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| Hereditary neuropathy or pain disorder v3.24 | Eleanor Williams Panel name changed from Hereditary neuropathy or pain disorder - NOT PMP22 copy number to Hereditary neuropathy or pain disorder | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.23 | Eleanor Williams List of related panels changed from Hereditary neuropathy NOT PMP22 copy number; R78 to Hereditary neuropathy NOT PMP22 copy number; Hereditary neuropathy or pain disorder - NOT PMP22 copy number; R78 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.30 | Eleanor Williams List of related panels changed from Hereditary neuropathy or pain disorder - NOT PMP22 copy number; Hereditary neuropathy NOT PMP22 copy number; R78 to Hereditary neuropathy NOT PMP22 copy number; R78 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.29 |
Sarah Leigh Panel name changed from Hereditary neuropathy NOT PMP22 copy number to Hereditary neuropathy or pain disorder - NOT PMP22 copy number List of related panels changed from R78; Hereditary neuropathy or pain disorder - NOT PMP22 copy number to Hereditary neuropathy or pain disorder - NOT PMP22 copy number; Hereditary neuropathy NOT PMP22 copy number; R78 |
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| Hereditary neuropathy or pain disorder v2.21 | MAG |
Arina Puzriakova gene: MAG was added gene: MAG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review Amber,Literature,Yorkshire and North East GLH,London North GLH Q1_23_promote_green tags were added to gene: MAG. Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAG were set to 24482476; 26179919; 31402626; 32629324; 32340215 Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, OMIM:616680 |
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| Hereditary neuropathy or pain disorder v2.19 | ISCA-37436-Loss |
Arina Puzriakova Region: ISCA-37436-Loss was added Region: ISCA-37436-Loss was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37436-Loss were set to 20301566 |
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| Hereditary neuropathy or pain disorder v2.19 | ISCA-37436-Gain |
Arina Puzriakova Region: ISCA-37436-Gain was added Region: ISCA-37436-Gain was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37436-Gain were set to 20301384 |
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| Hereditary neuropathy or pain disorder v1.106 | Eleanor Williams List of related panels changed from R78; Hereditary neuropathy or pain disorder – NOT PMP22 copy number to R78; Hereditary neuropathy or pain disorder - NOT PMP22 copy number | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.88 | PCYT2 |
Dmitrijs Rots gene: PCYT2 was added gene: PCYT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to PMID: 35243002 Review for gene: PCYT2 was set to AMBER Added comment: Two brother with axonal neuropathy reported in PMID: 35243002. In the same study, after reviewing previously published cases, other individuals (2/10) had sensory deficit / neuropathy: "Of 5 previously reported adult patients (age range of 20–59 years),2-6 nerve conduction studies were performed in 2 of them and reported as normal.3,4 Clinically, one of them had hypopallesthesia of the ankles,4 and the other had loss of vibration sense in the lower limbs and mild loss of proprioception in the feet". Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.80 | SLC5A6 |
Ian Berry gene: SLC5A6 was added gene: SLC5A6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to PMID: 35013551 Phenotypes for gene: SLC5A6 were set to motor neuropathy Penetrance for gene: SLC5A6 were set to Complete Review for gene: SLC5A6 was set to GREEN Added comment: Five individuals reported including three siblings with identical genotypes. Targeted therapy with biotin (therapeutic in other manifestations of this gene and in other biotin transporter deficiencies) improved phenotype in patients. Sources: NHS GMS |
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| Hereditary neuropathy or pain disorder v1.68 | RFC1 |
Eleanor Williams gene: RFC1 was added gene: RFC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Red,Expert Review STR tags were added to gene: RFC1. Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFC1 were set to 30926972; 31824583; 32851396; 32582864; 33969391 Phenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575; cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, MONDO:0013809; chronic idiopathic axonal polyneuropathy; chronic polyneuropathy, MONDO:0003335 Mode of pathogenicity for gene: RFC1 was set to Other |
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| Hereditary neuropathy or pain disorder v1.67 | HEXA |
Evan Reid gene: HEXA was added gene: HEXA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXA were set to PMID: 28739864; 18642377 Penetrance for gene: HEXA were set to Complete Review for gene: HEXA was set to GREEN Added comment: Both HEXA and HEXB autosomal recessive mutations can be associated with a late onset motor neuropathy, sometimes quite mild and sometimes resembling ALS. We missed diagnosis of a patient with a late onset motor neuropathy as HEXB is not on the neuropathy panel. I would suggest that HEXA and HEXB should both be included on this panel. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.67 | HEXB |
