.; to: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present.
Hereditary neuropathy v1.487 LRP12 Sarah Leigh changed review comment from: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).
The LRP12_CGG variant has not been verified by Clinical Team; to: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).
This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present.
Hereditary neuropathy v1.487 LRP12 Sarah Leigh commented on STR: LRP12: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).
Hereditary neuropathy v1.487 LRP12 Sarah Leigh Tag STR tag was added to STR: LRP12.
Hereditary neuropathy v1.487 LRP12 Sarah Leigh Tag STR tag was added to gene: LRP12.
Hereditary neuropathy v1.487 LRP12 Sarah Leigh reviewed gene: LRP12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.487 LRP12 Sarah Leigh Classified STR: LRP12 as No list
Hereditary neuropathy v1.487 LRP12 Sarah Leigh Added comment: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst.
Hereditary neuropathy v1.487 LRP12 Sarah Leigh Str: lrp12 has been removed from the panel.
Hereditary neuropathy v1.486 LRP12 Sarah Leigh Publications for STR: LRP12 were set to 39013564
Hereditary neuropathy v1.485 LRP12 Sarah Leigh Classified STR: LRP12 as Amber List (moderate evidence)
Hereditary neuropathy v1.485 LRP12 Sarah Leigh Str: lrp12 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy v1.484 LRP12 Sarah Leigh Publications for gene: LRP12 were set to 39013564
Hereditary neuropathy v1.483 LRP12 Sarah Leigh Classified gene: LRP12 as Amber List (moderate evidence)
Hereditary neuropathy v1.483 LRP12 Sarah Leigh Gene: lrp12 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy v1.482 BICD2 Sarah Leigh Publications for gene: BICD2 were set to 23664116; 23664120; 25497877
Hereditary neuropathy v1.481 BICD2 Sarah Leigh Publications for gene: BICD2 were set to 23664116
Hereditary neuropathy v1.480 LRP12 Alexander Rossor STR: LRP12 was added
STR: LRP12 was added to Hereditary neuropathy. Sources: Literature
Mode of inheritance for STR: LRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: LRP12 were set to 39013564
Phenotypes for STR: LRP12 were set to Motor axonal neuropathy
Review for STR: LRP12 was set to GREEN
Added comment: Sources: Literature
Hereditary neuropathy v1.480 NDC1 Alexander Rossor gene: NDC1 was added
gene: NDC1 was added to Hereditary neuropathy. Sources: Literature
Mode of inheritance for gene: NDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDC1 were set to 39003500
Phenotypes for gene: NDC1 were set to demyelinating neuropathy; alacrima; achalasia
Penetrance for gene: NDC1 were set to Complete
Review for gene: NDC1 was set to GREEN
Added comment: 7 individuals from 4 unrelated consanguinioius families
Sources: Literature
Hereditary neuropathy v1.480 LRP12 Alexander Rossor gene: LRP12 was added
gene: LRP12 was added to Hereditary neuropathy. Sources: Literature
Mode of inheritance for gene: LRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP12 were set to 39013564
Phenotypes for gene: LRP12 were set to Motor axonal neuropathy
Review for gene: LRP12 was set to GREEN
Added comment: Trinucleotide repeat expansion, 44 patients with neuropathy in Japanese cohort
Sources: Literature
Hereditary neuropathy v1.480 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Hereditary neuropathy v1.480 MT-RNR1 Sarah Leigh Tag locus-type-rna-ribosomal tag was added to gene: MT-RNR1.
Hereditary neuropathy v1.480 ATXN7_CAG Sarah Leigh Classified STR: ATXN7_CAG as Green List (high evidence)
Hereditary neuropathy v1.480 ATXN7_CAG Sarah Leigh Str: atxn7_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.479 ATXN7_CAG Sarah Leigh Tag Q2_24_promote_green was removed from STR: ATXN7_CAG.
Tag Q2_24_expert_review was removed from STR: ATXN7_CAG.
Hereditary neuropathy v1.479 ATXN7_CAG Sarah Leigh Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7, OMIM:164500 to Spinocerebellar ataxia 7, OMIM:164500; autosomal dominant cerebellar ataxia type II, MONDO:0016163
Hereditary neuropathy v1.478 ATXN7_CAG Sarah Leigh Tag Q2_24_promote_green tag was added to STR: ATXN7_CAG.
Tag Q2_24_expert_review tag was added to STR: ATXN7_CAG.
Hereditary neuropathy v1.478 ATXN7_CAG Sarah Leigh reviewed STR: ATXN7_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.478 SPTBN4 Arina Puzriakova Phenotypes for gene: SPTBN4 were changed from Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519
Hereditary neuropathy v1.477 GAN Arina Puzriakova Phenotypes for gene: GAN were changed from Giant axonal neuropathy-1 to Giant axonal neuropathy-1, OMIM:256850
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"
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"
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
Hereditary neuropathy v1.475 PRX Arina Puzriakova Publications for gene: PRX were set to 11157804; 10848494
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
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
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
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.
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.
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.
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.
Hereditary neuropathy v1.472 DNAJC3 Achchuthan Shanmugasundram Classified gene: DNAJC3 as Green List (high evidence)
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.
Hereditary neuropathy v1.472 DNAJC3 Achchuthan Shanmugasundram Gene: dnajc3 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.471 DNAJC3 Achchuthan Shanmugasundram Publications for gene: DNAJC3 were set to 25466870
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
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
Hereditary neuropathy v1.469 PPOX Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: PPOX.
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".
Hereditary neuropathy v1.469 PPOX Achchuthan Shanmugasundram Tag Q3_23_MOI tag was added to gene: PPOX.
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.
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
Hereditary neuropathy v1.468 PPOX Achchuthan Shanmugasundram Publications for gene: PPOX were set to 8290408; 10870850; 11286631
Hereditary neuropathy v1.467 PPOX Achchuthan Shanmugasundram Publications for gene: PPOX were set to
Hereditary neuropathy v1.466 PPOX Achchuthan Shanmugasundram edited their review of gene: PPOX: Changed rating: GREEN
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
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
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
Hereditary neuropathy v1.465 SPG7 Sarah Leigh commented on gene: SPG7
Hereditary neuropathy v1.465 SPG7 Sarah Leigh Publications for gene: SPG7 were set to
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
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
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
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
Hereditary neuropathy v1.460 IGHMBP2 Achchuthan Shanmugasundram Publications for gene: IGHMBP2 were set to 26392352
Hereditary neuropathy v1.459 SETX Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: SETX.
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
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
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.
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
Hereditary neuropathy v1.458 ISCA-37436-Loss Arina Puzriakova GRCh38 position for ISCA-37436-Loss was changed from 14194598-15567587 to 14194598-15519638.
Hereditary neuropathy v1.458 ISCA-37436-Gain Arina Puzriakova GRCh38 position for ISCA-37436-Gain was changed from 14194598-15567587 to 14194598-15519638.
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
Hereditary neuropathy v1.457 ARHGEF10 Dmitrijs Rots reviewed gene: ARHGEF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.457 FAM126A Eleanor Williams commented on gene: FAM126A
Hereditary neuropathy v1.457 FAM126A Eleanor Williams Tag new-gene-name tag was added to gene: FAM126A.
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
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
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.
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.
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
Hereditary neuropathy v1.454 SLC12A6 Eleanor Williams Tag for-review was removed from gene: SLC12A6.
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
Hereditary neuropathy v1.453 SH3TC2 Arina Puzriakova Tag Q2_22_MOI was removed from gene: SH3TC2.
Hereditary neuropathy v1.453 TAZ Arina Puzriakova commented on gene: TAZ
Hereditary neuropathy v1.453 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Hereditary neuropathy v1.453 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
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.
Hereditary neuropathy v1.453 C1orf194 Eleanor Williams Tag new-gene-name tag was added to gene: C1orf194.
Hereditary neuropathy v1.453 C1orf194 Eleanor Williams commented on gene: C1orf194
Hereditary neuropathy v1.453 C1orf194 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: C1orf194.
Hereditary neuropathy v1.453 C1orf194 Eleanor Williams Tag gene-checked tag was added to gene: C1orf194.
Hereditary neuropathy v1.453 MT-TL1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1.
Hereditary neuropathy v1.453 MT-RNR1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-RNR1.
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
Hereditary neuropathy v1.452 SH3TC2 Sarah Leigh Tag Q2_22_MOI tag was added to gene: SH3TC2.
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
Hereditary neuropathy v1.452 SETX Sarah Leigh Tag Q2_22_MOI tag was added to gene: SETX.
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
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
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.
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.
Hereditary neuropathy v1.450 OPA1 Arina Puzriakova Publications for gene: OPA1 were set to
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.
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
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
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
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
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
Hereditary neuropathy v1.444 ELP1 Arina Puzriakova Phenotypes for gene: ELP1 were changed from Dysautonomia, familial, 223900 to Dysautonomia, familial, OMIM:223900
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
Hereditary neuropathy v1.442 ISCA-37436-Gain Arina Puzriakova commented on Region: ISCA-37436-Gain
Hereditary neuropathy v1.442 ISCA-37436-Loss Eleanor Williams commented on Region: ISCA-37436-Loss
Hereditary neuropathy v1.442 ISCA-37436-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37436-Loss was changed from 80 to 60.
Hereditary neuropathy v1.442 ISCA-37436-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37436-Gain was changed from 80 to 60.
Hereditary neuropathy v1.441 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG
Hereditary neuropathy v1.441 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG
Hereditary neuropathy v1.441 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Hereditary neuropathy v1.441 FMR1_CGG Sarah Leigh commented on STR: FMR1_CGG
Hereditary neuropathy v1.441 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Hereditary neuropathy v1.441 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Hereditary neuropathy v1.441 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Hereditary neuropathy v1.441 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Hereditary neuropathy v1.441 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Hereditary neuropathy v1.441 AR_CAG Ivone Leong commented on STR: AR_CAG
Hereditary neuropathy v1.441 FXN_GAA Arina Puzriakova Classified STR: FXN_GAA as Green List (high evidence)
Hereditary neuropathy v1.441 FXN_GAA Arina Puzriakova Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary neuropathy v1.440 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary neuropathy v1.440 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.439 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary neuropathy v1.439 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.438 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary neuropathy v1.438 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary neuropathy v1.437 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary neuropathy v1.437 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
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.
Hereditary neuropathy v1.434 NOP56_GGCCTG Arina Puzriakova Source NHS GMS was added to STR: NOP56_GGCCTG.
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)
Hereditary neuropathy v1.434 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
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.
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)
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)
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)
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)
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.
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
Hereditary neuropathy v1.432 MME Arina Puzriakova Publications for gene: MME were set to 26991897; 27588448
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
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
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
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.
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
Hereditary neuropathy v1.427 FXN Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Hereditary neuropathy v1.427 NOP56_GGCCTGTT Arina Puzriakova Phenotypes for STR: NOP56_GGCCTGTT were changed from to Spinocerebellar ataxia 36, OMIM:614153
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
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
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
Hereditary neuropathy v1.423 FMR1_CGG Arina Puzriakova Tag currently-ngs-unreportable was removed from STR: FMR1_CGG.
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
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
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
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
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
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
Hereditary neuropathy v1.417 CPOX Ivone Leong Tag Q4_21_MOI was removed from gene: CPOX.
Hereditary neuropathy v1.417 CPOX Ivone Leong Tag Q4_21_MOI tag was added to gene: CPOX.
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
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
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
Hereditary neuropathy v1.415 C1orf194 Sarah Leigh Classified gene: C1orf194 as Green List (high evidence)
Hereditary neuropathy v1.415 C1orf194 Sarah Leigh Gene: c1orf194 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.414 C1orf194 Sarah Leigh Entity copied from Hereditary neuropathy NOT PMP22 copy number v1.61
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
Hereditary neuropathy v1.413 C1orf94 Sarah Leigh Tag curated_removed tag was added to gene: C1orf94.
Hereditary neuropathy v1.413 C1orf94 Sarah Leigh Classified gene: C1orf94 as No list
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.
Hereditary neuropathy v1.413 C1orf94 Sarah Leigh Gene: c1orf94 has been removed from the panel.
Hereditary neuropathy v1.412 C1orf94 Sarah Leigh Classified gene: C1orf94 as Green List (high evidence)
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).
Hereditary neuropathy v1.412 C1orf94 Sarah Leigh Gene: c1orf94 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.411 C1orf94 Sarah Leigh Phenotypes for gene: C1orf94 were changed from Intermediate CMT to Intermediate Charcot-Marie-Tooth disease
Hereditary neuropathy v1.410 C1orf94 Sarah Leigh Publications for gene: C1orf94 were set to 31199454
Hereditary neuropathy v1.409 C1orf94 Sarah Leigh Publications for gene: C1orf94 were set to PMID: 31199454
Hereditary neuropathy v1.408 JAG1 Arina Puzriakova Tag watchlist tag was added to gene: JAG1.
Hereditary neuropathy v1.408 JAG1 Arina Puzriakova Phenotypes for gene: JAG1 were changed from Vocal cord palsy to Vocal cord palsy; Peripheral neuropathy
Hereditary neuropathy v1.407 JAG1 Arina Puzriakova Classified gene: JAG1 as Amber List (moderate evidence)
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.
Hereditary neuropathy v1.407 JAG1 Arina Puzriakova Gene: jag1 has been classified as Amber List (Moderate Evidence).
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
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
Hereditary neuropathy v1.404 TFG Arina Puzriakova Publications for gene: TFG were set to
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).
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
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
Hereditary neuropathy v1.401 SPART Arina Puzriakova Mode of inheritance for gene: SPART was changed from to BIALLELIC, autosomal or pseudoautosomal
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
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
Hereditary neuropathy v1.399 SORD Sarah Leigh Classified gene: SORD as Green List (high evidence)
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).
Hereditary neuropathy v1.399 SORD Sarah Leigh Gene: sord has been classified as Green List (High Evidence).
Hereditary neuropathy v1.398 SORD Sarah Leigh Publications for gene: SORD were set to PMID: 32367058
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
Hereditary neuropathy v1.396 VWA1 Sarah Leigh Publications for gene: VWA1 were set to 33559681; 33459760
Hereditary neuropathy v1.395 VWA1 Sarah Leigh Classified gene: VWA1 as Green List (high evidence)
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).
Hereditary neuropathy v1.395 VWA1 Sarah Leigh Gene: vwa1 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.394 VWA1 Sarah Leigh Publications for gene: VWA1 were set to 33459760
Hereditary neuropathy v1.393 VWA1 Sarah Leigh Publications for gene: VWA1 were set to PMID: 33459760
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
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
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'
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
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
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
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
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
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
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
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
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
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
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
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
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.
Hereditary neuropathy v1.383 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Hereditary neuropathy v1.383 C12orf65 Catherine Snow commented on gene: C12orf65
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
Hereditary neuropathy v1.382 PNKP Sarah Leigh Classified gene: PNKP as Green List (high evidence)
Hereditary neuropathy v1.382 PNKP Sarah Leigh Gene: pnkp has been classified as Green List (High Evidence).
Hereditary neuropathy v1.381 PNKP Sarah Leigh reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27066567; Phenotypes: ; Mode of inheritance: None
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.
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
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
Hereditary neuropathy v1.380 MAP1B Arina Puzriakova Classified gene: MAP1B as Red List (low evidence)
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.
Hereditary neuropathy v1.380 MAP1B Arina Puzriakova Gene: map1b has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.379 SPTBN4 Arina Puzriakova Classified gene: SPTBN4 as Green List (high evidence)
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.
Hereditary neuropathy v1.379 SPTBN4 Arina Puzriakova Gene: sptbn4 has been classified as Green List (High Evidence).
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
Hereditary neuropathy v1.377 SMN1 Eleanor Williams Publications for gene: SMN1 were set to
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
Hereditary neuropathy v1.376 DNMT1 Eleanor Williams Publications for gene: DNMT1 were set to 21532572
Hereditary neuropathy v1.375 DNMT1 Eleanor Williams reviewed gene: DNMT1: Rating: ; Mode of pathogenicity: None; Publications: 31984424; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.375 CHCHD10 Eleanor Williams Publications for gene: CHCHD10 were set to 25428574
Hereditary neuropathy v1.374 CHCHD10 Eleanor Williams reviewed gene: CHCHD10: Rating: ; Mode of pathogenicity: None; Publications: 31261376; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.374 PMP22 Eleanor Williams reviewed gene: PMP22: Rating: ; Mode of pathogenicity: None; Publications: 32356557; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.374 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to 12368912; 31439721; 27485015; 16606917; 17893295
Hereditary neuropathy v1.373 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to 12368912; 31439721; 27485015; 12368912; 16606917; 17893295
Hereditary neuropathy v1.372 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to 12368912; 31439721; 27485015
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.
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.
Hereditary neuropathy v1.371 SLC12A6 Sarah Leigh Tag for-review tag was added to gene: SLC12A6.
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
Hereditary neuropathy v1.371 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to 12368912; 31439721
Hereditary neuropathy v1.370 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to 12368912
Hereditary neuropathy v1.369 YARS Sarah Leigh commented on gene: YARS
Hereditary neuropathy v1.369 YARS Sarah Leigh Tag new-gene-name tag was added to gene: YARS.
Hereditary neuropathy v1.369 MCM3AP Eleanor Williams Publications for gene: MCM3AP were set to
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
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
Hereditary neuropathy v1.368 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
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
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
Hereditary neuropathy v1.368 SBF1 Louise Daugherty Tag watchlist was removed from gene: SBF1.
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
Hereditary neuropathy v1.368 AR_CAG Louise Daugherty Classified STR: AR_CAG as Green List (high evidence)
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.
Hereditary neuropathy v1.368 AR_CAG Louise Daugherty Str: ar_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.367 AR_CAG Louise Daugherty Added comment: Comment on publications: added publications to support upgrading from Amber to Green.