Evan Reid gene: HEXB was added gene: HEXB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXB were set to PMID: 31512525 Penetrance for gene: HEXB were set to Complete |
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| Hereditary neuropathy or pain disorder v1.64 | TECPR2 |
Dmitrijs Rots gene: TECPR2 was added gene: TECPR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TECPR2 were set to PubMed: 33847017 Phenotypes for gene: TECPR2 were set to Hereditary sensory and autonomic neuropathy Penetrance for gene: TECPR2 were set to unknown Review for gene: TECPR2 was set to GREEN Added comment: Neuser et al. (2021) reported clinical findings in 17 patients, including 2 sib pairs, from 15 families segregating HSAN9. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.63 | COX20 |
Zornitza Stark gene: COX20 was added gene: COX20 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX20 were set to 33751098 Phenotypes for gene: COX20 were set to Neuropathy Review for gene: COX20 was set to GREEN gene: COX20 was marked as current diagnostic Added comment: Well established association with mitochondrial disease, presentation with neuropathy reported PMID 33751098 Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.57 | C1orf94 |
Sarah Leigh gene: C1orf94 was added gene: C1orf94 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: C1orf94 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: C1orf94 were set to 31199454; 32592472 Phenotypes for gene: C1orf94 were set to Intermediate Charcot-Marie-Tooth disease Penetrance for gene: C1orf94 were set to Complete Mode of pathogenicity for gene: C1orf94 was set to Other |
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| Hereditary neuropathy or pain disorder v1.37 |
Ivone Leong List of related panels changed from R78 to R78; Hereditary neuropathy or pain disorder – NOT PMP22 copy number Panel version 1.36 has been signed off on 2021-08-05 |
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| Hereditary neuropathy or pain disorder v1.30 | GSN |
Dmitrijs Rots gene: GSN was added gene: GSN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GSN were set to PMID: 33499149; 26339870 Phenotypes for gene: GSN were set to Amyloidosis; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy; arrhytmia Penetrance for gene: GSN were set to Complete Review for gene: GSN was set to GREEN gene: GSN was marked as current diagnostic Added comment: Causes Amyloidosis, Finnish type with multisystem involvement. Peripheral and cranial neuropathy each reported in >70% of patients from >200 big cohort from Finland. PMID:26339870. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.25 | CADM3 |
Zornitza Stark gene: CADM3 was added gene: CADM3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: CADM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CADM3 were set to 33889941 Phenotypes for gene: CADM3 were set to Charcot-Marie-Tooth disease Review for gene: CADM3 was set to AMBER Added comment: Three families reported with the same missense variant in CADM3, p.Tyr172Cys (one family de novo), with functional work in mice to show reduced expression of the mutant protein in axons and abnormal axonal organization. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.25 | PIGB |
Dmitrijs Rots gene: PIGB was added gene: PIGB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGB were set to 31256876 Phenotypes for gene: PIGB were set to intellectual disability; developmental delay; epilepsy; axonal neuropathy Penetrance for gene: PIGB were set to Complete Review for gene: PIGB was set to GREEN gene: PIGB was marked as current diagnostic Added comment: Murakami et al., reported 10 cases with biallelic PIGB variants with complex and severe phenotype, of whom 4 had peripheral neuropathy. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.25 | VWA1 |
Ian Berry gene: VWA1 was added gene: VWA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS Mode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VWA1 were set to PMID: 33559681 Phenotypes for gene: VWA1 were set to axonal hereditary motor neuropathy; myopathy Penetrance for gene: VWA1 were set to unknown Review for gene: VWA1 was set to GREEN gene: VWA1 was marked as current diagnostic Added comment: 17 individuals from 15 families, recurrent 10bp repeat allele causative in all patients. Detected in 100K so clearly tractable by WGS. Sources: NHS GMS |
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| Hereditary neuropathy or pain disorder v1.24 | DHX9 |
Arina Puzriakova gene: DHX9 was added gene: DHX9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Other watchlist tags were added to gene: DHX9. Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DHX9 were set to Adult-onset axonal neuropathy Added comment: Conference poster (Genomics of Rare Disease 2021) - 'DExH-box helicase 9 (DHX9) is a candidate hereditary axonal neuropathy gene' by Fatih et al, Baylor College of Medicine - Report three unrelated individuals with adult-onset axonal neuropathy (age of onset: 41, 49, and 12 years old, respectively). Clinical features include limb weakness (3), muscle atrophy (2), diminished sensation in feet (2; plus in hands in 1 individual), ataxic gait (1), and painful neuropathy (1). All subjects exhibited neurogenic changes on EMG, and 2 cases also had normal or absent motor and sensory NCV. Exome sequencing revealed distinct heterozygous variants in the DHX9 gene ([c.2537A>G, p.Asp846Gly]; [c.2510G>C, p.Arg837Thr]; [c.3763G>A, p.Ala1255Thr]). Segregation data was only available for one case, showing de novo occurrence. No functional data presented. These variants have to be validated and currently DHX9 is deemed a candidate gene. No other publications in relation to this gene and phenotype are available in PubMed at this time. Baylor College of Medicine POC: Dr. Daniel Calame, [email protected] Sources: Other |
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| Hereditary neuropathy or pain disorder v1.23 | SPTAN1 |
Zornitza Stark gene: SPTAN1 was added gene: SPTAN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTAN1 were set to 20493457; 22258530; 32811770 Phenotypes for gene: SPTAN1 were set to Hereditary motor neuropathy Review for gene: SPTAN1 was set to GREEN gene: SPTAN1 was marked as current diagnostic Added comment: Gene previously associated with DEE. PMID 32811770: 13 affected individuals from 4 families reported (nonsense variants) with AD distal hereditary motor neuropathy. Variable penetrance was noted and phenotype severity differs greatly between patients. Functional studies show NMD and reduced protein levels in patient cells. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.23 | POLR3B |
Zornitza Stark gene: POLR3B was added gene: POLR3B was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: POLR3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR3B were set to 33417887 Phenotypes for gene: POLR3B were set to Ataxia, spasticity, and demyelinating neuropathy Review for gene: POLR3B was set to GREEN Added comment: Note biallelic variants cause a leukodystrophy. New MOI and new phenotype reported in PMID: 33417887: Six unrelated individuals with de novo missense variants and ataxia, spasticity, variable intellectual disability and epilepsy, and predominantly demyelinating sensory motor peripheral neuropathy. Protein modeling and proteomic analysis shows variants caused aberrant association of individual enzyme subunits rather than affecting overall enzyme assembly or stability. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.23 | SORD |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics) and recommended to be Green by David Hunt (Wessex Clinical Genetics Service). "Given that this is a potentially treatable neuropathy (https://www.ucl.ac.uk/ion/news/2020/may/sord-neuropathy-accelerated-journey-gene-identification-effective-treatment-patients), I think that SORD should be included in the ‘Hereditary neuropathy NOT PMP22 copy number’ gene panel." There is enough evidence to support a gene-disease association and this gene should be Green at the next review. |
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| Hereditary neuropathy or pain disorder v1.18 | UBA5 |
Arina Puzriakova gene: UBA5 was added gene: UBA5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBA5 were set to 32179706 Phenotypes for gene: UBA5 were set to Hypomyelinating neuropathy Added comment: Note that UBA5 variants have been associated with a range of neurological phenotypes including epilepsy, ID and ataxia. PMID: 32179706 (2020) - Five affected individuals from a consanguineous family presenting with a severe congenital neuropathy causing early death in infancy. Some in vitro functional data included. Due to early mortality, unclear whether additional features previously associated with UBA5 variants would have developed. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.16 | SPTBN4 |
Arina Puzriakova gene: SPTBN4 was added gene: SPTBN4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature for-review tags were added to gene: SPTBN4. Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN4 were set to 28540413; 28940097; 29861105; 31230720; 31857255; 32672909 Phenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 Review for gene: SPTBN4 was set to AMBER Added comment: At least 11 individuals from 9 unrelated families with biallelic variants in SPTBN4 reported at present. Motor neuronopathy/axonopathy was reported in 5 unrelated families. A formal evaluation by EMG/NCS was not conducted in the rest but phenotypes did include hypotonia and hyporeflexia which could be suggestive of neuropathy. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.15 | ITPR3 |