Hereditary neuropathy v1.367 AR_CAG Louise Daugherty Publications for STR: AR_CAG were set to
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)
Hereditary neuropathy v1.366 FXN Louise Daugherty Phenotypes for gene: FXN were changed from Hereditary Neuropathies to Hereditary Neuropathies; Friedreich ataxia, 229300
Hereditary neuropathy v1.365 MTTP Louise Daugherty Phenotypes for gene: MTTP were changed from Hereditary Neuropathies to Hereditary Neuropathies; Abetalipoproteinemia, 200100
Hereditary neuropathy v1.364 SCN10A Louise Daugherty Phenotypes for gene: SCN10A were changed from to Episodic pain syndrome, familial, 2, 615551
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
Hereditary neuropathy v1.362 TRPA1 Louise Daugherty Phenotypes for gene: TRPA1 were changed from to Episodic pain syndrome, familial, 1, 615040
Hereditary neuropathy v1.361 TRPA1 Louise Daugherty Mode of inheritance for gene: TRPA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.360 SYT2 Louise Daugherty Mode of inheritance for gene: SYT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.359 SCN10A Louise Daugherty Mode of inheritance for gene: SCN10A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Hereditary neuropathy v1.357 PEX10 Louise Daugherty Mode of inheritance for gene: PEX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.356 MTTP Louise Daugherty Mode of inheritance for gene: MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.355 FXN Louise Daugherty Mode of inheritance for gene: FXN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.354 ATP1A1 Louise Daugherty Mode of inheritance for gene: ATP1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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
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.
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
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
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
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
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
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.
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
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.
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
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
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
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
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
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
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.
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.
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
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
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
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
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
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
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
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.
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
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.
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
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
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.
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
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.
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
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.
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
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
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
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.
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.
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
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
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.
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
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
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
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.
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
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
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.
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
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
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
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
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.
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
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.
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
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
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
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
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
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
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
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
Hereditary neuropathy v1.351 DNAJB2 Louise Daugherty Classified gene: DNAJB2 as Green List (high evidence)
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/.
Hereditary neuropathy v1.351 DNAJB2 Louise Daugherty Gene: dnajb2 has been classified as Green List (High Evidence).
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.
Hereditary neuropathy v1.350 ABCA1 Louise Daugherty Classified gene: ABCA1 as Green List (high evidence)
Hereditary neuropathy v1.350 ABCA1 Louise Daugherty Gene: abca1 has been classified as Green List (High Evidence).
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.
Hereditary neuropathy v1.349 ABCA1 Louise Daugherty Deleted their comment
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
Hereditary neuropathy v1.347 ABCA1 Louise Daugherty Classified gene: ABCA1 as Red List (low evidence)
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
Hereditary neuropathy v1.347 ABCA1 Louise Daugherty Gene: abca1 has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.346 ABCA1 Louise Daugherty edited their review of gene: ABCA1: Changed rating: AMBER
Hereditary neuropathy v1.346 AGXT Louise Daugherty Classified gene: AGXT as Red List (low evidence)
Hereditary neuropathy v1.346 AGXT Louise Daugherty Gene: agxt has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.345 AGXT Louise Daugherty Deleted their comment
Hereditary neuropathy v1.345 AP1S1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.345 AP1S1 Louise Daugherty Classified gene: AP1S1 as Red List (low evidence)
Hereditary neuropathy v1.345 AP1S1 Louise Daugherty Gene: ap1s1 has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.344 AP1S1 Louise Daugherty edited their review of gene: AP1S1: Changed rating: RED
Hereditary neuropathy v1.344 APOA1 Louise Daugherty Classified gene: APOA1 as Red List (low evidence)
Hereditary neuropathy v1.344 APOA1 Louise Daugherty Gene: apoa1 has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.343 APOA1 Louise Daugherty edited their review of gene: APOA1: Changed rating: RED
Hereditary neuropathy v1.343 APOA1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.343 AGXT Louise Daugherty Classified gene: AGXT as Green List (high evidence)
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
Hereditary neuropathy v1.343 AGXT Louise Daugherty Gene: agxt has been classified as Green List (High Evidence).
Hereditary neuropathy v1.342 AP1S1 Louise Daugherty Classified gene: AP1S1 as Green List (high evidence)
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
Hereditary neuropathy v1.342 AP1S1 Louise Daugherty Gene: ap1s1 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.341 AP1S1 Louise Daugherty edited their review of gene: AP1S1: Changed rating: GREEN
Hereditary neuropathy v1.341 APOA1 Louise Daugherty Classified gene: APOA1 as Green List (high evidence)
Hereditary neuropathy v1.341 APOA1 Louise Daugherty Gene: apoa1 has been classified as Green List (High Evidence).
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
Hereditary neuropathy v1.340 APOA1 Louise Daugherty edited their review of gene: APOA1: Changed rating: GREEN
Hereditary neuropathy v1.340 APTX Louise Daugherty Classified gene: APTX as Red List (low evidence)
Hereditary neuropathy v1.340 APTX Louise Daugherty Added comment: Comment on list classification: rating changed due to GMS recommendation
Hereditary neuropathy v1.340 APTX Louise Daugherty Gene: aptx has been classified as Red List (Low Evidence).
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.
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
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.
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
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.
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.
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.
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.
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.
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
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
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
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
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
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
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.
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.
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
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
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty edited their review of gene: ABCA1: Changed rating: GREEN
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty Classified gene: ABCA1 as Green List (high evidence)
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.
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty Gene: abca1 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.338 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease
Hereditary neuropathy v1.337 WARS Louise Daugherty Classified gene: WARS as Green List (high evidence)
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
Hereditary neuropathy v1.337 WARS Louise Daugherty Gene: wars has been classified as Green List (High Evidence).
Hereditary neuropathy v1.336 WARS Louise Daugherty Publications for gene: WARS were set to
Hereditary neuropathy v1.335 Louise Daugherty List of related panels changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease; R78
Hereditary neuropathy v1.334 Antonio Rueda removed STR:NOP56_GGCCTGTT from the panel
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
Hereditary neuropathy v1.333 WARS Louise Daugherty Tag new-gene-name tag was added to gene: WARS.
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
Hereditary neuropathy v1.333 HARS Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
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
Hereditary neuropathy v1.333 MARS Louise Daugherty Tag new-gene-name tag was added to gene: MARS.
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
Hereditary neuropathy v1.333 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
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
Hereditary neuropathy v1.333 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
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
Hereditary neuropathy v1.333 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
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
Hereditary neuropathy v1.333 TTR Louise Daugherty Phenotypes for gene: TTR were changed from Cardiomyopathy to Amyloidosis, hereditary, transthyretin-related, 105210; FAP; Cardiomyopathy
Hereditary neuropathy v1.332 TTR Louise Daugherty Publications for gene: TTR were set to
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
Hereditary neuropathy v1.331 TTR Ellen McDonagh Tag treatable tag was added to gene: TTR.
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
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
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
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
Hereditary neuropathy v1.331 Louise Daugherty removed STR:NOP56_GGCCTGTT from the panel
Hereditary neuropathy v1.330 Louise Daugherty removed STR:NOP56_GGCCTGTT from the panel
Hereditary neuropathy v1.329 NOP56_GGCCTGTT Louise Daugherty Classified STR: NOP56_GGCCTGTT as No list
Hereditary neuropathy v1.329 NOP56_GGCCTGTT Louise Daugherty Added comment: Comment on list classification: this is a test -
Hereditary neuropathy v1.329 NOP56_GGCCTGTT Louise Daugherty Str: nop56_ggcctgtt has been removed from the panel.
Hereditary neuropathy v1.328 Louise Daugherty removed STR:NOP56_GGCCTGTT from the panel
Hereditary neuropathy v1.327 NOP56_GGCCTGTT Louise Daugherty Classified STR: NOP56_GGCCTGTT as Red List (low evidence)
Hereditary neuropathy v1.327 NOP56_GGCCTGTT Louise Daugherty Str: nop56_ggcctgtt has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.326 Louise Daugherty removed STR:NOP56_GGCCTGTT from the panel
Hereditary neuropathy v1.325 NOP56_GGCCTGTT Louise Daugherty Classified STR: NOP56_GGCCTGTT as No list
Hereditary neuropathy v1.325 NOP56_GGCCTGTT Louise Daugherty Str: nop56_ggcctgtt has been removed from the panel.
Hereditary neuropathy v1.324 Louise Daugherty removed STR:NOP56_GGCCTGTT from the panel
Hereditary neuropathy v1.322 Louise Daugherty removed STR:NOP56_GGCCTGTT from the panel
Hereditary neuropathy v1.320 PTEN Louise Daugherty Deleted their comment
Hereditary neuropathy v1.320 PPOX Louise Daugherty Deleted their comment
Hereditary neuropathy v1.320 POLR3A Louise Daugherty Deleted their comment
Hereditary neuropathy v1.320 PNKP Louise Daugherty Deleted their comment
Hereditary neuropathy v1.320 PMM2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.320 FXN_GAA Louise Daugherty reviewed STR: FXN_GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
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.
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.
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.
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.
Hereditary neuropathy v1.316 PPP2R2B_CAG Louise Daugherty Source Expert list was removed from STR: PPP2R2B_CAG.
Hereditary neuropathy v1.315 PPP2R2B_CAG Louise Daugherty Source Expert Review was added to STR: PPP2R2B_CAG.
Hereditary neuropathy v1.314 ATXN7_CAG Louise Daugherty Classified STR: ATXN7_CAG as Amber List (moderate evidence)
Hereditary neuropathy v1.314 ATXN7_CAG Louise Daugherty Str: atxn7_cag has been classified as Amber List (Moderate Evidence).
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
Hereditary neuropathy v1.312 FMR1_CGG Louise Daugherty Classified STR: FMR1_CGG as Amber List (moderate evidence)
Hereditary neuropathy v1.312 FMR1_CGG Louise Daugherty Str: fmr1_cgg has been classified as Amber List (Moderate Evidence).
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
Hereditary neuropathy v1.310 NOP56_GGCCTG Louise Daugherty Classified STR: NOP56_GGCCTG as Amber List (moderate evidence)
Hereditary neuropathy v1.310 NOP56_GGCCTG Louise Daugherty Str: nop56_ggcctg has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy v1.309 NOP56_GGCCTG BRIDGE consortium Deleted their review
Hereditary neuropathy v1.309 NOP56_GGCCTG BRIDGE consortium reviewed STR: NOP56_GGCCTG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
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
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
Hereditary neuropathy v1.308 Louise Daugherty removed STR:FXTS from the panel
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
Hereditary neuropathy v1.306 Louise Daugherty removed STR:FXTS from the panel
Hereditary neuropathy v1.305 PPP2R2B_CAG Louise Daugherty edited their review of STR: PPP2R2B_CAG: Changed rating: GREEN
Hereditary neuropathy v1.305 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as Amber List (moderate evidence)
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
Hereditary neuropathy v1.305 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy v1.304 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as Amber List (moderate evidence)
Hereditary neuropathy v1.304 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been classified as Amber List (Moderate Evidence).
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
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)
Hereditary neuropathy v1.301 AR_CAG Louise Daugherty Classified STR: AR_CAG as Amber List (moderate evidence)
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.
Hereditary neuropathy v1.301 AR_CAG Louise Daugherty Str: ar_cag has been classified as Amber List (Moderate Evidence).
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.
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.
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.
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.
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.
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
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Hereditary neuropathy v1.300 XRCC1 Louise Daugherty reviewed gene: XRCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 XPA Louise Daugherty reviewed gene: XPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 XK Louise Daugherty reviewed gene: XK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 VPS13A Louise Daugherty reviewed gene: VPS13A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 SUCLA2 Louise Daugherty reviewed gene: SUCLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 SLC25A46 Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 SLC25A19 Louise Daugherty reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 SELENOI Louise Daugherty reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 SCYL1 Louise Daugherty reviewed gene: SCYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 SCP2 Louise Daugherty reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 SCARB2 Louise Daugherty reviewed gene: SCARB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 PTRH2 Louise Daugherty reviewed gene: PTRH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 PTEN Louise Daugherty reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.300 PPOX Louise Daugherty reviewed gene: PPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 POLR3A Louise Daugherty reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 PNKP Louise Daugherty reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 PMM2 Louise Daugherty reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 PEX10 Louise Daugherty reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 PDYN Louise Daugherty reviewed gene: PDYN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 OPA3 Louise Daugherty reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 OPA1 Louise Daugherty reviewed gene: OPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 NAGA Louise Daugherty reviewed gene: NAGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 MT-TL1 Louise Daugherty reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 MT-RNR1 Louise Daugherty reviewed gene: MT-RNR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 MMACHC Louise Daugherty reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 KLC2 Louise Daugherty reviewed gene: KLC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 KCNA2 Louise Daugherty reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 IARS2 Louise Daugherty reviewed gene: IARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 HMBS Louise Daugherty reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 GLE1 Louise Daugherty reviewed gene: GLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 GJC2 Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 GBA2 Louise Daugherty reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 GALC Louise Daugherty reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 FLVCR1 Louise Daugherty reviewed gene: FLVCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 FAM126A Louise Daugherty reviewed gene: FAM126A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 FAH Louise Daugherty reviewed gene: FAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 FA2H Louise Daugherty reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 ETFDH Louise Daugherty reviewed gene: ETFDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 ERCC8 Louise Daugherty reviewed gene: ERCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 ERCC6 Louise Daugherty reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 ERBB3 Louise Daugherty reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 DSTYK Louise Daugherty reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 DNAJC3 Louise Daugherty reviewed gene: DNAJC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 DGUOK Louise Daugherty reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 DEGS1 Louise Daugherty reviewed gene: DEGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 DARS2 Louise Daugherty reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 CYP27A1 Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 CPOX Louise Daugherty reviewed gene: CPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 COA7 Louise Daugherty reviewed gene: COA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 CD59 Louise Daugherty reviewed gene: CD59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 C19orf12 Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 BCKDHB Louise Daugherty reviewed gene: BCKDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 B4GALNT1 Louise Daugherty reviewed gene: B4GALNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 ARSA Louise Daugherty reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 ARL6IP1 Louise Daugherty reviewed gene: ARL6IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 APOA1 Louise Daugherty reviewed gene: APOA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 AP1S1 Louise Daugherty reviewed gene: AP1S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 AGXT Louise Daugherty reviewed gene: AGXT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 AGTPBP1 Louise Daugherty reviewed gene: AGTPBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 ABHD12 Louise Daugherty reviewed gene: ABHD12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.300 ABCA1 Louise Daugherty reviewed gene: ABCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Hereditary neuropathy v1.298 ABCA1 Louise Daugherty Publications for gene: ABCA1 were set to
Hereditary neuropathy v1.297 ABCA1 Louise Daugherty Mode of inheritance for gene: ABCA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.296 ABHD12 Louise Daugherty Mode of inheritance for gene: ABHD12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.295 ABHD12 Louise Daugherty Publications for gene: ABHD12 were set to
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
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
Hereditary neuropathy v1.292 AGTPBP1 Louise Daugherty Publications for gene: AGTPBP1 were set to
Hereditary neuropathy v1.291 AGTPBP1 Louise Daugherty Mode of inheritance for gene: AGTPBP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.290 AGXT Louise Daugherty Publications for gene: AGXT were set to
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)
Hereditary neuropathy v1.288 AGXT Louise Daugherty Mode of inheritance for gene: AGXT was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.287 AP1S1 Louise Daugherty Publications for gene: AP1S1 were set to
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
Hereditary neuropathy v1.285 AP1S1 Louise Daugherty Mode of inheritance for gene: AP1S1 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.283 APOA1 Louise Daugherty Publications for gene: APOA1 were set to
Hereditary neuropathy v1.282 APOA1 Louise Daugherty Mode of inheritance for gene: APOA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy v1.281 ARL6IP1 Louise Daugherty Publications for gene: ARL6IP1 were set to
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
Hereditary neuropathy v1.279 ARL6IP1 Louise Daugherty Mode of inheritance for gene: ARL6IP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.277 ARSA Louise Daugherty Mode of inheritance for gene: ARSA was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.276 B4GALNT1 Louise Daugherty Publications for gene: B4GALNT1 were set to
Hereditary neuropathy v1.275 B4GALNT1 Louise Daugherty Mode of inheritance for gene: B4GALNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
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
Hereditary neuropathy v1.272 BCKDHB Louise Daugherty Publications for gene: BCKDHB were set to
Hereditary neuropathy v1.271 BCKDHB Louise Daugherty Mode of inheritance for gene: BCKDHB was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.270 C19orf12 Louise Daugherty Publications for gene: C19orf12 were set to
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
Hereditary neuropathy v1.268 C19orf12 Louise Daugherty Mode of inheritance for gene: C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.268 C19orf12 Louise Daugherty Mode of inheritance for gene: C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.267 CD59 Louise Daugherty Publications for gene: CD59 were set to
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
Hereditary neuropathy v1.265 CD59 Louise Daugherty Mode of inheritance for gene: CD59 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.263 COA7 Louise Daugherty Publications for gene: COA7 were set to
Hereditary neuropathy v1.262 COA7 Louise Daugherty Mode of inheritance for gene: COA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
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
Hereditary neuropathy v1.259 CPOX Louise Daugherty Mode of inheritance for gene: CPOX was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Hereditary neuropathy v1.257 CYP27A1 Louise Daugherty Publications for gene: CYP27A1 were set to 22878431
Hereditary neuropathy v1.256 CYP27A1 Louise Daugherty Publications for gene: CYP27A1 were set to 22878431
Hereditary neuropathy v1.256 CYP27A1 Louise Daugherty Publications for gene: CYP27A1 were set to
Hereditary neuropathy v1.255 CYP27A1 Louise Daugherty Mode of inheritance for gene: CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.253 DARS2 Louise Daugherty Publications for gene: DARS2 were set to
Hereditary neuropathy v1.252 DARS2 Louise Daugherty Mode of inheritance for gene: DARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.251 DEGS1 Louise Daugherty Publications for gene: DEGS1 were set to
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
Hereditary neuropathy v1.249 DEGS1 Louise Daugherty Mode of inheritance for gene: DEGS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.248 DGUOK Louise Daugherty Publications for gene: DGUOK were set to
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
Hereditary neuropathy v1.246 DGUOK Louise Daugherty Mode of inheritance for gene: DGUOK was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.245 DNAJC3 Louise Daugherty Publications for gene: DNAJC3 were set to
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
Hereditary neuropathy v1.243 DNAJC3 Louise Daugherty Mode of inheritance for gene: DNAJC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
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).