Zornitza Stark gene: ITPR3 was added gene: ITPR3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: ITPR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ITPR3 were set to 32949214 Phenotypes for gene: ITPR3 were set to Charcot-Marie-Tooth disease Review for gene: ITPR3 was set to AMBER Added comment: Two unrelated families reported: variant segregated in four affected individuals in one family and was de novo in the second family where there was a single affected person. Some evidence for dominant-negative effect. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.13 | NUDT2 |
Arina Puzriakova gene: NUDT2 was added gene: NUDT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature watchlist, founder-effect tags were added to gene: NUDT2. Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDT2 were set to 27431290; 30059600; 33058507 Phenotypes for gene: NUDT2 were set to Sensorimotor polyneuropathy; Muscular hypotonia; Intellectual disability; no OMIM number Review for gene: NUDT2 was set to AMBER Added comment: - PMID: 33058507 (2020) - Three patients from two families harbouring the same homozygous variant (c.186del, p.Ala63GlnfsTer3). Affected individuals present distal upper and lower extremity weakness due to a sensorimotor polyneuropathy with demyelinating and/or axonal features. ---------- A further 4 Saudi families (7 affected individuals) with a different homozygous NUDT2 variant (c.34C> T, p.Arg12) have been published elsewhere (PMID: 27431290, 30059600), however neuropathy was not reported in these cases. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.10 | NEMF |
Arina Puzriakova gene: NEMF was added gene: NEMF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature watchlist, for-review tags were added to gene: NEMF. Mode of inheritance for gene: NEMF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEMF were set to 32934225; 33048237 Phenotypes for gene: NEMF were set to Hypotonia; Axonal neuropathy; Ataxia; Abnormal brain imaging; Global developmental delay; Intellectual disability; Kyphosis; Scoliosis; Tremor; Respiratory distress Review for gene: NEMF was set to GREEN Added comment: Currently not associated with any phenotype in OMIM (last edited on 04/01/2017) or Gene2Phenotype. Gene added and expert reviewed on Intellectual Disability panel: https://panelapp.genomicsengland.co.uk/panels/285/gene/NEMF/ - PMID: 32934225 (2020) - 8 individuals from 6 families with a juvenile neuromuscular disease due to biallelic NEMF variants. A ninth individual with similar presentation was found to harbor a single NEMF missense SNV as de novo event. Features incl. hypotonia (4/8 with biallelic variant (B) | 1/1 monoallelic (M)), DD/ID (7/8B | 0/1M) with speech delay as universal feature (8/8B | 1/1M), axonal neuropathy (3/3B | 1/1M), ataxia (3/8B | 0/1M). Other findings included tremor (1/7B | 1/1M), abnormal brain imaging (2/6B / ?/1M), kyphosis/scoliosis (4/8B | 0/1M), respiratory distress (1/8B | 0/1M). The authors provide evidence that mice homozygous for Nemf missense mutations display progressive motor phenotypes, exhibit neurogenic atrophy and progressive axonal degeneration. - PMID: 33048237 (2020) - 13 affected individuals from 5 unrelated families presenting with a spectrum of central and peripheral neurological involvement. Peripheral systemic neurological manifestations such as impaired eye movements, limb weakness, and axonal polyneuropathy were found in families 1, 2 and 5 - however, only 2 sibs from family 2 had a precise diagnosis for polyneuropathies. Knockdown studies in cultured mouse primary cortical neurons showed a significant decrease in axon length and impaired synapse development. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.8 | GBF1 |
Zornitza Stark gene: GBF1 was added gene: GBF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: GBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GBF1 were set to 32937143 Phenotypes for gene: GBF1 were set to Axonal Neuropathy Review for gene: GBF1 was set to GREEN gene: GBF1 was marked as current diagnostic Added comment: Four unrelated families with individuals affected by sporadic or dominant Distal hereditary motor neuropathies (HMNs) or axonal Charcot-Marie-Tooth neuropathy (CMT2). 3 missense variants (1 de novo) and 1 nonsense variant (de novo). Age of onset varied from childhood (nonsense variant) to 50s. Authors observed marked increase in Golgi fragmentation in primary fibroblasts derived from all affected individuals. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.6 | ACOX1 |
Zornitza Stark gene: ACOX1 was added gene: ACOX1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACOX1 were set to 32169171 Phenotypes for gene: ACOX1 were set to Mitchell syndrome, MIM# 618960 Review for gene: ACOX1 was set to GREEN gene: ACOX1 was marked as current diagnostic Added comment: Mono-allelic variants (recurrent de novo missense, N237S) associated with Mitchell syndrome (MITCH): a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. By contrast, bi-allelic variants cause a peroxisomal disorder characterised by neonatal hypotonia, seizures, apnoeic spells, delayed psychomotor development, and neurologic regression. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.5 | EMILIN1 |
Zornitza Stark gene: EMILIN1 was added gene: EMILIN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: EMILIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EMILIN1 were set to 31978608; 26462740 Phenotypes for gene: EMILIN1 were set to Peripheral neuropathy; aortic aneurysm Review for gene: EMILIN1 was set to AMBER Added comment: Missense mutations identified in two families. First family, proband presented with ascending and descending aortic aneurysms, bilateral lower leg and foot sensorimotor peripheral neuropathy, arthropathy, and increased skin elasticity. Variant segregated with disease in the affected proband, mother, and son. Second family, father and three affected children showed amyotrophy and weakness of the distal lower limbs, dating back to early childhood. Some functional studies performed in patient fibroblasts and zebrafish, however these were not conclusive as the two missense mutations are at different locations within the protein. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.4 | SORD |
Zornitza Stark gene: SORD was added gene: SORD was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SORD were set to 32367058 Phenotypes for gene: SORD were set to Neuropathy Review for gene: SORD was set to GREEN gene: SORD was marked as current diagnostic Added comment: 45 individuals from 38 families across multiple ancestries carrying the nonsense c.757delG (p.Ala253GlnfsTer27) variant in SORD, in either a homozygous or compound heterozygous state . Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.4 | C1orf194 |
Zornitza Stark gene: C1orf194 was added gene: C1orf194 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: C1orf194 were set to 31199454 Phenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth disease, intermediate or demyelinating Review for gene: C1orf194 was set to AMBER Added comment: Two unrelated families with missense variants, one with intermediate CMT, the other with demyelinating CMT. Different phenotypic manifestations may relate to different mechanism, but this remains to be fully elucidated. Supportive mouse model. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.4 | JAG1 |
Zornitza Stark gene: JAG1 was added gene: JAG1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JAG1 were set to 32065591; 25707699 Phenotypes for gene: JAG1 were set to Peripheral neuropathy Mode of pathogenicity for gene: JAG1 was set to Other Review for gene: JAG1 was set to GREEN Added comment: Two unrelated families reported with CMT type 2. Affected individuals in both families exhibited severe vocal fold paresis, a rare feature of peripheral nerve disease that can be life-threatening. Studies of mutant protein posttranslational modification and localization indicated that the mutations (p.Ser577Arg, p.Ser650Pro) impair protein glycosylation and reduce JAG1 cell surface expression. Mice harboring heterozygous CMT2-associated mutations exhibited mild peripheral neuropathy, and homozygous expression resulted in embryonic lethality by midgestation. Pre-existing rat model. Sources: Literature |
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| Hereditary neuropathy or pain disorder v1.4 | VAPB |
Zornitza Stark gene: VAPB was added gene: VAPB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VAPB were set to 15372378; 32162544; 28993872; 28173107; 26566915 Phenotypes for gene: VAPB were set to Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA; Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980 Review for gene: VAPB was set to GREEN Added comment: p.P56S variant found in multiple families from different ethnicities but additional variant also reported; functional data. Sources: Expert list |
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| Hereditary neuropathy or pain disorder v1.4 | UBA1 |
Zornitza Stark gene: UBA1 was added gene: UBA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: UBA1 were set to 18179898 Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile MIM#301830 Review for gene: UBA1 was set to GREEN gene: UBA1 was marked as current diagnostic Added comment: Five families reported, gene is Green on the Paediatric motor neuropathies panel. Sources: Expert list |
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| Hereditary neuropathy or pain disorder v1.4 | SCO2 |
Zornitza Stark gene: SCO2 was added gene: SCO2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 29351582 Phenotypes for gene: SCO2 were set to axonal Charcot-Marie-Tooth disease Review for gene: SCO2 was set to AMBER Added comment: Two unrelated cases with compound heterozygous variants and a CMT phenotype. Cardiomyopathy not present. Sources: Expert list |
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| Hereditary neuropathy or pain disorder v0.90 | AR_CAG |