Hereditary neuropathy v1.241 DSTYK Louise Daugherty Mode of inheritance for gene: DSTYK was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.240 ERBB3 Louise Daugherty Publications for gene: ERBB3 were set to
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
Hereditary neuropathy v1.238 ERBB3 Louise Daugherty Mode of inheritance for gene: ERBB3 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.236 ERCC6 Louise Daugherty Mode of inheritance for gene: ERCC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.234 ERCC8 Louise Daugherty Mode of inheritance for gene: ERCC8 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.232 ETFDH Louise Daugherty Mode of inheritance for gene: ETFDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.231 FA2H Louise Daugherty Publications for gene: FA2H were set to
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
Hereditary neuropathy v1.229 FA2H Louise Daugherty Mode of inheritance for gene: FA2H was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.227 FAH Louise Daugherty Mode of inheritance for gene: FAH was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.226 FAM126A Louise Daugherty Publications for gene: FAM126A were set to
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
Hereditary neuropathy v1.224 FAM126A Louise Daugherty Mode of inheritance for gene: FAM126A was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.222 FLVCR1 Louise Daugherty Publications for gene: FLVCR1 were set to
Hereditary neuropathy v1.221 FLVCR1 Louise Daugherty Mode of inheritance for gene: FLVCR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.219 GALC Louise Daugherty Mode of inheritance for gene: GALC was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.217 GBA2 Louise Daugherty Publications for gene: GBA2 were set to
Hereditary neuropathy v1.216 GBA2 Louise Daugherty Mode of inheritance for gene: GBA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.214 GJC2 Louise Daugherty Mode of inheritance for gene: GJC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.212 GLE1 Louise Daugherty Publications for gene: GLE1 were set to
Hereditary neuropathy v1.211 GLE1 Louise Daugherty Mode of inheritance for gene: GLE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.209 HMBS Louise Daugherty Mode of inheritance for gene: HMBS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Hereditary neuropathy v1.207 IARS2 Louise Daugherty Publications for gene: IARS2 were set to
Hereditary neuropathy v1.206 IARS2 Louise Daugherty Mode of inheritance for gene: IARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.204 KCNA2 Louise Daugherty Publications for gene: KCNA2 were set to
Hereditary neuropathy v1.203 KCNA2 Louise Daugherty Mode of inheritance for gene: KCNA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Hereditary neuropathy v1.201 KLC2 Louise Daugherty Publications for gene: KLC2 were set to
Hereditary neuropathy v1.200 KLC2 Louise Daugherty Mode of inheritance for gene: KLC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.198 LYST Louise Daugherty Publications for gene: LYST were set to
Hereditary neuropathy v1.197 LYST Louise Daugherty Mode of inheritance for gene: LYST was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.195 MMACHC Louise Daugherty Publications for gene: MMACHC were set to
Hereditary neuropathy v1.194 MMACHC Louise Daugherty Mode of inheritance for gene: MMACHC was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.193 MT-RNR1 Louise Daugherty Phenotypes for gene: MT-RNR1 were changed from to Parkinsonism, deafness, and sensory-motor axonal neuropathy
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
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
Hereditary neuropathy v1.190 NAGA Louise Daugherty Publications for gene: NAGA were set to
Hereditary neuropathy v1.189 NAGA Louise Daugherty Mode of inheritance for gene: NAGA was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.187 OPA1 Louise Daugherty Mode of inheritance for gene: OPA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Hereditary neuropathy v1.185 OPA3 Louise Daugherty Mode of inheritance for gene: OPA3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.183 PDYN Louise Daugherty Publications for gene: PDYN were set to
Hereditary neuropathy v1.182 PDYN Louise Daugherty Mode of inheritance for gene: PDYN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Hereditary neuropathy v1.180 PEX10 Louise Daugherty Publications for gene: PEX10 were set to
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
Hereditary neuropathy v1.178 PMM2 Louise Daugherty Publications for gene: PMM2 were set to
Hereditary neuropathy v1.177 PMM2 Louise Daugherty Mode of inheritance for gene: PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.175 PNKP Louise Daugherty Publications for gene: PNKP were set to
Hereditary neuropathy v1.174 PNKP Louise Daugherty Mode of inheritance for gene: PNKP was changed from to BIALLELIC, autosomal or pseudoautosomal
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
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
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
Hereditary neuropathy v1.170 POLR3A Louise Daugherty Phenotypes for gene: POLR3A were changed from to test
Hereditary neuropathy v1.170 POLR3A Louise Daugherty Phenotypes for gene: POLR3A were changed from to test
Hereditary neuropathy v1.169 POLR3A Louise Daugherty Publications for gene: POLR3A were set to
Hereditary neuropathy v1.168 POLR3A Louise Daugherty Mode of inheritance for gene: POLR3A was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.166 PPOX Louise Daugherty Mode of inheritance for gene: PPOX was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Hereditary neuropathy v1.164 PRKCG Louise Daugherty Publications for gene: PRKCG were set to 26633542
Hereditary neuropathy v1.163 PRKCG Louise Daugherty Mode of inheritance for gene: PRKCG was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
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
Hereditary neuropathy v1.160 PTEN Louise Daugherty Mode of inheritance for gene: PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy v1.159 PTRH2 Louise Daugherty Publications for gene: PTRH2 were set to
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
Hereditary neuropathy v1.157 PTRH2 Louise Daugherty Mode of inheritance for gene: PTRH2 was changed from to BIALLELIC, autosomal or pseudoautosomal
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)
Hereditary neuropathy v1.155 SCARB2 Louise Daugherty Publications for gene: SCARB2 were set to
Hereditary neuropathy v1.154 SCARB2 Louise Daugherty Mode of inheritance for gene: SCARB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.152 SCP2 Louise Daugherty Publications for gene: SCP2 were set to
Hereditary neuropathy v1.151 SCP2 Louise Daugherty Mode of inheritance for gene: SCP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.149 SCYL1 Louise Daugherty Publications for gene: SCYL1 were set to
Hereditary neuropathy v1.148 SCYL1 Louise Daugherty Mode of inheritance for gene: SCYL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.146 SELENOI Louise Daugherty Mode of inheritance for gene: SELENOI was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.144 SLC25A19 Louise Daugherty Publications for gene: SLC25A19 were set to
Hereditary neuropathy v1.143 SLC25A19 Louise Daugherty Mode of inheritance for gene: SLC25A19 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
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
Hereditary neuropathy v1.140 SLC25A46 Louise Daugherty Publications for gene: SLC25A46 were set to
Hereditary neuropathy v1.139 SLC25A46 Louise Daugherty Mode of inheritance for gene: SLC25A46 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.137 SUCLA2 Louise Daugherty Publications for gene: SUCLA2 were set to
Hereditary neuropathy v1.136 SUCLA2 Louise Daugherty Mode of inheritance for gene: SUCLA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
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
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
Hereditary neuropathy v1.132 XPA Louise Daugherty Mode of inheritance for gene: XPA was changed from to BIALLELIC, autosomal or pseudoautosomal
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
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
Hereditary neuropathy v1.129 VPS13A Louise Daugherty Mode of inheritance for gene: VPS13A was changed from to BIALLELIC, autosomal or pseudoautosomal
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
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
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
Hereditary neuropathy v1.125 XPA Louise Daugherty Publications for gene: XPA were set to
Hereditary neuropathy v1.125 XPA Louise Daugherty Publications for gene: XPA were set to
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
Hereditary neuropathy v1.123 XRCC1 Louise Daugherty Publications for gene: XRCC1 were set to
Hereditary neuropathy v1.122 XRCC1 Louise Daugherty Mode of inheritance for gene: XRCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Hereditary neuropathy v1.120 ZFYVE26 Louise Daugherty Source London North GLH was added to ZFYVE26.
Hereditary neuropathy v1.120 VRK1 Louise Daugherty Source London North GLH was added to VRK1.
Hereditary neuropathy v1.120 TWNK Louise Daugherty Source London North GLH was added to TWNK.
Hereditary neuropathy v1.120 TTPA Louise Daugherty Source London North GLH was added to TTPA.
Hereditary neuropathy v1.120 SPG7 Louise Daugherty Source London North GLH was added to SPG7.
Hereditary neuropathy v1.120 SOX10 Louise Daugherty Source London North GLH was added to SOX10.
Hereditary neuropathy v1.120 PTPN11 Louise Daugherty Source London North GLH was added to PTPN11.
Hereditary neuropathy v1.120 PRKCG Louise Daugherty Source London North GLH was added to PRKCG.
Hereditary neuropathy v1.120 PNPLA6 Louise Daugherty Source London North GLH was added to PNPLA6.
Hereditary neuropathy v1.120 PLP1 Louise Daugherty Source London North GLH was added to PLP1.
Hereditary neuropathy v1.120 PDK3 Louise Daugherty Source London North GLH was added to PDK3.
Hereditary neuropathy v1.120 MYH14 Louise Daugherty Source London North GLH was added to MYH14.
Hereditary neuropathy v1.120 MTTP Louise Daugherty Source London North GLH was added to MTTP.
Hereditary neuropathy v1.120 HADHB Louise Daugherty Source London North GLH was added to HADHB.
Hereditary neuropathy v1.120 HADHA Louise Daugherty Source London North GLH was added to HADHA.
Hereditary neuropathy v1.120 DST Louise Daugherty Source London North GLH was added to DST.
Hereditary neuropathy v1.120 DRP2 Louise Daugherty Source London North GLH was added to DRP2.
Hereditary neuropathy v1.119 SELENOI Louise Daugherty Source NHS GMS was added to SELENOI.
Hereditary neuropathy v1.119 SCP2 Louise Daugherty Source NHS GMS was added to SCP2.
Hereditary neuropathy v1.119 DSTYK Louise Daugherty Source NHS GMS was added to DSTYK.
Hereditary neuropathy v1.119 ARL6IP1 Louise Daugherty Source NHS GMS was added to ARL6IP1.
Hereditary neuropathy v1.119 SUCLA2 Louise Daugherty Source NHS GMS was added to SUCLA2.
Hereditary neuropathy v1.119 PTRH2 Louise Daugherty Source NHS GMS was added to PTRH2.
Hereditary neuropathy v1.119 KLC2 Louise Daugherty Source NHS GMS was added to KLC2.
Hereditary neuropathy v1.119 GLE1 Louise Daugherty Source NHS GMS was added to GLE1.
Hereditary neuropathy v1.119 GJC2 Louise Daugherty Source NHS GMS was added to GJC2.
Hereditary neuropathy v1.119 FA2H Louise Daugherty Source NHS GMS was added to FA2H.
Hereditary neuropathy v1.119 ERBB3 Louise Daugherty Source NHS GMS was added to ERBB3.
Hereditary neuropathy v1.119 DGUOK Louise Daugherty Source NHS GMS was added to DGUOK.
Hereditary neuropathy v1.119 C19orf12 Louise Daugherty Source NHS GMS was added to C19orf12.
Hereditary neuropathy v1.119 XRCC1 Louise Daugherty Source NHS GMS was added to XRCC1.
Hereditary neuropathy v1.119 XPA Louise Daugherty Source NHS GMS was added to XPA.
Hereditary neuropathy v1.119 XK Louise Daugherty Source NHS GMS was added to XK.
Hereditary neuropathy v1.119 VPS13A Louise Daugherty Source NHS GMS was added to VPS13A.
Hereditary neuropathy v1.119 SLC25A46 Louise Daugherty Source NHS GMS was added to SLC25A46.
Hereditary neuropathy v1.119 SLC25A19 Louise Daugherty Source NHS GMS was added to SLC25A19.
Hereditary neuropathy v1.119 SCYL1 Louise Daugherty Source NHS GMS was added to SCYL1.
Hereditary neuropathy v1.119 SCARB2 Louise Daugherty Source NHS GMS was added to SCARB2.
Hereditary neuropathy v1.119 PTEN Louise Daugherty Source NHS GMS was added to PTEN.
Hereditary neuropathy v1.119 PPOX Louise Daugherty Source NHS GMS was added to PPOX.
Hereditary neuropathy v1.119 POLR3A Louise Daugherty Source NHS GMS was added to POLR3A.
Hereditary neuropathy v1.119 PNKP Louise Daugherty Source NHS GMS was added to PNKP.
Hereditary neuropathy v1.119 PMM2 Louise Daugherty Source NHS GMS was added to PMM2.
Hereditary neuropathy v1.119 PEX10 Louise Daugherty Source NHS GMS was added to PEX10.
Hereditary neuropathy v1.119 PDYN Louise Daugherty Source NHS GMS was added to PDYN.
Hereditary neuropathy v1.119 OPA3 Louise Daugherty Source NHS GMS was added to OPA3.
Hereditary neuropathy v1.119 OPA1 Louise Daugherty Source NHS GMS was added to OPA1.
Hereditary neuropathy v1.119 NAGA Louise Daugherty Source NHS GMS was added to NAGA.
Hereditary neuropathy v1.119 MT-TL1 Louise Daugherty Source NHS GMS was added to MT-TL1.
Hereditary neuropathy v1.119 MT-RNR1 Louise Daugherty Source NHS GMS was added to MT-RNR1.
Hereditary neuropathy v1.119 MMACHC Louise Daugherty Source NHS GMS was added to MMACHC.
Hereditary neuropathy v1.119 LYST Louise Daugherty Source NHS GMS was added to LYST.
Hereditary neuropathy v1.119 KCNA2 Louise Daugherty Source NHS GMS was added to KCNA2.
Hereditary neuropathy v1.119 IARS2 Louise Daugherty Source NHS GMS was added to IARS2.
Hereditary neuropathy v1.119 HMBS Louise Daugherty Source NHS GMS was added to HMBS.
Hereditary neuropathy v1.119 GBA2 Louise Daugherty Source NHS GMS was added to GBA2.
Hereditary neuropathy v1.119 GALC Louise Daugherty Source NHS GMS was added to GALC.
Hereditary neuropathy v1.119 FLVCR1 Louise Daugherty Source NHS GMS was added to FLVCR1.
Hereditary neuropathy v1.119 FAM126A Louise Daugherty Source NHS GMS was added to FAM126A.
Hereditary neuropathy v1.119 FAH Louise Daugherty Source NHS GMS was added to FAH.
Hereditary neuropathy v1.119 ETFDH Louise Daugherty Source NHS GMS was added to ETFDH.
Hereditary neuropathy v1.119 ERCC8 Louise Daugherty Source NHS GMS was added to ERCC8.
Hereditary neuropathy v1.119 ERCC6 Louise Daugherty Source NHS GMS was added to ERCC6.
Hereditary neuropathy v1.119 DNAJC3 Louise Daugherty Source NHS GMS was added to DNAJC3.
Hereditary neuropathy v1.119 DEGS1 Louise Daugherty Source NHS GMS was added to DEGS1.
Hereditary neuropathy v1.119 DARS2 Louise Daugherty Source NHS GMS was added to DARS2.
Hereditary neuropathy v1.119 CYP27A1 Louise Daugherty Source NHS GMS was added to CYP27A1.
Hereditary neuropathy v1.119 CPOX Louise Daugherty Source NHS GMS was added to CPOX.
Hereditary neuropathy v1.119 COA7 Louise Daugherty Source NHS GMS was added to COA7.
Hereditary neuropathy v1.119 CD59 Louise Daugherty Source NHS GMS was added to CD59.
Hereditary neuropathy v1.119 BCKDHB Louise Daugherty Source NHS GMS was added to BCKDHB.
Hereditary neuropathy v1.119 B4GALNT1 Louise Daugherty Source NHS GMS was added to B4GALNT1.
Hereditary neuropathy v1.119 ARSA Louise Daugherty Source NHS GMS was added to ARSA.
Hereditary neuropathy v1.119 APOA1 Louise Daugherty Source NHS GMS was added to APOA1.
Hereditary neuropathy v1.119 AP1S1 Louise Daugherty Source NHS GMS was added to AP1S1.
Hereditary neuropathy v1.119 AGXT Louise Daugherty Source NHS GMS was added to AGXT.
Hereditary neuropathy v1.119 AGTPBP1 Louise Daugherty Source NHS GMS was added to AGTPBP1.
Hereditary neuropathy v1.119 ABHD12 Louise Daugherty Source NHS GMS was added to ABHD12.
Hereditary neuropathy v1.119 ABCA1 Louise Daugherty Source NHS GMS was added to ABCA1.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Hereditary neuropathy v1.117 WARS Louise Daugherty Mode of inheritance for gene: WARS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.116 PMP2 Louise Daugherty Phenotypes for gene: PMP2 were changed from to Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
Hereditary neuropathy v1.115 PMP2 Louise Daugherty Mode of inheritance for gene: PMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.114 NEFH Louise Daugherty Phenotypes for gene: NEFH were changed from to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924
Hereditary neuropathy v1.114 NEFH Louise Daugherty Phenotypes for gene: NEFH were changed from to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924
Hereditary neuropathy v1.113 NEFH Louise Daugherty Mode of inheritance for gene: NEFH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.112 MCM3AP Louise Daugherty Mode of inheritance for gene: MCM3AP was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.110 HADHB Louise Daugherty Mode of inheritance for gene: HADHB was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.109 HADHA Louise Daugherty Phenotypes for gene: HADHA were changed from to Trifunctional protein deficiency, 609015
Hereditary neuropathy v1.108 HADHB Louise Daugherty Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, 609015
Hereditary neuropathy v1.107 CNTNAP1 Louise Daugherty Mode of inheritance for gene: CNTNAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.106 CNTNAP1 Louise Daugherty Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, 618186
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
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
Hereditary neuropathy v1.103 ZFYVE26 Louise Daugherty Mode of inheritance for gene: ZFYVE26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.102 WARS Louise Daugherty Phenotypes for gene: WARS were changed from to Neuronopathy, distal hereditary motor, type IX, 617721
Hereditary neuropathy v1.101 VCP Louise Daugherty Publications for gene: VCP were set to PMID: 26574898; 25125609; PMID: 25878907
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
Hereditary neuropathy v1.99 TWNK Louise Daugherty Mode of inheritance for gene: TWNK was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.97 TTPA Louise Daugherty Mode of inheritance for gene: TTPA was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.95 SURF1 Louise Daugherty Mode of inheritance for gene: SURF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.93 SPG7 Louise Daugherty Mode of inheritance for gene: SPG7 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.91 SPAST Louise Daugherty Publications for gene: SPAST were set to
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
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
Hereditary neuropathy v1.88 PTPN11 Louise Daugherty Publications for gene: PTPN11 were set to
Hereditary neuropathy v1.87 PTPN11 Louise Daugherty Mode of inheritance for gene: PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy v1.86 MTTP Louise Daugherty Publications for gene: MTTP were set to
Hereditary neuropathy v1.85 DNAJB2 Louise Daugherty Mode of inheritance for gene: DNAJB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.83 PNPLA6 Louise Daugherty Publications for gene: PNPLA6 were set to
Hereditary neuropathy v1.82 PNPLA6 Louise Daugherty Mode of inheritance for gene: PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Hereditary neuropathy v1.81 SPG11 Alexander Rossor Deleted their comment
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
Hereditary neuropathy v1.81 SPAST Alexander Rossor Deleted their comment
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
Hereditary neuropathy v1.81 ZFYVE26 Alexander Rossor Deleted their comment
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
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
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
Hereditary neuropathy v1.81 SPG7 Alexander Rossor Deleted their comment
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
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
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
Hereditary neuropathy v1.81 PTPN11 Alexander Rossor Deleted their review
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
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
Hereditary neuropathy v1.81 PNPLA6 Alexander Rossor Deleted their comment
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
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
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
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
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
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
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)
Hereditary neuropathy v1.81 PDK3 Alexander Rossor edited their review of gene: PDK3: Added comment: Now 2 families, likely pathogenic; Changed rating: AMBER
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
Hereditary neuropathy v1.81 DST Alexander Rossor edited their review of gene: DST: Added comment: 3 families, mouse model; Changed rating: GREEN
Hereditary neuropathy v1.81 DRP2 Alexander Rossor edited their review of gene: DRP2: Added comment: 2 families with functional evidence; Changed rating: GREEN
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
Hereditary neuropathy v1.81 ATL3 Alexander Rossor Deleted their review
Hereditary neuropathy v1.81 GNB4 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.81 VRK1 Louise Daugherty Classified gene: VRK1 as Amber List (moderate evidence)
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
Hereditary neuropathy v1.81 VRK1 Louise Daugherty Gene: vrk1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy v1.80 YARS Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 WNK1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 VCP Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 TYMP Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 TUBB3 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 TTR Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 TRPV4 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 TFG Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SPTLC2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SPTLC1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SPG11 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SPAST Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SMN1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SLC52A3 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SLC52A2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SLC12A6 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SIGMAR1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SH3TC2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SETX Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SEPT9 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SCN9A Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SCN11A Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SBF2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SACS Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 RETREG1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 REEP1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 RAB7A Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 PRX Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 PRPS1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 PRNP Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 PRDM12 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 POLG Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 PMP22 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 PLEKHG5 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 PHYH Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 PEX7 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 PDHA1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 NTRK1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 NGF Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 NEFL Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 NDRG1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 MTMR2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 MT-ATP6 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 MPZ Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 MPV17 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 MORC2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 MME Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 MFN2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 LRSAM1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 LMNA Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 LITAF Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 KIF5A Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 KIF1A Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 INF2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 IGHMBP2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 HSPB8 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 HSPB1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 HK1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 HINT1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 HARS Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 GLA Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 GJB1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 GDAP1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 GARS Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 GAN Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 FIG4 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 FGD4 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 FBLN5 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 ELP1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 EGR2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 DNMT1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 DNM2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 COX6A1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 CHCHD10 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 C12orf65 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 BSCL2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 BICD2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 ATP7A Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 ATM Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 ATL3 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 ATL1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 ARHGEF10 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 APTX Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 AIFM1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 AARS Louise Daugherty Deleted their comment
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
Hereditary neuropathy v1.80 PMP2 Alexander Rossor reviewed gene: PMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.80 CNTNAP1 Alexander Rossor reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.80 ATP1A1 Alexander Rossor reviewed gene: ATP1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.80 ARHGEF10 Alexander Rossor reviewed gene: ARHGEF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.80 ARHGEF10 Alexander Rossor Deleted their review
Hereditary neuropathy v1.80 SURF1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SLC5A7 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SLC52A1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SCN10A Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SBF1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 PMP2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 NEFH Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 MCM3AP Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 MARS Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 HSPB3 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 FXN Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 FBXO38 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 DNAJB2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 DCTN1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 CNTNAP1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 CCT5 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 ATP1A1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SYT2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 WARS Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 TRPA1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 TRIM2 Louise Daugherty Deleted their comment
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Hereditary neuropathy v1.79 WARS Alexander Rossor reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.79 SLC5A7 Alexander Rossor commented on gene: SLC5A7: Additional families now described with very tight phenotype
Hereditary neuropathy v1.79 NEFH Alexander Rossor reviewed gene: NEFH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.79 MCM3AP Alexander Rossor reviewed gene: MCM3AP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.79 FXN Alexander Rossor edited their review of gene: FXN: Added comment: Causes a neuropathy with ataxia; Changed rating: GREEN
Hereditary neuropathy v1.79 DNAJB2 Alexander Rossor commented on gene: DNAJB2: Now reported in multiple series form different countries
Hereditary neuropathy v1.79 DCTN1 Alexander Rossor reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.79 DCTN1 Alexander Rossor Deleted their review
Hereditary neuropathy v1.79 DCTN1 Alexander Rossor Deleted their comment
Hereditary neuropathy v1.79 CRYAB Alexander Rossor commented on gene: CRYAB
Hereditary neuropathy v1.79 CRYAB Alexander Rossor Deleted their review
Hereditary neuropathy v1.79 VCP Alexander Rossor commented on gene: VCP
Hereditary neuropathy v1.79 VCP Alexander Rossor Deleted their review
Hereditary neuropathy v1.79 SEPT9 Louise Daugherty Tag new-gene-name tag was added to gene: SEPT9.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Hereditary neuropathy v1.66 MFN2 Louise Daugherty Deleted their comment
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)
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)
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
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
Hereditary neuropathy v1.63 ZFYVE27 Louise Daugherty reviewed gene: ZFYVE27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 ZFYVE26 Louise Daugherty reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
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
Hereditary neuropathy v1.63 VCL Louise Daugherty reviewed gene: VCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Hereditary neuropathy v1.63 TTPA Louise Daugherty reviewed gene: TTPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TTN Louise Daugherty reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TTBK2 Louise Daugherty reviewed gene: TTBK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
Hereditary neuropathy v1.63 TPM1 Louise Daugherty reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TNNT2 Louise Daugherty reviewed gene: TNNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TNNI3 Louise Daugherty reviewed gene: TNNI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TNNC1 Louise Daugherty reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TMEM43 Louise Daugherty reviewed gene: TMEM43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TDP1 Louise Daugherty reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TCAP Louise Daugherty reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 TAZ Louise Daugherty reviewed gene: TAZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
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.
Hereditary neuropathy v1.63 SPTBN2 Louise Daugherty reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 SPG7 Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 SPG21 Louise Daugherty reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Hereditary neuropathy v1.63 SOX10 Louise Daugherty reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 SOS1 Louise Daugherty reviewed gene: SOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
Hereditary neuropathy v1.63 SLC1A3 Louise Daugherty reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.63 SIL1 Louise Daugherty reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.63 SGCD Louise Daugherty reviewed gene: SGCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
Hereditary neuropathy v1.63 SCN5A Louise Daugherty reviewed gene: SCN5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
Hereditary neuropathy v1.63 RYR2 Louise Daugherty reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 RIT1 Louise Daugherty reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
Hereditary neuropathy v1.63 RBM20 Louise Daugherty reviewed gene: RBM20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 RAF1 Louise Daugherty reviewed gene: RAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.63 PTPN11 Louise Daugherty reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
Hereditary neuropathy v1.63 PRKCG Louise Daugherty reviewed gene: PRKCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 PRKAG2 Louise Daugherty reviewed gene: PRKAG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 PNPLA6 Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.63 PLP1 Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 PLN Louise Daugherty reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.63 PKP2 Louise Daugherty reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 PDLIM3 Louise Daugherty reviewed gene: PDLIM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 PDK3 Louise Daugherty reviewed gene: PDK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.63 NRAS Louise Daugherty reviewed gene: NRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 NIPA1 Louise Daugherty reviewed gene: NIPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.63 NEXN Louise Daugherty reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.63 NEBL Louise Daugherty reviewed gene: NEBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.63 NAGLU Louise Daugherty reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYPN Louise Daugherty reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYOZ2 Louise Daugherty reviewed gene: MYOZ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYL3 Louise Daugherty reviewed gene: MYL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYL2 Louise Daugherty reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYH7 Louise Daugherty reviewed gene: MYH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYH6 Louise Daugherty reviewed gene: MYH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYH14 Louise Daugherty reviewed gene: MYH14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MYBPC3 Louise Daugherty reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MTTP Louise Daugherty reviewed gene: MTTP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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
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.
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.
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.
Hereditary neuropathy v1.63 MED25 Louise Daugherty reviewed gene: MED25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.63 MAP2K2 Louise Daugherty reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 MAP2K1 Louise Daugherty reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
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.
Hereditary neuropathy v1.63 LDB3 Louise Daugherty reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 LAS1L Louise Daugherty reviewed gene: LAS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 LAMP2 Louise Daugherty reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 LAMA4 Louise Daugherty reviewed gene: LAMA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 L1CAM Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 KRAS Louise Daugherty reviewed gene: KRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 KIF1B Louise Daugherty reviewed gene: KIF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 KCNC3 Louise Daugherty reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 KCNA1 Louise Daugherty reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 KARS Louise Daugherty reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 JUP Louise Daugherty reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 JPH2 Louise Daugherty reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 ITPR1 Louise Daugherty reviewed gene: ITPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
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.
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.
Hereditary neuropathy v1.63 HRAS Louise Daugherty reviewed gene: HRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 HOXD10 Louise Daugherty reviewed gene: HOXD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 HADHB Louise Daugherty reviewed gene: HADHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 HADHA Louise Daugherty reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
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.
Hereditary neuropathy v1.63 GATAD1 Louise Daugherty reviewed gene: GATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
Hereditary neuropathy v1.63 GAA Louise Daugherty reviewed gene: GAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.63 FKTN Louise Daugherty reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.63 FGF14 Louise Daugherty reviewed gene: FGF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
Hereditary neuropathy v1.63 EMD Louise Daugherty reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
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.
Hereditary neuropathy v1.63 DTNA Louise Daugherty reviewed gene: DTNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DST Louise Daugherty reviewed gene: DST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DSP Louise Daugherty reviewed gene: DSP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DSG2 Louise Daugherty reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DSC2 Louise Daugherty reviewed gene: DSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DRP2 Louise Daugherty reviewed gene: DRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
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.
Hereditary neuropathy v1.63 DMD Louise Daugherty reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DHTKD1 Louise Daugherty reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DHH Louise Daugherty reviewed gene: DHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 DES Louise Daugherty reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.63 DCAF8 Louise Daugherty reviewed gene: DCAF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 CTDP1 Louise Daugherty reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 CSRP3 Louise Daugherty reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 CRYAB Louise Daugherty reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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
Hereditary neuropathy v1.63 CLTCL1 Louise Daugherty reviewed gene: CLTCL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
Hereditary neuropathy v1.63 CAV3 Louise Daugherty reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 CASQ2 Louise Daugherty reviewed gene: CASQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 CACNB4 Louise Daugherty reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
Hereditary neuropathy v1.63 BRAF Louise Daugherty reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.63 BAG3 Louise Daugherty reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
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.
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.
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.
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.
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.
Hereditary neuropathy v1.63 ANKRD1 Louise Daugherty reviewed gene: ANKRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 ALDH3A2 Louise Daugherty reviewed gene: ALDH3A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.63 ACTN2 Louise Daugherty reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 ACTC1 Louise Daugherty reviewed gene: ACTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.63 ABCC9 Louise Daugherty reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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.
Hereditary neuropathy v1.62 SOX10 Louise Daugherty Mode of inheritance for gene: SOX10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.61 TDP1 Louise Daugherty Mode of inheritance for gene: TDP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.60 ZFYVE27 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: ZFYVE27
Hereditary neuropathy v1.60 ZFYVE26 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: ZFYVE26
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
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
Hereditary neuropathy v1.60 WASHC5 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: WASHC5
Publications for gene WASHC5 were changed from to 27164712
Hereditary neuropathy v1.60 VCL Louise Daugherty Added phenotypes Cardiomyopathy for gene: VCL
Hereditary neuropathy v1.60 TWNK Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: TWNK
Hereditary neuropathy v1.60 TTPA Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: TTPA
Hereditary neuropathy v1.60 TTN Louise Daugherty Added phenotypes Cardiomyopathy for gene: TTN
Hereditary neuropathy v1.60 TTBK2 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: TTBK2
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
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
Hereditary neuropathy v1.60 TPM1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: TPM1
Hereditary neuropathy v1.60 TNNT2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: TNNT2
Hereditary neuropathy v1.60 TNNI3 Louise Daugherty Added phenotypes Cardiomyopathy for gene: TNNI3
Hereditary neuropathy v1.60 TNNC1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: TNNC1
Hereditary neuropathy v1.60 TMEM43 Louise Daugherty Added phenotypes Cardiomyopathy for gene: TMEM43
Hereditary neuropathy v1.60 TDP1 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: TDP1
Publications for gene TDP1 were changed from to 12244316
Hereditary neuropathy v1.60 TCAP Louise Daugherty Added phenotypes Cardiomyopathy for gene: TCAP
Hereditary neuropathy v1.60 TAZ Louise Daugherty Added phenotypes Cardiomyopathy for gene: TAZ
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
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
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
Hereditary neuropathy v1.60 SPTBN2 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SPTBN2
Publications for gene SPTBN2 were changed from to 28333917
Hereditary neuropathy v1.60 SPG7 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SPG7
Hereditary neuropathy v1.60 SPG21 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SPG21
Hereditary neuropathy v1.60 SPART Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SPART
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
Hereditary neuropathy v1.60 SOS1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: SOS1
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
Hereditary neuropathy v1.60 SLC52A1 Louise Daugherty Added phenotypes dHMN; Riboflavin deficiency for gene: SLC52A1
Hereditary neuropathy v1.60 SLC1A3 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SLC1A3
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
Hereditary neuropathy v1.60 SIL1 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SIL1
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
Hereditary neuropathy v1.60 SGCD Louise Daugherty Added phenotypes Cardiomyopathy for gene: SGCD
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
Hereditary neuropathy v1.60 SCN9A Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: SCN9A
Publications for gene SCN9A were changed from to 26392352
Hereditary neuropathy v1.60 SCN5A Louise Daugherty Added phenotypes Cardiomyopathy for gene: SCN5A
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
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
Hereditary neuropathy v1.60 RYR2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: RYR2
Hereditary neuropathy v1.60 RIT1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: RIT1
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
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
Hereditary neuropathy v1.60 RBM20 Louise Daugherty Added phenotypes Cardiomyopathy for gene: RBM20
Hereditary neuropathy v1.60 RAF1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: RAF1
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
Hereditary neuropathy v1.60 PTPN11 Louise Daugherty Added phenotypes Cardiomyopathy for gene: PTPN11
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
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
Hereditary neuropathy v1.60 PRKCG Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: PRKCG
Publications for gene PRKCG were changed from to 26633542
Hereditary neuropathy v1.60 PRKAG2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: PRKAG2
Hereditary neuropathy v1.60 PNPLA6 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: PNPLA6
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
Hereditary neuropathy v1.60 PLP1 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: PLP1
Hereditary neuropathy v1.60 PLN Louise Daugherty Added phenotypes Cardiomyopathy for gene: PLN
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
Hereditary neuropathy v1.60 PKP2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: PKP2
Hereditary neuropathy v1.60 PDLIM3 Louise Daugherty Added phenotypes Cardiomyopathy for gene: PDLIM3
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
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
Hereditary neuropathy v1.60 NRAS Louise Daugherty Added phenotypes Cardiomyopathy for gene: NRAS
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
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
Hereditary neuropathy v1.60 NEXN Louise Daugherty Added phenotypes Cardiomyopathy for gene: NEXN
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
Hereditary neuropathy v1.60 NEBL Louise Daugherty Added phenotypes Cardiomyopathy for gene: NEBL
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
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
Hereditary neuropathy v1.60 MYPN Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYPN
Hereditary neuropathy v1.60 MYOZ2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYOZ2
Hereditary neuropathy v1.60 MYL3 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYL3
Hereditary neuropathy v1.60 MYL2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYL2
Hereditary neuropathy v1.60 MYH7 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYH7
Hereditary neuropathy v1.60 MYH6 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYH6
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
Hereditary neuropathy v1.60 MYBPC3 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MYBPC3
Hereditary neuropathy v1.60 MTTP Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: MTTP
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
Hereditary neuropathy v1.60 MRE11 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: MRE11
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
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
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
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
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
Hereditary neuropathy v1.60 MAP2K2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MAP2K2
Hereditary neuropathy v1.60 MAP2K1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: MAP2K1
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
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
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
Hereditary neuropathy v1.60 LDB3 Louise Daugherty Added phenotypes Cardiomyopathy for gene: LDB3
Hereditary neuropathy v1.60 LAS1L Louise Daugherty Publications for gene LAS1L were changed from to 24647030
Hereditary neuropathy v1.60 LAMP2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: LAMP2
Hereditary neuropathy v1.60 LAMA4 Louise Daugherty Added phenotypes Cardiomyopathy for gene: LAMA4
Hereditary neuropathy v1.60 L1CAM Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: L1CAM
Hereditary neuropathy v1.60 KRAS Louise Daugherty Added phenotypes Cardiomyopathy for gene: KRAS
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
Hereditary neuropathy v1.60 KCNC3 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: KCNC3
Hereditary neuropathy v1.60 KCNA1 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: KCNA1
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
Hereditary neuropathy v1.60 JUP Louise Daugherty Added phenotypes Cardiomyopathy for gene: JUP
Hereditary neuropathy v1.60 JPH2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: JPH2
Hereditary neuropathy v1.60 ITPR1 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: ITPR1
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
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
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
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
Hereditary neuropathy v1.60 HRAS Louise Daugherty Added phenotypes Cardiomyopathy for gene: HRAS
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
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
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
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
Hereditary neuropathy v1.60 GATAD1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: GATAD1
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
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
Hereditary neuropathy v1.60 GAA Louise Daugherty Added phenotypes Cardiomyopathy for gene: GAA
Publications for gene GAA were changed from to 24627108
Hereditary neuropathy v1.60 FXN Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: FXN
Hereditary neuropathy v1.60 FKTN Louise Daugherty Added phenotypes Cardiomyopathy for gene: FKTN
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
Hereditary neuropathy v1.60 FGF14 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: FGF14
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
Hereditary neuropathy v1.60 FBXO38 Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type IID, 615575 for gene: FBXO38
Hereditary neuropathy v1.60 EMD Louise Daugherty Added phenotypes Cardiomyopathy for gene: EMD
Hereditary neuropathy v1.60 ELP1 Louise Daugherty Added phenotypes Dysautonomia, familial, 223900 for gene: ELP1
Publications for gene ELP1 were changed from to 26392352
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
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
Hereditary neuropathy v1.60 DTNA Louise Daugherty Added phenotypes Cardiomyopathy for gene: DTNA
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
Hereditary neuropathy v1.60 DSP Louise Daugherty Added phenotypes Cardiomyopathy for gene: DSP
Hereditary neuropathy v1.60 DSG2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: DSG2
Hereditary neuropathy v1.60 DSC2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: DSC2
Hereditary neuropathy v1.60 DRP2 Louise Daugherty Publications for gene DRP2 were changed from to 29473052; 26227883
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
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
Hereditary neuropathy v1.60 DNAJB2 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: DNAJB2
Hereditary neuropathy v1.60 DMD Louise Daugherty Added phenotypes Cardiomyopathy for gene: DMD
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
Hereditary neuropathy v1.60 DES Louise Daugherty Added phenotypes Cardiomyopathy for gene: DES
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
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
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
Hereditary neuropathy v1.60 CSRP3 Louise Daugherty Added phenotypes Cardiomyopathy for gene: CSRP3
Hereditary neuropathy v1.60 CRYAB Louise Daugherty Added phenotypes Cardiomyopathy for gene: CRYAB
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
Hereditary neuropathy v1.60 COQ8A Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: COQ8A
Hereditary neuropathy v1.60 CLTCL1 Louise Daugherty Publications for gene CLTCL1 were changed from to 26068709
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
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
Hereditary neuropathy v1.60 CAV3 Louise Daugherty Added phenotypes Cardiomyopathy for gene: CAV3
Hereditary neuropathy v1.60 CASQ2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: CASQ2
Hereditary neuropathy v1.60 CACNB4 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: CACNB4
Hereditary neuropathy v1.60 C12orf65 Louise Daugherty Publications for gene C12orf65 were changed from to 24198383; 28091420
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
Hereditary neuropathy v1.60 BRAF Louise Daugherty Added phenotypes Cardiomyopathy for gene: BRAF
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
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
Hereditary neuropathy v1.60 ATP7A Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: ATP7A
Publications for gene ATP7A were changed from to 20170900
Hereditary neuropathy v1.60 ATM Louise Daugherty Added phenotypes Hereditary Neuropathies; Ataxia-telangiectasia for gene: ATM
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
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
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
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
Hereditary neuropathy v1.60 ANKRD1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: ANKRD1
Hereditary neuropathy v1.60 ALDH3A2 Louise Daugherty Added phenotypes Hereditary Neuropathies for gene: ALDH3A2
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
Hereditary neuropathy v1.60 ACTN2 Louise Daugherty Added phenotypes Cardiomyopathy for gene: ACTN2
Hereditary neuropathy v1.60 ACTC1 Louise Daugherty Added phenotypes Cardiomyopathy for gene: ACTC1
Hereditary neuropathy v1.60 ABCC9 Louise Daugherty Added phenotypes Cardiomyopathy for gene: ABCC9
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
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.