Louise Daugherty STR: AR_CAG was added STR: AR_CAG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review STR tags were added to STR: AR_CAG. Mode of inheritance for STR: AR_CAG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for STR: AR_CAG were set to Spinal and bulbar muscular atrophy or Kennedy diseases 313200 Review for STR: AR_CAG was set to GREEN Added comment: New Green STR submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group. This STR has been rated Amber until further discussion with the Neurology Test Group on 21st June 2019- although appropriate to have on this panel, they can be more late-onset, this panel is used for children so needs further discussion with the GLHs and Genomics England Clinical team before upgrading to Green. Sources: Expert Review |
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| Hereditary neuropathy or pain disorder v0.1 | ZFYVE27 |
Ellen McDonagh gene: ZFYVE27 was added gene: ZFYVE27 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: ZFYVE27 was set to Phenotypes for gene: ZFYVE27 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | ZFYVE26 |
Ellen McDonagh gene: ZFYVE26 was added gene: ZFYVE26 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZFYVE26 were set to Hereditary Neuropathies; Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy; Spastic paraplegia 15, autosomal recessive, 270700 |
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| Hereditary neuropathy or pain disorder v0.1 | XRCC1 |
Ellen McDonagh gene: XRCC1 was added gene: XRCC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC1 were set to 29472272; 28002403 Phenotypes for gene: XRCC1 were set to Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy; Spinocerebellar ataxia, autosomal recessive 26, 617633 |
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| Hereditary neuropathy or pain disorder v0.1 | XPA |
Ellen McDonagh gene: XPA was added gene: XPA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPA were set to 2168777 Phenotypes for gene: XPA were set to Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy; Xeroderma pigmentosum, group A, 278700 |
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| Hereditary neuropathy or pain disorder v0.1 | XK |
Ellen McDonagh gene: XK was added gene: XK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: XK were set to Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy; McLeod syndrome with or without chronic granulomatous disease, 300842 |
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| Hereditary neuropathy or pain disorder v0.1 | WASHC5 |
Ellen McDonagh gene: WASHC5 was added gene: WASHC5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: WASHC5 was set to Publications for gene: WASHC5 were set to 27164712 Phenotypes for gene: WASHC5 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | VPS13A |
Ellen McDonagh gene: VPS13A was added gene: VPS13A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13A were set to Choreoacanthocytosis, 200150; Choreoacanthocytosis. Onset 3rd to 5th decade, red cell acanthocytosis and progressive neurodegeneration, seizures, dysarthria, chorea, orofacial dyskinesia, psychiatric disturbance, axonal sensory-motor neuropathy, raised CK |
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| Hereditary neuropathy or pain disorder v0.1 | VCL |
Ellen McDonagh gene: VCL was added gene: VCL was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: VCL was set to Phenotypes for gene: VCL were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | TWNK |
Ellen McDonagh gene: TWNK was added gene: TWNK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TWNK were set to Hereditary Neuropathies; Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy |
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| Hereditary neuropathy or pain disorder v0.1 | TTPA |
Ellen McDonagh gene: TTPA was added gene: TTPA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTPA were set to Hereditary Neuropathies; Early onset ataxia and sensory axonal neuropathy similar to Friedreich ataxia, head titubation, normal fat absorption unlike abetalipoproteinaemia, rarely retinitis pigmentosa |
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| Hereditary neuropathy or pain disorder v0.1 | TTN |
Ellen McDonagh gene: TTN was added gene: TTN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TTN was set to Phenotypes for gene: TTN were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | TTBK2 |
Ellen McDonagh gene: TTBK2 was added gene: TTBK2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TTBK2 was set to Phenotypes for gene: TTBK2 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | TRPA1 |
Ellen McDonagh gene: TRPA1 was added gene: TRPA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: TRPA1 was set to |
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| Hereditary neuropathy or pain disorder v0.1 | TRIM2 |
Ellen McDonagh gene: TRIM2 was added gene: TRIM2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: TRIM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM2 were set to 25893792; 18687884; 23562820 Phenotypes for gene: TRIM2 were set to Charcot-Marie-Tooth disease, type 2R, 615490 |
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| Hereditary neuropathy or pain disorder v0.1 | TPM1 |