Hereditary neuropathy v1.58 ZFYVE27 Natalie Forrester reviewed gene: ZFYVE27: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 ZFYVE26 Natalie Forrester reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
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
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
Hereditary neuropathy v1.58 WASHC5 Natalie Forrester reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: ; Publications: 27164712; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 VCL Natalie Forrester reviewed gene: VCL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 TWNK Natalie Forrester reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 TTPA Natalie Forrester reviewed gene: TTPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 TTN Natalie Forrester reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 TTBK2 Natalie Forrester reviewed gene: TTBK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
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
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
Hereditary neuropathy v1.58 TPM1 Natalie Forrester reviewed gene: TPM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
Hereditary neuropathy v1.58 TNNI3 Natalie Forrester reviewed gene: TNNI3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 TNNC1 Natalie Forrester reviewed gene: TNNC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 TMEM43 Natalie Forrester reviewed gene: TMEM43: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
Hereditary neuropathy v1.58 TCAP Natalie Forrester reviewed gene: TCAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 TAZ Natalie Forrester reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
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
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
Hereditary neuropathy v1.58 SPTBN2 Natalie Forrester reviewed gene: SPTBN2: Rating: RED; Mode of pathogenicity: ; Publications: 28333917; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 SPG7 Natalie Forrester reviewed gene: SPG7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 SPG21 Natalie Forrester reviewed gene: SPG21: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 SPART Natalie Forrester reviewed gene: SPART: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
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
Hereditary neuropathy v1.58 SOS1 Natalie Forrester reviewed gene: SOS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
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
Hereditary neuropathy v1.58 SLC1A3 Natalie Forrester reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
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
Hereditary neuropathy v1.58 SIL1 Natalie Forrester reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
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
Hereditary neuropathy v1.58 SGCD Natalie Forrester reviewed gene: SGCD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
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
Hereditary neuropathy v1.58 SCN5A Natalie Forrester reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
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
Hereditary neuropathy v1.58 RYR2 Natalie Forrester reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 RIT1 Natalie Forrester reviewed gene: RIT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
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
Hereditary neuropathy v1.58 RBM20 Natalie Forrester reviewed gene: RBM20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 RAF1 Natalie Forrester reviewed gene: RAF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
Hereditary neuropathy v1.58 PTPN11 Natalie Forrester reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
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
Hereditary neuropathy v1.58 PRKCG Natalie Forrester reviewed gene: PRKCG: Rating: RED; Mode of pathogenicity: ; Publications: 26633542; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 PRKAG2 Natalie Forrester reviewed gene: PRKAG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 PNPLA6 Natalie Forrester reviewed gene: PNPLA6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
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
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
Hereditary neuropathy v1.58 PLN Natalie Forrester reviewed gene: PLN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
Hereditary neuropathy v1.58 PKP2 Natalie Forrester reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 PDLIM3 Natalie Forrester reviewed gene: PDLIM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
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
Hereditary neuropathy v1.58 NRAS Natalie Forrester reviewed gene: NRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
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
Hereditary neuropathy v1.58 NEXN Natalie Forrester reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
Hereditary neuropathy v1.58 NEBL Natalie Forrester reviewed gene: NEBL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
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
Hereditary neuropathy v1.58 MYPN Natalie Forrester reviewed gene: MYPN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 MYOZ2 Natalie Forrester reviewed gene: MYOZ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 MYL3 Natalie Forrester reviewed gene: MYL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 MYL2 Natalie Forrester reviewed gene: MYL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 MYH7 Natalie Forrester reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 MYH6 Natalie Forrester reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
Hereditary neuropathy v1.58 MYBPC3 Natalie Forrester reviewed gene: MYBPC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 MTTP Natalie Forrester reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
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
Hereditary neuropathy v1.58 MRE11 Natalie Forrester reviewed gene: MRE11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
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
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
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
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
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
Hereditary neuropathy v1.58 MAP2K2 Natalie Forrester reviewed gene: MAP2K2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 MAP2K1 Natalie Forrester reviewed gene: MAP2K1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
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
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
Hereditary neuropathy v1.58 LDB3 Natalie Forrester reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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)
Hereditary neuropathy v1.58 LAMP2 Natalie Forrester reviewed gene: LAMP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 LAMA4 Natalie Forrester reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 L1CAM Natalie Forrester reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 KRAS Natalie Forrester reviewed gene: KRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
Hereditary neuropathy v1.58 KCNC3 Natalie Forrester reviewed gene: KCNC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 KCNA1 Natalie Forrester reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
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
Hereditary neuropathy v1.58 JUP Natalie Forrester reviewed gene: JUP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 JPH2 Natalie Forrester reviewed gene: JPH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 ITPR1 Natalie Forrester reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
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
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
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
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
Hereditary neuropathy v1.58 HRAS Natalie Forrester reviewed gene: HRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
Hereditary neuropathy v1.58 HADHB Natalie Forrester reviewed gene: HADHB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.58 HADHA Natalie Forrester reviewed gene: HADHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
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
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
Hereditary neuropathy v1.58 GATAD1 Natalie Forrester reviewed gene: GATAD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
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
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
Hereditary neuropathy v1.58 FXN Natalie Forrester reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
Hereditary neuropathy v1.58 FKTN Natalie Forrester reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
Hereditary neuropathy v1.58 FGF14 Natalie Forrester reviewed gene: FGF14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
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
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
Hereditary neuropathy v1.58 EMD Natalie Forrester reviewed gene: EMD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
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
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
Hereditary neuropathy v1.58 DTNA Natalie Forrester reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
Hereditary neuropathy v1.58 DSP Natalie Forrester reviewed gene: DSP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 DSG2 Natalie Forrester reviewed gene: DSG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 DSC2 Natalie Forrester reviewed gene: DSC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
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
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
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
Hereditary neuropathy v1.58 DMD Natalie Forrester reviewed gene: DMD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
Hereditary neuropathy v1.58 DHH Natalie Forrester reviewed gene: DHH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.58 DES Natalie Forrester reviewed gene: DES: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
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
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
Hereditary neuropathy v1.58 CSRP3 Natalie Forrester reviewed gene: CSRP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 CRYAB Natalie Forrester reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
Hereditary neuropathy v1.58 COQ8A Natalie Forrester reviewed gene: COQ8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
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
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
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
Hereditary neuropathy v1.58 CAV3 Natalie Forrester reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 CASQ2 Natalie Forrester reviewed gene: CASQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 CACNB4 Natalie Forrester reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
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
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
Hereditary neuropathy v1.58 BRAF Natalie Forrester reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
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
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
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
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
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
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
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
Hereditary neuropathy v1.58 ANKRD1 Natalie Forrester reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 ALDH3A2 Natalie Forrester reviewed gene: ALDH3A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies; Mode of inheritance:
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
Hereditary neuropathy v1.58 ACTN2 Natalie Forrester reviewed gene: ACTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 ACTC1 Natalie Forrester reviewed gene: ACTC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
Hereditary neuropathy v1.58 ABCC9 Natalie Forrester reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance:
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
Hereditary neuropathy v1.57 ZFYVE27 Louise Daugherty Source NHS GMS was added to ZFYVE27.
Hereditary neuropathy v1.57 ZFYVE26 Louise Daugherty Source NHS GMS was added to ZFYVE26.
Hereditary neuropathy v1.57 WASHC5 Louise Daugherty Source NHS GMS was added to WASHC5.
Hereditary neuropathy v1.57 VCL Louise Daugherty Source NHS GMS was added to VCL.
Hereditary neuropathy v1.57 TWNK Louise Daugherty Source NHS GMS was added to TWNK.
Hereditary neuropathy v1.57 TTPA Louise Daugherty Source NHS GMS was added to TTPA.
Hereditary neuropathy v1.57 TTN Louise Daugherty Source NHS GMS was added to TTN.
Hereditary neuropathy v1.57 TTBK2 Louise Daugherty Source NHS GMS was added to TTBK2.
Hereditary neuropathy v1.57 TPM1 Louise Daugherty Source NHS GMS was added to TPM1.
Hereditary neuropathy v1.57 TNNT2 Louise Daugherty Source NHS GMS was added to TNNT2.
Hereditary neuropathy v1.57 TNNI3 Louise Daugherty Source NHS GMS was added to TNNI3.
Hereditary neuropathy v1.57 TNNC1 Louise Daugherty Source NHS GMS was added to TNNC1.
Hereditary neuropathy v1.57 TMEM43 Louise Daugherty Source NHS GMS was added to TMEM43.
Hereditary neuropathy v1.57 TDP1 Louise Daugherty Source NHS GMS was added to TDP1.
Hereditary neuropathy v1.57 TCAP Louise Daugherty Source NHS GMS was added to TCAP.
Hereditary neuropathy v1.57 TAZ Louise Daugherty Source NHS GMS was added to TAZ.
Hereditary neuropathy v1.57 SPTBN2 Louise Daugherty Source NHS GMS was added to SPTBN2.
Hereditary neuropathy v1.57 SPG7 Louise Daugherty Source NHS GMS was added to SPG7.
Hereditary neuropathy v1.57 SPG21 Louise Daugherty Source NHS GMS was added to SPG21.
Hereditary neuropathy v1.57 SPART Louise Daugherty Source NHS GMS was added to SPART.
Hereditary neuropathy v1.57 SOX10 Louise Daugherty Source NHS GMS was added to SOX10.
Hereditary neuropathy v1.57 SOS1 Louise Daugherty Source NHS GMS was added to SOS1.
Hereditary neuropathy v1.57 SLC1A3 Louise Daugherty Source NHS GMS was added to SLC1A3.
Hereditary neuropathy v1.57 SIL1 Louise Daugherty Source NHS GMS was added to SIL1.
Hereditary neuropathy v1.57 SGCD Louise Daugherty Source NHS GMS was added to SGCD.
Hereditary neuropathy v1.57 SCN5A Louise Daugherty Source NHS GMS was added to SCN5A.
Hereditary neuropathy v1.57 RYR2 Louise Daugherty Source NHS GMS was added to RYR2.
Hereditary neuropathy v1.57 RIT1 Louise Daugherty Source NHS GMS was added to RIT1.
Hereditary neuropathy v1.57 RBM20 Louise Daugherty Source NHS GMS was added to RBM20.
Hereditary neuropathy v1.57 RAF1 Louise Daugherty Source NHS GMS was added to RAF1.
Hereditary neuropathy v1.57 PTPN11 Louise Daugherty Source NHS GMS was added to PTPN11.
Hereditary neuropathy v1.57 PRKCG Louise Daugherty Source NHS GMS was added to PRKCG.
Hereditary neuropathy v1.57 PRKAG2 Louise Daugherty Source NHS GMS was added to PRKAG2.
Hereditary neuropathy v1.57 PNPLA6 Louise Daugherty Source NHS GMS was added to PNPLA6.
Hereditary neuropathy v1.57 PLP1 Louise Daugherty Source NHS GMS was added to PLP1.
Hereditary neuropathy v1.57 PLN Louise Daugherty Source NHS GMS was added to PLN.
Hereditary neuropathy v1.57 PKP2 Louise Daugherty Source NHS GMS was added to PKP2.
Hereditary neuropathy v1.57 PDLIM3 Louise Daugherty Source NHS GMS was added to PDLIM3.
Hereditary neuropathy v1.57 PDK3 Louise Daugherty Source NHS GMS was added to PDK3.
Hereditary neuropathy v1.57 NRAS Louise Daugherty Source NHS GMS was added to NRAS.
Hereditary neuropathy v1.57 NIPA1 Louise Daugherty Source NHS GMS was added to NIPA1.
Hereditary neuropathy v1.57 NEXN Louise Daugherty Source NHS GMS was added to NEXN.
Hereditary neuropathy v1.57 NEBL Louise Daugherty Source NHS GMS was added to NEBL.
Hereditary neuropathy v1.57 NAGLU Louise Daugherty Source NHS GMS was added to NAGLU.
Hereditary neuropathy v1.57 MYPN Louise Daugherty Source NHS GMS was added to MYPN.
Hereditary neuropathy v1.57 MYOZ2 Louise Daugherty Source NHS GMS was added to MYOZ2.
Hereditary neuropathy v1.57 MYL3 Louise Daugherty Source NHS GMS was added to MYL3.
Hereditary neuropathy v1.57 MYL2 Louise Daugherty Source NHS GMS was added to MYL2.
Hereditary neuropathy v1.57 MYH7 Louise Daugherty Source NHS GMS was added to MYH7.
Hereditary neuropathy v1.57 MYH6 Louise Daugherty Source NHS GMS was added to MYH6.
Hereditary neuropathy v1.57 MYH14 Louise Daugherty Source NHS GMS was added to MYH14.
Hereditary neuropathy v1.57 MYBPC3 Louise Daugherty Source NHS GMS was added to MYBPC3.
Hereditary neuropathy v1.57 MTTP Louise Daugherty Source NHS GMS was added to MTTP.
Hereditary neuropathy v1.57 MRE11 Louise Daugherty Source NHS GMS was added to MRE11.
Hereditary neuropathy v1.57 MED25 Louise Daugherty Source NHS GMS was added to MED25.
Hereditary neuropathy v1.57 MAP2K2 Louise Daugherty Source NHS GMS was added to MAP2K2.
Hereditary neuropathy v1.57 MAP2K1 Louise Daugherty Source NHS GMS was added to MAP2K1.
Hereditary neuropathy v1.57 LDB3 Louise Daugherty Source NHS GMS was added to LDB3.
Hereditary neuropathy v1.57 LAS1L Louise Daugherty Source NHS GMS was added to LAS1L.
Hereditary neuropathy v1.57 LAMP2 Louise Daugherty Source NHS GMS was added to LAMP2.
Hereditary neuropathy v1.57 LAMA4 Louise Daugherty Source NHS GMS was added to LAMA4.
Hereditary neuropathy v1.57 L1CAM Louise Daugherty Source NHS GMS was added to L1CAM.
Hereditary neuropathy v1.57 KRAS Louise Daugherty Source NHS GMS was added to KRAS.
Hereditary neuropathy v1.57 KIF1B Louise Daugherty Source NHS GMS was added to KIF1B.
Hereditary neuropathy v1.57 KCNC3 Louise Daugherty Source NHS GMS was added to KCNC3.
Hereditary neuropathy v1.57 KCNA1 Louise Daugherty Source NHS GMS was added to KCNA1.
Hereditary neuropathy v1.57 KARS Louise Daugherty Source NHS GMS was added to KARS.
Hereditary neuropathy v1.57 JUP Louise Daugherty Source NHS GMS was added to JUP.
Hereditary neuropathy v1.57 JPH2 Louise Daugherty Source NHS GMS was added to JPH2.
Hereditary neuropathy v1.57 ITPR1 Louise Daugherty Source NHS GMS was added to ITPR1.
Hereditary neuropathy v1.57 HRAS Louise Daugherty Source NHS GMS was added to HRAS.
Hereditary neuropathy v1.57 HOXD10 Louise Daugherty Source NHS GMS was added to HOXD10.
Hereditary neuropathy v1.57 HADHB Louise Daugherty Source NHS GMS was added to HADHB.
Hereditary neuropathy v1.57 HADHA Louise Daugherty Source NHS GMS was added to HADHA.
Hereditary neuropathy v1.57 GATAD1 Louise Daugherty Source NHS GMS was added to GATAD1.
Hereditary neuropathy v1.57 GAA Louise Daugherty Source NHS GMS was added to GAA.
Hereditary neuropathy v1.57 FKTN Louise Daugherty Source NHS GMS was added to FKTN.
Hereditary neuropathy v1.57 FGF14 Louise Daugherty Source NHS GMS was added to FGF14.
Hereditary neuropathy v1.57 EMD Louise Daugherty Source NHS GMS was added to EMD.
Hereditary neuropathy v1.57 DTNA Louise Daugherty Source NHS GMS was added to DTNA.
Hereditary neuropathy v1.57 DST Louise Daugherty Source NHS GMS was added to DST.
Hereditary neuropathy v1.57 DSP Louise Daugherty Source NHS GMS was added to DSP.
Hereditary neuropathy v1.57 DSG2 Louise Daugherty Source NHS GMS was added to DSG2.
Hereditary neuropathy v1.57 DSC2 Louise Daugherty Source NHS GMS was added to DSC2.
Hereditary neuropathy v1.57 DRP2 Louise Daugherty Source NHS GMS was added to DRP2.
Hereditary neuropathy v1.57 DMD Louise Daugherty Source NHS GMS was added to DMD.
Hereditary neuropathy v1.57 DHTKD1 Louise Daugherty Source NHS GMS was added to DHTKD1.
Hereditary neuropathy v1.57 DHH Louise Daugherty Source NHS GMS was added to DHH.
Hereditary neuropathy v1.57 DES Louise Daugherty Source NHS GMS was added to DES.
Hereditary neuropathy v1.57 DCAF8 Louise Daugherty Source NHS GMS was added to DCAF8.
Hereditary neuropathy v1.57 CTDP1 Louise Daugherty Source NHS GMS was added to CTDP1.
Hereditary neuropathy v1.57 CSRP3 Louise Daugherty Source NHS GMS was added to CSRP3.
Hereditary neuropathy v1.57 CRYAB Louise Daugherty Source NHS GMS was added to CRYAB.
Hereditary neuropathy v1.57 COQ8A Louise Daugherty Source NHS GMS was added to COQ8A.
Hereditary neuropathy v1.57 CLTCL1 Louise Daugherty Source NHS GMS was added to CLTCL1.
Hereditary neuropathy v1.57 CAV3 Louise Daugherty Source NHS GMS was added to CAV3.
Hereditary neuropathy v1.57 CASQ2 Louise Daugherty Source NHS GMS was added to CASQ2.
Hereditary neuropathy v1.57 CACNB4 Louise Daugherty Source NHS GMS was added to CACNB4.
Hereditary neuropathy v1.57 BRAF Louise Daugherty Source NHS GMS was added to BRAF.
Hereditary neuropathy v1.57 BAG3 Louise Daugherty Source NHS GMS was added to BAG3.
Hereditary neuropathy v1.57 ANKRD1 Louise Daugherty Source NHS GMS was added to ANKRD1.
Hereditary neuropathy v1.57 ALDH3A2 Louise Daugherty Source NHS GMS was added to ALDH3A2.
Hereditary neuropathy v1.57 ACTN2 Louise Daugherty Source NHS GMS was added to ACTN2.
Hereditary neuropathy v1.57 ACTC1 Louise Daugherty Source NHS GMS was added to ACTC1.
Hereditary neuropathy v1.57 ABCC9 Louise Daugherty Source NHS GMS was added to ABCC9.
Hereditary neuropathy v1.56 ZFYVE27 Louise Daugherty Source South West GLH was added to ZFYVE27.
Hereditary neuropathy v1.56 ZFYVE26 Louise Daugherty Source South West GLH was added to ZFYVE26.
Hereditary neuropathy v1.56 YARS Louise Daugherty Source South West GLH was added to YARS.
Hereditary neuropathy v1.56 WNK1 Louise Daugherty Source South West GLH was added to WNK1.
Hereditary neuropathy v1.56 WASHC5 Louise Daugherty Source South West GLH was added to WASHC5.
Hereditary neuropathy v1.56 VCL Louise Daugherty Source South West GLH was added to VCL.
Hereditary neuropathy v1.56 TWNK Louise Daugherty Source South West GLH was added to TWNK.
Hereditary neuropathy v1.56 TTPA Louise Daugherty Source South West GLH was added to TTPA.
Hereditary neuropathy v1.56 TTN Louise Daugherty Source South West GLH was added to TTN.
Hereditary neuropathy v1.56 TTBK2 Louise Daugherty Source South West GLH was added to TTBK2.
Hereditary neuropathy v1.56 TRPV4 Louise Daugherty Source South West GLH was added to TRPV4.
Hereditary neuropathy v1.56 TRIM2 Louise Daugherty Source South West GLH was added to TRIM2.
Hereditary neuropathy v1.56 TPM1 Louise Daugherty Source South West GLH was added to TPM1.
Hereditary neuropathy v1.56 TNNT2 Louise Daugherty Source South West GLH was added to TNNT2.
Hereditary neuropathy v1.56 TNNI3 Louise Daugherty Source South West GLH was added to TNNI3.
Hereditary neuropathy v1.56 TNNC1 Louise Daugherty Source South West GLH was added to TNNC1.
Hereditary neuropathy v1.56 TMEM43 Louise Daugherty Source South West GLH was added to TMEM43.
Hereditary neuropathy v1.56 TDP1 Louise Daugherty Source South West GLH was added to TDP1.
Hereditary neuropathy v1.56 TCAP Louise Daugherty Source South West GLH was added to TCAP.
Hereditary neuropathy v1.56 TAZ Louise Daugherty Source South West GLH was added to TAZ.
Hereditary neuropathy v1.56 SYT2 Louise Daugherty Source South West GLH was added to SYT2.
Hereditary neuropathy v1.56 SPTLC2 Louise Daugherty Source South West GLH was added to SPTLC2.
Hereditary neuropathy v1.56 SPTLC1 Louise Daugherty Source South West GLH was added to SPTLC1.
Hereditary neuropathy v1.56 SPTBN2 Louise Daugherty Source South West GLH was added to SPTBN2.
Hereditary neuropathy v1.56 SPG7 Louise Daugherty Source South West GLH was added to SPG7.
Hereditary neuropathy v1.56 SPG21 Louise Daugherty Source South West GLH was added to SPG21.
Hereditary neuropathy v1.56 SPART Louise Daugherty Source South West GLH was added to SPART.
Hereditary neuropathy v1.56 SOX10 Louise Daugherty Source South West GLH was added to SOX10.
Hereditary neuropathy v1.56 SOS1 Louise Daugherty Source South West GLH was added to SOS1.
Hereditary neuropathy v1.56 SLC5A7 Louise Daugherty Source South West GLH was added to SLC5A7.
Hereditary neuropathy v1.56 SLC52A1 Louise Daugherty Source South West GLH was added to SLC52A1.
Hereditary neuropathy v1.56 SLC1A3 Louise Daugherty Source South West GLH was added to SLC1A3.
Hereditary neuropathy v1.56 SLC12A6 Louise Daugherty Source South West GLH was added to SLC12A6.
Hereditary neuropathy v1.56 SIL1 Louise Daugherty Source South West GLH was added to SIL1.
Hereditary neuropathy v1.56 SH3TC2 Louise Daugherty Source South West GLH was added to SH3TC2.
Hereditary neuropathy v1.56 SGCD Louise Daugherty Source South West GLH was added to SGCD.
Hereditary neuropathy v1.56 SEPT9 Louise Daugherty Source South West GLH was added to SEPT9.
Hereditary neuropathy v1.56 SCN9A Louise Daugherty Source South West GLH was added to SCN9A.
Hereditary neuropathy v1.56 SCN5A Louise Daugherty Source South West GLH was added to SCN5A.
Hereditary neuropathy v1.56 SBF2 Louise Daugherty Source South West GLH was added to SBF2.
Hereditary neuropathy v1.56 SBF1 Louise Daugherty Source South West GLH was added to SBF1.
Hereditary neuropathy v1.56 RYR2 Louise Daugherty Source South West GLH was added to RYR2.
Hereditary neuropathy v1.56 RIT1 Louise Daugherty Source South West GLH was added to RIT1.
Hereditary neuropathy v1.56 RETREG1 Louise Daugherty Source South West GLH was added to RETREG1.
Hereditary neuropathy v1.56 REEP1 Louise Daugherty Source South West GLH was added to REEP1.
Hereditary neuropathy v1.56 RBM20 Louise Daugherty Source South West GLH was added to RBM20.
Hereditary neuropathy v1.56 RAF1 Louise Daugherty Source South West GLH was added to RAF1.
Hereditary neuropathy v1.56 RAB7A Louise Daugherty Source South West GLH was added to RAB7A.
Hereditary neuropathy v1.56 PTPN11 Louise Daugherty Source South West GLH was added to PTPN11.
Hereditary neuropathy v1.56 PRX Louise Daugherty Source South West GLH was added to PRX.
Hereditary neuropathy v1.56 PRPS1 Louise Daugherty Source South West GLH was added to PRPS1.
Hereditary neuropathy v1.56 PRKCG Louise Daugherty Source South West GLH was added to PRKCG.
Hereditary neuropathy v1.56 PRKAG2 Louise Daugherty Source South West GLH was added to PRKAG2.
Hereditary neuropathy v1.56 PNPLA6 Louise Daugherty Source South West GLH was added to PNPLA6.
Hereditary neuropathy v1.56 PMP22 Louise Daugherty Source South West GLH was added to PMP22.
Hereditary neuropathy v1.56 PLP1 Louise Daugherty Source South West GLH was added to PLP1.
Hereditary neuropathy v1.56 PLN Louise Daugherty Source South West GLH was added to PLN.
Hereditary neuropathy v1.56 PLEKHG5 Louise Daugherty Source South West GLH was added to PLEKHG5.
Hereditary neuropathy v1.56 PKP2 Louise Daugherty Source South West GLH was added to PKP2.
Hereditary neuropathy v1.56 PDLIM3 Louise Daugherty Source South West GLH was added to PDLIM3.
Hereditary neuropathy v1.56 PDK3 Louise Daugherty Source South West GLH was added to PDK3.
Hereditary neuropathy v1.56 NTRK1 Louise Daugherty Source South West GLH was added to NTRK1.
Hereditary neuropathy v1.56 NRAS Louise Daugherty Source South West GLH was added to NRAS.
Hereditary neuropathy v1.56 NIPA1 Louise Daugherty Source South West GLH was added to NIPA1.
Hereditary neuropathy v1.56 NGF Louise Daugherty Source South West GLH was added to NGF.
Hereditary neuropathy v1.56 NEXN Louise Daugherty Source South West GLH was added to NEXN.
Hereditary neuropathy v1.56 NEFL Louise Daugherty Source South West GLH was added to NEFL.
Hereditary neuropathy v1.56 NEBL Louise Daugherty Source South West GLH was added to NEBL.
Hereditary neuropathy v1.56 NDRG1 Louise Daugherty Source South West GLH was added to NDRG1.
Hereditary neuropathy v1.56 NAGLU Louise Daugherty Source South West GLH was added to NAGLU.
Hereditary neuropathy v1.56 MYPN Louise Daugherty Source South West GLH was added to MYPN.
Hereditary neuropathy v1.56 MYOZ2 Louise Daugherty Source South West GLH was added to MYOZ2.
Hereditary neuropathy v1.56 MYL3 Louise Daugherty Source South West GLH was added to MYL3.
Hereditary neuropathy v1.56 MYL2 Louise Daugherty Source South West GLH was added to MYL2.
Hereditary neuropathy v1.56 MYH7 Louise Daugherty Source South West GLH was added to MYH7.
Hereditary neuropathy v1.56 MYH6 Louise Daugherty Source South West GLH was added to MYH6.
Hereditary neuropathy v1.56 MYH14 Louise Daugherty Source South West GLH was added to MYH14.
Hereditary neuropathy v1.56 MYBPC3 Louise Daugherty Source South West GLH was added to MYBPC3.
Hereditary neuropathy v1.56 MTTP Louise Daugherty Source South West GLH was added to MTTP.
Hereditary neuropathy v1.56 MTMR2 Louise Daugherty Source South West GLH was added to MTMR2.
Hereditary neuropathy v1.56 MRE11 Louise Daugherty Source South West GLH was added to MRE11.
Hereditary neuropathy v1.56 MPZ Louise Daugherty Source South West GLH was added to MPZ.
Hereditary neuropathy v1.56 MORC2 Louise Daugherty Source South West GLH was added to MORC2.
Hereditary neuropathy v1.56 MFN2 Louise Daugherty Source South West GLH was added to MFN2.
Hereditary neuropathy v1.56 MED25 Louise Daugherty Source South West GLH was added to MED25.
Hereditary neuropathy v1.56 MARS Louise Daugherty Source South West GLH was added to MARS.
Hereditary neuropathy v1.56 MAP2K2 Louise Daugherty Source South West GLH was added to MAP2K2.
Hereditary neuropathy v1.56 MAP2K1 Louise Daugherty Source South West GLH was added to MAP2K1.
Hereditary neuropathy v1.56 LRSAM1 Louise Daugherty Source South West GLH was added to LRSAM1.
Hereditary neuropathy v1.56 LMNA Louise Daugherty Source South West GLH was added to LMNA.
Hereditary neuropathy v1.56 LITAF Louise Daugherty Source South West GLH was added to LITAF.
Hereditary neuropathy v1.56 LDB3 Louise Daugherty Source South West GLH was added to LDB3.
Hereditary neuropathy v1.56 LAS1L Louise Daugherty Source South West GLH was added to LAS1L.
Hereditary neuropathy v1.56 LAMP2 Louise Daugherty Source South West GLH was added to LAMP2.
Hereditary neuropathy v1.56 LAMA4 Louise Daugherty Source South West GLH was added to LAMA4.
Hereditary neuropathy v1.56 L1CAM Louise Daugherty Source South West GLH was added to L1CAM.
Hereditary neuropathy v1.56 KRAS Louise Daugherty Source South West GLH was added to KRAS.
Hereditary neuropathy v1.56 KIF1B Louise Daugherty Source South West GLH was added to KIF1B.
Hereditary neuropathy v1.56 KCNC3 Louise Daugherty Source South West GLH was added to KCNC3.
Hereditary neuropathy v1.56 KCNA1 Louise Daugherty Source South West GLH was added to KCNA1.
Hereditary neuropathy v1.56 KARS Louise Daugherty Source South West GLH was added to KARS.
Hereditary neuropathy v1.56 JUP Louise Daugherty Source South West GLH was added to JUP.
Hereditary neuropathy v1.56 JPH2 Louise Daugherty Source South West GLH was added to JPH2.
Hereditary neuropathy v1.56 ITPR1 Louise Daugherty Source South West GLH was added to ITPR1.
Hereditary neuropathy v1.56 IGHMBP2 Louise Daugherty Source South West GLH was added to IGHMBP2.
Hereditary neuropathy v1.56 HSPB8 Louise Daugherty Source South West GLH was added to HSPB8.
Hereditary neuropathy v1.56 HSPB3 Louise Daugherty Source South West GLH was added to HSPB3.
Hereditary neuropathy v1.56 HSPB1 Louise Daugherty Source South West GLH was added to HSPB1.
Hereditary neuropathy v1.56 HRAS Louise Daugherty Source South West GLH was added to HRAS.
Hereditary neuropathy v1.56 HOXD10 Louise Daugherty Source South West GLH was added to HOXD10.
Hereditary neuropathy v1.56 HADHB Louise Daugherty Source South West GLH was added to HADHB.
Hereditary neuropathy v1.56 HADHA Louise Daugherty Source South West GLH was added to HADHA.
Hereditary neuropathy v1.56 GNB4 Louise Daugherty Source South West GLH was added to GNB4.
Hereditary neuropathy v1.56 GJB1 Louise Daugherty Source South West GLH was added to GJB1.
Hereditary neuropathy v1.56 GDAP1 Louise Daugherty Source South West GLH was added to GDAP1.
Hereditary neuropathy v1.56 GATAD1 Louise Daugherty Source South West GLH was added to GATAD1.
Hereditary neuropathy v1.56 GARS Louise Daugherty Source South West GLH was added to GARS.
Hereditary neuropathy v1.56 GAN Louise Daugherty Source South West GLH was added to GAN.
Hereditary neuropathy v1.56 GAA Louise Daugherty Source South West GLH was added to GAA.
Hereditary neuropathy v1.56 FXN Louise Daugherty Source South West GLH was added to FXN.
Hereditary neuropathy v1.56 FKTN Louise Daugherty Source South West GLH was added to FKTN.