Ellen McDonagh gene: TPM1 was added gene: TPM1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TPM1 was set to Phenotypes for gene: TPM1 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | TNNT2 |
Ellen McDonagh gene: TNNT2 was added gene: TNNT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TNNT2 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | TNNI3 |
Ellen McDonagh gene: TNNI3 was added gene: TNNI3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TNNI3 was set to Phenotypes for gene: TNNI3 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | TNNC1 |
Ellen McDonagh gene: TNNC1 was added gene: TNNC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TNNC1 was set to Phenotypes for gene: TNNC1 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | TMEM43 |
Ellen McDonagh gene: TMEM43 was added gene: TMEM43 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TMEM43 was set to Phenotypes for gene: TMEM43 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | TDP1 |
Ellen McDonagh gene: TDP1 was added gene: TDP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TDP1 were set to 12244316 Phenotypes for gene: TDP1 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | TCAP |
Ellen McDonagh gene: TCAP was added gene: TCAP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TCAP was set to Phenotypes for gene: TCAP were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | TAZ |
Ellen McDonagh gene: TAZ was added gene: TAZ was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TAZ was set to Phenotypes for gene: TAZ were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | SURF1 |
Ellen McDonagh gene: SURF1 was added gene: SURF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency, 256000; Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV |
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| Hereditary neuropathy or pain disorder v0.1 | SUCLA2 |
Ellen McDonagh gene: SUCLA2 was added gene: SUCLA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLA2 were set to 17287286 Phenotypes for gene: SUCLA2 were set to Leigh like syndrome, deafness, progressive dystonia, mild methylmaolic acidaemia; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 |
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| Hereditary neuropathy or pain disorder v0.1 | SPTBN2 |
Ellen McDonagh gene: SPTBN2 was added gene: SPTBN2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SPTBN2 was set to Publications for gene: SPTBN2 were set to 28333917 Phenotypes for gene: SPTBN2 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | SPG7 |
Ellen McDonagh gene: SPG7 was added gene: SPG7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPG7 were set to Hereditary Neuropathies; Spastic paraplegia, optic atrophy, ataxia and sensory-motor axonal neuropathy in some patients |
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| Hereditary neuropathy or pain disorder v0.1 | SPG21 |
Ellen McDonagh gene: SPG21 was added gene: SPG21 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SPG21 was set to Phenotypes for gene: SPG21 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | SPART |
Ellen McDonagh gene: SPART was added gene: SPART was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SPART was set to Phenotypes for gene: SPART were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | SOX10 |
Ellen McDonagh gene: SOX10 was added gene: SOX10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,South West GLH Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX10 were set to 21898658 Phenotypes for gene: SOX10 were set to Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease |
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| Hereditary neuropathy or pain disorder v0.1 | SOS1 |
Ellen McDonagh gene: SOS1 was added gene: SOS1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SOS1 was set to Phenotypes for gene: SOS1 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | SLC5A7 |
Ellen McDonagh gene: SLC5A7 was added gene: SLC5A7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC5A7 were set to 23141292; 29782645 Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA |
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| Hereditary neuropathy or pain disorder v0.1 | SLC52A1 |
Ellen McDonagh gene: SLC52A1 was added gene: SLC52A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Red,South West GLH Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC52A1 were set to Riboflavin deficiency; dHMN |
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| Hereditary neuropathy or pain disorder v0.1 | SLC25A46 |
Ellen McDonagh gene: SLC25A46 was added gene: SLC25A46 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A46 were set to 26168012 Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505; Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy |
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| Hereditary neuropathy or pain disorder v0.1 | SLC25A19 |