Hereditary neuropathy v1.56 FIG4 Louise Daugherty Source South West GLH was added to FIG4.
Hereditary neuropathy v1.56 FGF14 Louise Daugherty Source South West GLH was added to FGF14.
Hereditary neuropathy v1.56 FGD4 Louise Daugherty Source South West GLH was added to FGD4.
Hereditary neuropathy v1.56 FBXO38 Louise Daugherty Source South West GLH was added to FBXO38.
Hereditary neuropathy v1.56 EMD Louise Daugherty Source South West GLH was added to EMD.
Hereditary neuropathy v1.56 ELP1 Louise Daugherty Source South West GLH was added to ELP1.
Hereditary neuropathy v1.56 EGR2 Louise Daugherty Source South West GLH was added to EGR2.
Hereditary neuropathy v1.56 DYNC1H1 Louise Daugherty Source South West GLH was added to DYNC1H1.
Hereditary neuropathy v1.56 DTNA Louise Daugherty Source South West GLH was added to DTNA.
Hereditary neuropathy v1.56 DST Louise Daugherty Source South West GLH was added to DST.
Hereditary neuropathy v1.56 DSP Louise Daugherty Source South West GLH was added to DSP.
Hereditary neuropathy v1.56 DSG2 Louise Daugherty Source South West GLH was added to DSG2.
Hereditary neuropathy v1.56 DSC2 Louise Daugherty Source South West GLH was added to DSC2.
Hereditary neuropathy v1.56 DRP2 Louise Daugherty Source South West GLH was added to DRP2.
Hereditary neuropathy v1.56 DNMT1 Louise Daugherty Source South West GLH was added to DNMT1.
Hereditary neuropathy v1.56 DNM2 Louise Daugherty Source South West GLH was added to DNM2.
Hereditary neuropathy v1.56 DNAJB2 Louise Daugherty Source South West GLH was added to DNAJB2.
Hereditary neuropathy v1.56 DMD Louise Daugherty Source South West GLH was added to DMD.
Hereditary neuropathy v1.56 DHTKD1 Louise Daugherty Source South West GLH was added to DHTKD1.
Hereditary neuropathy v1.56 DHH Louise Daugherty Source South West GLH was added to DHH.
Hereditary neuropathy v1.56 DES Louise Daugherty Source South West GLH was added to DES.
Hereditary neuropathy v1.56 DCTN1 Louise Daugherty Source South West GLH was added to DCTN1.
Hereditary neuropathy v1.56 DCAF8 Louise Daugherty Source South West GLH was added to DCAF8.
Hereditary neuropathy v1.56 CTDP1 Louise Daugherty Source South West GLH was added to CTDP1.
Hereditary neuropathy v1.56 CSRP3 Louise Daugherty Source South West GLH was added to CSRP3.
Hereditary neuropathy v1.56 CRYAB Louise Daugherty Source South West GLH was added to CRYAB.
Hereditary neuropathy v1.56 COX6A1 Louise Daugherty Source South West GLH was added to COX6A1.
Hereditary neuropathy v1.56 COQ8A Louise Daugherty Source South West GLH was added to COQ8A.
Hereditary neuropathy v1.56 CLTCL1 Louise Daugherty Source South West GLH was added to CLTCL1.
Hereditary neuropathy v1.56 CHCHD10 Louise Daugherty Source South West GLH was added to CHCHD10.
Hereditary neuropathy v1.56 CCT5 Louise Daugherty Source South West GLH was added to CCT5.
Hereditary neuropathy v1.56 CAV3 Louise Daugherty Source South West GLH was added to CAV3.
Hereditary neuropathy v1.56 CASQ2 Louise Daugherty Source South West GLH was added to CASQ2.
Hereditary neuropathy v1.56 CACNB4 Louise Daugherty Source South West GLH was added to CACNB4.
Hereditary neuropathy v1.56 C12orf65 Louise Daugherty Source South West GLH was added to C12orf65.
Hereditary neuropathy v1.56 BSCL2 Louise Daugherty Source South West GLH was added to BSCL2.
Hereditary neuropathy v1.56 BRAF Louise Daugherty Source South West GLH was added to BRAF.
Hereditary neuropathy v1.56 BICD2 Louise Daugherty Source South West GLH was added to BICD2.
Hereditary neuropathy v1.56 BAG3 Louise Daugherty Source South West GLH was added to BAG3.
Hereditary neuropathy v1.56 ATP7A Louise Daugherty Source South West GLH was added to ATP7A.
Hereditary neuropathy v1.56 ATM Louise Daugherty Source South West GLH was added to ATM.
Hereditary neuropathy v1.56 ATL3 Louise Daugherty Source South West GLH was added to ATL3.
Hereditary neuropathy v1.56 ATL1 Louise Daugherty Source South West GLH was added to ATL1.
Hereditary neuropathy v1.56 ARHGEF10 Louise Daugherty Source South West GLH was added to ARHGEF10.
Hereditary neuropathy v1.56 APTX Louise Daugherty Source South West GLH was added to APTX.
Hereditary neuropathy v1.56 ANKRD1 Louise Daugherty Source South West GLH was added to ANKRD1.
Hereditary neuropathy v1.56 ALDH3A2 Louise Daugherty Source South West GLH was added to ALDH3A2.
Hereditary neuropathy v1.56 AIFM1 Louise Daugherty Source South West GLH was added to AIFM1.
Hereditary neuropathy v1.56 ACTN2 Louise Daugherty Source South West GLH was added to ACTN2.
Hereditary neuropathy v1.56 ACTC1 Louise Daugherty Source South West GLH was added to ACTC1.
Hereditary neuropathy v1.56 ABCC9 Louise Daugherty Source South West GLH was added to ABCC9.
Hereditary neuropathy v1.56 AARS Louise Daugherty Source South West GLH was added to AARS.
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
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
Hereditary neuropathy v1.55 ATXN3_CAG Louise Daugherty reviewed STR: ATXN3_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.55 ATXN2_CAG Louise Daugherty reviewed STR: ATXN2_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.55 ATXN1_CAG Louise Daugherty reviewed STR: ATXN1_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.55 ATXN10_ATTCT Louise Daugherty reviewed STR: ATXN10_ATTCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.55 YARS Louise Daugherty reviewed gene: YARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 WNK1 Louise Daugherty reviewed gene: WNK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 WARS Louise Daugherty reviewed gene: WARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 VCP Louise Daugherty reviewed gene: VCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 TYMP Louise Daugherty reviewed gene: TYMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 TUBB3 Louise Daugherty reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 TTR Louise Daugherty reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Hereditary neuropathy v1.55 TRPA1 Louise Daugherty reviewed gene: TRPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 TRIM2 Louise Daugherty reviewed gene: TRIM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 TFG Louise Daugherty reviewed gene: TFG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SYT2 Louise Daugherty reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SURF1 Louise Daugherty reviewed gene: SURF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SPTLC2 Louise Daugherty reviewed gene: SPTLC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SPTLC1 Louise Daugherty reviewed gene: SPTLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SPG11 Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SPAST Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SMN1 Louise Daugherty reviewed gene: SMN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SLC5A7 Louise Daugherty reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SLC52A3 Louise Daugherty reviewed gene: SLC52A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SLC52A2 Louise Daugherty reviewed gene: SLC52A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SLC52A1 Louise Daugherty reviewed gene: SLC52A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SLC12A6 Louise Daugherty reviewed gene: SLC12A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SIGMAR1 Louise Daugherty reviewed gene: SIGMAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SH3TC2 Louise Daugherty reviewed gene: SH3TC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SETX Louise Daugherty reviewed gene: SETX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SEPT9 Louise Daugherty reviewed gene: SEPT9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SCN9A Louise Daugherty reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SCN11A Louise Daugherty reviewed gene: SCN11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SCN10A Louise Daugherty reviewed gene: SCN10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SBF2 Louise Daugherty reviewed gene: SBF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SBF1 Louise Daugherty reviewed gene: SBF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 SACS Louise Daugherty reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Hereditary neuropathy v1.55 REEP1 Louise Daugherty reviewed gene: REEP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 RAB7A Louise Daugherty reviewed gene: RAB7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PRX Louise Daugherty reviewed gene: PRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PRPS1 Louise Daugherty reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PRNP Louise Daugherty reviewed gene: PRNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PRDM12 Louise Daugherty reviewed gene: PRDM12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 POLG Louise Daugherty reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PMP22 Louise Daugherty reviewed gene: PMP22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PMP2 Louise Daugherty reviewed gene: PMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PLEKHG5 Louise Daugherty reviewed gene: PLEKHG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PHYH Louise Daugherty reviewed gene: PHYH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PEX7 Louise Daugherty reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 PDHA1 Louise Daugherty reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 NTRK1 Louise Daugherty reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 NGF Louise Daugherty reviewed gene: NGF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 NEFL Louise Daugherty reviewed gene: NEFL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 NEFH Louise Daugherty reviewed gene: NEFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 NDRG1 Louise Daugherty reviewed gene: NDRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 MTMR2 Louise Daugherty reviewed gene: MTMR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 MT-ATP6 Louise Daugherty reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 MPZ Louise Daugherty reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 MPV17 Louise Daugherty reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 MORC2 Louise Daugherty reviewed gene: MORC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Hereditary neuropathy v1.55 MFN2 Louise Daugherty reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 MCM3AP Louise Daugherty reviewed gene: MCM3AP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 MARS Louise Daugherty reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 LRSAM1 Louise Daugherty reviewed gene: LRSAM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 LMNA Louise Daugherty reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 LITAF Louise Daugherty reviewed gene: LITAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 KIF5A Louise Daugherty reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 KIF1A Louise Daugherty reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 INF2 Louise Daugherty reviewed gene: INF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 IGHMBP2 Louise Daugherty reviewed gene: IGHMBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 HSPB8 Louise Daugherty reviewed gene: HSPB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 HSPB3 Louise Daugherty reviewed gene: HSPB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 HSPB1 Louise Daugherty reviewed gene: HSPB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 HK1 Louise Daugherty reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 HINT1 Louise Daugherty reviewed gene: HINT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 HARS Louise Daugherty reviewed gene: HARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 GNB4 Louise Daugherty reviewed gene: GNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 GLA Louise Daugherty reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 GJB1 Louise Daugherty reviewed gene: GJB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 GDAP1 Louise Daugherty reviewed gene: GDAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 GARS Louise Daugherty reviewed gene: GARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 GAN Louise Daugherty reviewed gene: GAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 FXN Louise Daugherty reviewed gene: FXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 FIG4 Louise Daugherty reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 FGD4 Louise Daugherty reviewed gene: FGD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 FBXO38 Louise Daugherty reviewed gene: FBXO38: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 FBLN5 Louise Daugherty reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Hereditary neuropathy v1.55 EGR2 Louise Daugherty reviewed gene: EGR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 DYNC1H1 Louise Daugherty reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 DNMT1 Louise Daugherty reviewed gene: DNMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 DNM2 Louise Daugherty reviewed gene: DNM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 DNAJB2 Louise Daugherty reviewed gene: DNAJB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 DCTN1 Louise Daugherty reviewed gene: DCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 COX6A1 Louise Daugherty reviewed gene: COX6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 CNTNAP1 Louise Daugherty reviewed gene: CNTNAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 CHCHD10 Louise Daugherty reviewed gene: CHCHD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 CCT5 Louise Daugherty reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 C12orf65 Louise Daugherty reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 BSCL2 Louise Daugherty reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 BICD2 Louise Daugherty reviewed gene: BICD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 ATP7A Louise Daugherty reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 ATP1A1 Louise Daugherty reviewed gene: ATP1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 ATM Louise Daugherty reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 ATL3 Louise Daugherty reviewed gene: ATL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 ATL1 Louise Daugherty reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 ARHGEF10 Louise Daugherty reviewed gene: ARHGEF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 APTX Louise Daugherty reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 AIFM1 Louise Daugherty reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.55 AARS Louise Daugherty reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.54 ATP1A1 Louise Daugherty Phenotypes for gene: ATP1A1 were changed from to Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Hereditary neuropathy v1.53 ATP1A1 Louise Daugherty Publications for gene: ATP1A1 were set to
Hereditary neuropathy v1.52 YARS James Polke reviewed gene: YARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 WNK1 James Polke reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 WARS James Polke reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 VCP James Polke reviewed gene: VCP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 TYMP James Polke reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 TUBB3 James Polke reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 TTR James Polke reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 TRPV4 James Polke reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 TRPA1 James Polke reviewed gene: TRPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 TRIM2 James Polke reviewed gene: TRIM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 TFG James Polke reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SYT2 James Polke reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SURF1 James Polke reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SPTLC2 James Polke reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 SPTLC1 James Polke reviewed gene: SPTLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 SPG11 James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SPAST James Polke reviewed gene: SPAST: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SMN1 James Polke reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SLC5A7 James Polke reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SLC52A3 James Polke reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SLC52A2 James Polke reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SLC52A1 James Polke reviewed gene: SLC52A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 SLC12A6 James Polke reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SIGMAR1 James Polke reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SH3TC2 James Polke reviewed gene: SH3TC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 SETX James Polke reviewed gene: SETX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 SEPT9 James Polke reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SCN9A James Polke reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 SCN11A James Polke reviewed gene: SCN11A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SCN10A James Polke reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SBF2 James Polke reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 SBF1 James Polke reviewed gene: SBF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SACS James Polke reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 RETREG1 James Polke reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 REEP1 James Polke reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 RAB7A James Polke reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 PRX James Polke reviewed gene: PRX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 PRPS1 James Polke reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 PRNP James Polke reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 PRDM12 James Polke reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 POLG James Polke reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 PMP22 James Polke reviewed gene: PMP22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 PMP2 James Polke reviewed gene: PMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 PLEKHG5 James Polke reviewed gene: PLEKHG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 PHYH James Polke reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 PEX7 James Polke reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 PDHA1 James Polke reviewed gene: PDHA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 NTRK1 James Polke reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 NGF James Polke reviewed gene: NGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 NEFL James Polke reviewed gene: NEFL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 NEFH James Polke reviewed gene: NEFH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 NDRG1 James Polke reviewed gene: NDRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 MTMR2 James Polke reviewed gene: MTMR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 MT-ATP6 James Polke reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 MPZ James Polke reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 MPV17 James Polke reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 MORC2 James Polke reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 MME James Polke reviewed gene: MME: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 MFN2 James Polke reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 MCM3AP James Polke reviewed gene: MCM3AP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 MARS James Polke reviewed gene: MARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 LRSAM1 James Polke reviewed gene: LRSAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 LMNA James Polke reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 LITAF James Polke reviewed gene: LITAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 KIF5A James Polke reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 KIF1A James Polke reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 INF2 James Polke reviewed gene: INF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 IGHMBP2 James Polke reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 HSPB8 James Polke reviewed gene: HSPB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 HSPB3 James Polke reviewed gene: HSPB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 HSPB1 James Polke reviewed gene: HSPB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 HK1 James Polke reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 HINT1 James Polke reviewed gene: HINT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 HARS James Polke reviewed gene: HARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 GNB4 James Polke reviewed gene: GNB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 GLA James Polke reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 GJB1 James Polke reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 GDAP1 James Polke reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 GARS James Polke reviewed gene: GARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 GAN James Polke reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 FXN James Polke reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 FIG4 James Polke reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 FGD4 James Polke reviewed gene: FGD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 FBXO38 James Polke reviewed gene: FBXO38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 FBLN5 James Polke reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 ELP1 James Polke reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 EGR2 James Polke reviewed gene: EGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 DYNC1H1 James Polke reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 DNMT1 James Polke reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 DNM2 James Polke reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 DNAJB2 James Polke reviewed gene: DNAJB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 DCTN1 James Polke reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 COX6A1 James Polke reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 CNTNAP1 James Polke reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 CHCHD10 James Polke reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 CCT5 James Polke reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 C12orf65 James Polke reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 BSCL2 James Polke reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 BICD2 James Polke reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 ATP7A James Polke reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
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:
Hereditary neuropathy v1.52 ATM James Polke reviewed gene: ATM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 ATL3 James Polke reviewed gene: ATL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 ATL1 James Polke reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.52 ARHGEF10 James Polke reviewed gene: ARHGEF10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 APTX James Polke reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 AIFM1 James Polke reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 AARS James Polke reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.51 YARS Louise Daugherty Source NHS GMS was added to YARS.
Hereditary neuropathy v1.51 WNK1 Louise Daugherty Source NHS GMS was added to WNK1.
Hereditary neuropathy v1.51 WARS Louise Daugherty Source NHS GMS was added to WARS.
Hereditary neuropathy v1.51 VCP Louise Daugherty Source NHS GMS was added to VCP.
Hereditary neuropathy v1.51 TYMP Louise Daugherty Source NHS GMS was added to TYMP.
Hereditary neuropathy v1.51 TUBB3 Louise Daugherty Source NHS GMS was added to TUBB3.
Hereditary neuropathy v1.51 TTR Louise Daugherty Source NHS GMS was added to TTR.
Hereditary neuropathy v1.51 TRPV4 Louise Daugherty Source NHS GMS was added to TRPV4.
Hereditary neuropathy v1.51 TRPA1 Louise Daugherty Source NHS GMS was added to TRPA1.
Hereditary neuropathy v1.51 TRIM2 Louise Daugherty Source NHS GMS was added to TRIM2.
Hereditary neuropathy v1.51 TFG Louise Daugherty Source NHS GMS was added to TFG.
Hereditary neuropathy v1.51 SYT2 Louise Daugherty Source NHS GMS was added to SYT2.
Hereditary neuropathy v1.51 SURF1 Louise Daugherty Source NHS GMS was added to SURF1.
Hereditary neuropathy v1.51 SPTLC2 Louise Daugherty Source NHS GMS was added to SPTLC2.
Hereditary neuropathy v1.51 SPTLC1 Louise Daugherty Source NHS GMS was added to SPTLC1.
Hereditary neuropathy v1.51 SPG11 Louise Daugherty Source NHS GMS was added to SPG11.
Hereditary neuropathy v1.51 SPAST Louise Daugherty Source NHS GMS was added to SPAST.
Hereditary neuropathy v1.51 SMN1 Louise Daugherty Source NHS GMS was added to SMN1.
Hereditary neuropathy v1.51 SLC5A7 Louise Daugherty Source NHS GMS was added to SLC5A7.
Hereditary neuropathy v1.51 SLC52A3 Louise Daugherty Source NHS GMS was added to SLC52A3.
Hereditary neuropathy v1.51 SLC52A2 Louise Daugherty Source NHS GMS was added to SLC52A2.
Hereditary neuropathy v1.51 SLC52A1 Louise Daugherty Source NHS GMS was added to SLC52A1.
Hereditary neuropathy v1.51 SLC12A6 Louise Daugherty Source NHS GMS was added to SLC12A6.
Hereditary neuropathy v1.51 SIGMAR1 Louise Daugherty Source NHS GMS was added to SIGMAR1.
Hereditary neuropathy v1.51 SH3TC2 Louise Daugherty Source NHS GMS was added to SH3TC2.
Hereditary neuropathy v1.51 SETX Louise Daugherty Source NHS GMS was added to SETX.
Hereditary neuropathy v1.51 SEPT9 Louise Daugherty Source NHS GMS was added to SEPT9.
Hereditary neuropathy v1.51 SCN9A Louise Daugherty Source NHS GMS was added to SCN9A.
Hereditary neuropathy v1.51 SCN11A Louise Daugherty Source NHS GMS was added to SCN11A.
Hereditary neuropathy v1.51 SCN10A Louise Daugherty Source NHS GMS was added to SCN10A.
Hereditary neuropathy v1.51 SBF2 Louise Daugherty Source NHS GMS was added to SBF2.
Hereditary neuropathy v1.51 SBF1 Louise Daugherty Source NHS GMS was added to SBF1.
Hereditary neuropathy v1.51 SACS Louise Daugherty Source NHS GMS was added to SACS.
Hereditary neuropathy v1.51 RETREG1 Louise Daugherty Source NHS GMS was added to RETREG1.
Hereditary neuropathy v1.51 REEP1 Louise Daugherty Source NHS GMS was added to REEP1.
Hereditary neuropathy v1.51 RAB7A Louise Daugherty Source NHS GMS was added to RAB7A.
Hereditary neuropathy v1.51 PRX Louise Daugherty Source NHS GMS was added to PRX.
Hereditary neuropathy v1.51 PRPS1 Louise Daugherty Source NHS GMS was added to PRPS1.
Hereditary neuropathy v1.51 PRNP Louise Daugherty Source NHS GMS was added to PRNP.
Hereditary neuropathy v1.51 PRDM12 Louise Daugherty Source NHS GMS was added to PRDM12.
Hereditary neuropathy v1.51 POLG Louise Daugherty Source NHS GMS was added to POLG.
Hereditary neuropathy v1.51 PMP22 Louise Daugherty Source NHS GMS was added to PMP22.
Hereditary neuropathy v1.51 PMP2 Louise Daugherty Source NHS GMS was added to PMP2.
Hereditary neuropathy v1.51 PLEKHG5 Louise Daugherty Source NHS GMS was added to PLEKHG5.
Hereditary neuropathy v1.51 PHYH Louise Daugherty Source NHS GMS was added to PHYH.
Hereditary neuropathy v1.51 PEX7 Louise Daugherty Source NHS GMS was added to PEX7.
Hereditary neuropathy v1.51 PDHA1 Louise Daugherty Source NHS GMS was added to PDHA1.
Hereditary neuropathy v1.51 NTRK1 Louise Daugherty Source NHS GMS was added to NTRK1.
Hereditary neuropathy v1.51 NGF Louise Daugherty Source NHS GMS was added to NGF.
Hereditary neuropathy v1.51 NEFL Louise Daugherty Source NHS GMS was added to NEFL.
Hereditary neuropathy v1.51 NEFH Louise Daugherty Source NHS GMS was added to NEFH.
Hereditary neuropathy v1.51 NDRG1 Louise Daugherty Source NHS GMS was added to NDRG1.
Hereditary neuropathy v1.51 MTMR2 Louise Daugherty Source NHS GMS was added to MTMR2.
Hereditary neuropathy v1.51 MT-ATP6 Louise Daugherty Source NHS GMS was added to MT-ATP6.
Hereditary neuropathy v1.51 MPZ Louise Daugherty Source NHS GMS was added to MPZ.
Hereditary neuropathy v1.51 MPV17 Louise Daugherty Source NHS GMS was added to MPV17.
Hereditary neuropathy v1.51 MORC2 Louise Daugherty Source NHS GMS was added to MORC2.
Hereditary neuropathy v1.51 MME Louise Daugherty Source NHS GMS was added to MME.
Hereditary neuropathy v1.51 MFN2 Louise Daugherty Source NHS GMS was added to MFN2.
Hereditary neuropathy v1.51 MCM3AP Louise Daugherty Source NHS GMS was added to MCM3AP.
Hereditary neuropathy v1.51 MARS Louise Daugherty Source NHS GMS was added to MARS.
Hereditary neuropathy v1.51 LRSAM1 Louise Daugherty Source NHS GMS was added to LRSAM1.
Hereditary neuropathy v1.51 LMNA Louise Daugherty Source NHS GMS was added to LMNA.
Hereditary neuropathy v1.51 LITAF Louise Daugherty Source NHS GMS was added to LITAF.
Hereditary neuropathy v1.51 KIF5A Louise Daugherty Source NHS GMS was added to KIF5A.
Hereditary neuropathy v1.51 KIF1A Louise Daugherty Source NHS GMS was added to KIF1A.
Hereditary neuropathy v1.51 INF2 Louise Daugherty Source NHS GMS was added to INF2.
Hereditary neuropathy v1.51 IGHMBP2 Louise Daugherty Source NHS GMS was added to IGHMBP2.
Hereditary neuropathy v1.51 HSPB8 Louise Daugherty Source NHS GMS was added to HSPB8.
Hereditary neuropathy v1.51 HSPB3 Louise Daugherty Source NHS GMS was added to HSPB3.
Hereditary neuropathy v1.51 HSPB1 Louise Daugherty Source NHS GMS was added to HSPB1.
Hereditary neuropathy v1.51 HK1 Louise Daugherty Source NHS GMS was added to HK1.
Hereditary neuropathy v1.51 HINT1 Louise Daugherty Source NHS GMS was added to HINT1.
Hereditary neuropathy v1.51 HARS Louise Daugherty Source NHS GMS was added to HARS.
Hereditary neuropathy v1.51 GNB4 Louise Daugherty Source NHS GMS was added to GNB4.
Hereditary neuropathy v1.51 GLA Louise Daugherty Source NHS GMS was added to GLA.
Hereditary neuropathy v1.51 GJB1 Louise Daugherty Source NHS GMS was added to GJB1.
Hereditary neuropathy v1.51 GDAP1 Louise Daugherty Source NHS GMS was added to GDAP1.
Hereditary neuropathy v1.51 GARS Louise Daugherty Source NHS GMS was added to GARS.
Hereditary neuropathy v1.51 GAN Louise Daugherty Source NHS GMS was added to GAN.
Hereditary neuropathy v1.51 FXN Louise Daugherty Source NHS GMS was added to FXN.
Hereditary neuropathy v1.51 FIG4 Louise Daugherty Source NHS GMS was added to FIG4.
Hereditary neuropathy v1.51 FGD4 Louise Daugherty Source NHS GMS was added to FGD4.
Hereditary neuropathy v1.51 FBXO38 Louise Daugherty Source NHS GMS was added to FBXO38.
Hereditary neuropathy v1.51 FBLN5 Louise Daugherty Source NHS GMS was added to FBLN5.
Hereditary neuropathy v1.51 ELP1 Louise Daugherty Source NHS GMS was added to ELP1.
Hereditary neuropathy v1.51 EGR2 Louise Daugherty Source NHS GMS was added to EGR2.
Hereditary neuropathy v1.51 DYNC1H1 Louise Daugherty Source NHS GMS was added to DYNC1H1.
Hereditary neuropathy v1.51 DNMT1 Louise Daugherty Source NHS GMS was added to DNMT1.
Hereditary neuropathy v1.51 DNM2 Louise Daugherty Source NHS GMS was added to DNM2.
Hereditary neuropathy v1.51 DNAJB2 Louise Daugherty Source NHS GMS was added to DNAJB2.
Hereditary neuropathy v1.51 DCTN1 Louise Daugherty Source NHS GMS was added to DCTN1.
Hereditary neuropathy v1.51 COX6A1 Louise Daugherty Source NHS GMS was added to COX6A1.
Hereditary neuropathy v1.51 CNTNAP1 Louise Daugherty Source NHS GMS was added to CNTNAP1.
Hereditary neuropathy v1.51 CHCHD10 Louise Daugherty Source NHS GMS was added to CHCHD10.
Hereditary neuropathy v1.51 CCT5 Louise Daugherty Source NHS GMS was added to CCT5.
Hereditary neuropathy v1.51 C12orf65 Louise Daugherty Source NHS GMS was added to C12orf65.
Hereditary neuropathy v1.51 BSCL2 Louise Daugherty Source NHS GMS was added to BSCL2.
Hereditary neuropathy v1.51 BICD2 Louise Daugherty Source NHS GMS was added to BICD2.
Hereditary neuropathy v1.51 ATP7A Louise Daugherty Source NHS GMS was added to ATP7A.
Hereditary neuropathy v1.51 ATP1A1 Louise Daugherty Source NHS GMS was added to ATP1A1.
Hereditary neuropathy v1.51 ATM Louise Daugherty Source NHS GMS was added to ATM.
Hereditary neuropathy v1.51 ATL3 Louise Daugherty Source NHS GMS was added to ATL3.
Hereditary neuropathy v1.51 ATL1 Louise Daugherty Source NHS GMS was added to ATL1.
Hereditary neuropathy v1.51 ARHGEF10 Louise Daugherty Source NHS GMS was added to ARHGEF10.
Hereditary neuropathy v1.51 APTX Louise Daugherty Source NHS GMS was added to APTX.
Hereditary neuropathy v1.51 AIFM1 Louise Daugherty Source NHS GMS was added to AIFM1.
Hereditary neuropathy v1.51 AARS Louise Daugherty Source NHS GMS was added to AARS.
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)
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)
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
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)
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)
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)
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)
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)
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
Hereditary neuropathy v1.50 TRIM2 Louise Daugherty Source London North GLH was added to TRIM2.
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)
Hereditary neuropathy v1.50 SYT2 Louise Daugherty Source London North GLH was added to SYT2.
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
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)
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)
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)
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)
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)
Hereditary neuropathy v1.50 SLC5A7 Louise Daugherty Source London North GLH was added to SLC5A7.
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)
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)
Hereditary neuropathy v1.50 SLC52A1 Louise Daugherty Source London North GLH was added to SLC52A1.
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)
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)
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)
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)
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)
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)
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)
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
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)
Hereditary neuropathy v1.50 SBF1 Louise Daugherty Source London North GLH was added to SBF1.
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)
Hereditary neuropathy v1.50 RETREG1 Louise Daugherty Source London North GLH was added to RETREG1.
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)
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)
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)
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)
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)
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)
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)
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)
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
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)
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)
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)
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)
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)
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)
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)
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
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)
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)
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)
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)
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)
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)
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)
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)
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
Hereditary neuropathy v1.50 MARS Louise Daugherty Source London North GLH was added to MARS.
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)
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)
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)
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)
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)
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)
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)
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)
Hereditary neuropathy v1.50 HSPB3 Louise Daugherty Source London North GLH was added to HSPB3.
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)
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)
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)
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)
Hereditary neuropathy v1.50 GNB4 Louise Daugherty Source London North GLH was added to GNB4.
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)
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)
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)
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)
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)
Hereditary neuropathy v1.50 FXN Louise Daugherty Source London North GLH was added to FXN.
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)
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)
Hereditary neuropathy v1.50 FBXO38 Louise Daugherty Source London North GLH was added to FBXO38.
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)
Hereditary neuropathy v1.50 ELP1 Louise Daugherty Source London North GLH was added to ELP1.
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)
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)
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)
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)
Hereditary neuropathy v1.50 DNAJB2 Louise Daugherty Source London North GLH was added to DNAJB2.
Hereditary neuropathy v1.50 DCTN1 Louise Daugherty Source London North GLH was added to DCTN1.
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)
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
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)
Hereditary neuropathy v1.50 CCT5 Louise Daugherty Source London North GLH was added to CCT5.
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)
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)
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)
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)
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
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)
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)
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)
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)
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)
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)
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)
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
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
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
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
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
Hereditary neuropathy v1.44 FXN_GAA Arianna Tucci Phenotypes for STR: FXN_GAA were changed from to Friedreich ataxia 229300
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
Hereditary neuropathy v1.42 ATXN3_CAG Arianna Tucci Phenotypes for STR: ATXN3_CAG were changed from to Machado-Joseph disease 109150
Hereditary neuropathy v1.41 ATXN2_CAG Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090
Hereditary neuropathy v1.41 ATXN2_CAG Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090
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
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
Hereditary neuropathy v1.39 ATXN1_CAG Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400
Hereditary neuropathy v1.38 ATXN10_ATTCT Arianna Tucci Phenotypes for STR: ATXN10_ATTCT were changed from to Spinocerebellar ataxia 10 603516
Hereditary neuropathy v1.37 FXN_GAA Louise Daugherty Tag STR tag was added to STR: FXN_GAA.
Hereditary neuropathy v1.37 ATXN3_CAG Louise Daugherty Tag STR tag was added to STR: ATXN3_CAG.
Hereditary neuropathy v1.37 ATXN2_CAG Louise Daugherty Tag STR tag was added to STR: ATXN2_CAG.
Hereditary neuropathy v1.37 ATXN10_ATTCT Louise Daugherty Tag STR tag was added to STR: ATXN10_ATTCT.
Hereditary neuropathy v1.37 ATXN1_CAG Louise Daugherty Tag STR tag was added to STR: ATXN1_CAG.
Hereditary neuropathy v1.37 ATXN10_ATTCT Arianna Tucci Marked STR: ATXN10_ATTCT as ready
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
Hereditary neuropathy v1.37 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary neuropathy v1.37 ATXN10_ATTCT Arianna Tucci Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary neuropathy v1.37 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
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
Hereditary neuropathy v1.35 ATXN3_CAG Arianna Tucci Marked STR: ATXN3_CAG as ready
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
Hereditary neuropathy v1.35 ATXN3_CAG Arianna Tucci Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.35 ATXN3_CAG Arianna Tucci Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary neuropathy v1.35 ATXN3_CAG Arianna Tucci Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.34 ATXN3_CAG Arianna Tucci Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary neuropathy v1.34 ATXN3_CAG Arianna Tucci Str: atxn3_cag has been classified as Green List (High Evidence).
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
Hereditary neuropathy v1.32 ATXN2_CAG Arianna Tucci Marked STR: ATXN2_CAG as ready
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
Hereditary neuropathy v1.32 ATXN2_CAG Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.32 ATXN2_CAG Arianna Tucci Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary neuropathy v1.32 ATXN2_CAG Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.32 ATXN2_CAG Arianna Tucci Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary neuropathy v1.32 ATXN2_CAG Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence).
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
Hereditary neuropathy v1.30 ATXN1_CAG Arianna Tucci Marked STR: ATXN1_CAG as ready
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
Hereditary neuropathy v1.30 ATXN1_CAG Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.30 ATXN1_CAG Arianna Tucci Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary neuropathy v1.30 ATXN1_CAG Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
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
Hereditary neuropathy v1.28 FXN_GAA Arianna Tucci Marked STR: FXN_GAA as ready
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
Hereditary neuropathy v1.28 FXN_GAA Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary neuropathy v1.28 FXN_GAA Arianna Tucci Classified STR: FXN_GAA as Green List (high evidence)
Hereditary neuropathy v1.28 FXN_GAA Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary neuropathy v1.28 FXN_GAA Arianna Tucci Classified STR: FXN_GAA as Green List (high evidence)
Hereditary neuropathy v1.28 FXN_GAA Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
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
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
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
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
Hereditary neuropathy SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Hereditary neuropathy MME Helen Brittain marked gene: MME as ready
Hereditary neuropathy MME Helen Brittain classified MME as Green List (high evidence)
Hereditary neuropathy SYT2 Ellen McDonagh commented on gene: SYT2
Hereditary neuropathy SYT2 Ellen McDonagh classified SYT2 as Amber List (moderate evidence)
Hereditary neuropathy SMN1 Ellen McDonagh edited their review of SMN1
Hereditary neuropathy GDAP1 Ellen McDonagh edited their review of GDAP1
Hereditary neuropathy HSPB1 Ellen McDonagh edited their review of HSPB1
Hereditary neuropathy SPG20 Louise Daugherty commented on SPG20
Hereditary neuropathy IKBKAP Louise Daugherty commented on IKBKAP
Hereditary neuropathy MORC2 Ellen McDonagh classified MORC2 as green
Hereditary neuropathy FAM134B Louise Daugherty commented on FAM134B
Hereditary neuropathy MME Ellen McDonagh classified MME as amber
Hereditary neuropathy MME Ellen McDonagh commented on MME
Hereditary neuropathy MORC2 Ellen McDonagh classified MORC2 as amber
Hereditary neuropathy MORC2 Ellen McDonagh added MORC2 to panel
Hereditary neuropathy MORC2 Ellen McDonagh reviewed MORC2
Hereditary neuropathy SBF1 Alice Gardham reviewed SBF1
Hereditary neuropathy MME Alice Gardham reviewed MME
Hereditary neuropathy PRPS1 Sarah Leigh reviewed PRPS1
Hereditary neuropathy KIAA0196 Louise Daugherty commented on KIAA0196
Hereditary neuropathy C10orf2 Louise Daugherty commented on C10orf2
Hereditary neuropathy MRE11A Louise Daugherty commented on MRE11A
Hereditary neuropathy ADCK3 Louise Daugherty commented on ADCK3
Hereditary neuropathy MME Ellen Thomas added MME to panel
Hereditary neuropathy MME Ellen Thomas reviewed MME