Ellen McDonagh gene: SLC25A19 was added gene: SLC25A19 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A19 were set to 19798730 Phenotypes for gene: SLC25A19 were set to Acute encephalopathic episodes and paralysis following febrile illness with almost complete recovery. Absent sensory-motor action potential during illness. Bilateral striatal necrosis on MRI. Additional chronic progressive axonal neuropathy; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 |
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| Hereditary neuropathy or pain disorder v0.1 | SLC1A3 |
Ellen McDonagh gene: SLC1A3 was added gene: SLC1A3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SLC1A3 was set to Phenotypes for gene: SLC1A3 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | SIL1 |
Ellen McDonagh gene: SIL1 was added gene: SIL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SIL1 was set to Phenotypes for gene: SIL1 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | SGCD |
Ellen McDonagh gene: SGCD was added gene: SGCD was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SGCD was set to Phenotypes for gene: SGCD were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | SELENOI |
Ellen McDonagh gene: SELENOI was added gene: SELENOI was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SELENOI were set to Infantile onset, global developmental delay, spasticity, periventricular white mater signal change on MRI, peripheral neuropathy with SNCV. Seizures and bifid uvula in some affected individuals |
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| Hereditary neuropathy or pain disorder v0.1 | SCYL1 |
Ellen McDonagh gene: SCYL1 was added gene: SCYL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCYL1 were set to 26581903 Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719; Early onset ataxia (<1 yr) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy |
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| Hereditary neuropathy or pain disorder v0.1 | SCP2 |
Ellen McDonagh gene: SCP2 was added gene: SCP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCP2 were set to 16685654 Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724; Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI |
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| Hereditary neuropathy or pain disorder v0.1 | SCN5A |
Ellen McDonagh gene: SCN5A was added gene: SCN5A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SCN5A was set to Phenotypes for gene: SCN5A were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | SCN10A |
Ellen McDonagh gene: SCN10A was added gene: SCN10A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SCN10A was set to |
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| Hereditary neuropathy or pain disorder v0.1 | SCARB2 |
Ellen McDonagh gene: SCARB2 was added gene: SCARB2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCARB2 were set to 19597094; 21670406 Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure, 254900; Progressive myoclonic epilepsy with preserved cognition, onset 2nd decade, renal impairment, rarely demyelinating sensory-motor neuropathy (without renal failure) |
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| Hereditary neuropathy or pain disorder v0.1 | SBF1 |
Ellen McDonagh gene: SBF1 was added gene: SBF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SBF1 were set to 23749797; 28005197; 21210780; 24799518 Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3, 615284 |
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| Hereditary neuropathy or pain disorder v0.1 | RYR2 |
Ellen McDonagh gene: RYR2 was added gene: RYR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: RYR2 was set to Phenotypes for gene: RYR2 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | RIT1 |
Ellen McDonagh gene: RIT1 was added gene: RIT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: RIT1 was set to Phenotypes for gene: RIT1 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | RBM20 |
Ellen McDonagh gene: RBM20 was added gene: RBM20 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: RBM20 was set to Phenotypes for gene: RBM20 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | RAF1 |
Ellen McDonagh gene: RAF1 was added gene: RAF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: RAF1 was set to Phenotypes for gene: RAF1 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | PTRH2 |
Ellen McDonagh gene: PTRH2 was added gene: PTRH2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRH2 were set to 25572476; 25558065 Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263; Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy |
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| Hereditary neuropathy or pain disorder v0.1 | PTPN11 |
Ellen McDonagh gene: PTPN11 was added gene: PTPN11 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN11 were set to 25884655; 26952712; 26337637 Phenotypes for gene: PTPN11 were set to Cardiomyopathy; Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus |
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| Hereditary neuropathy or pain disorder v0.1 | PTEN |
Ellen McDonagh gene: PTEN was added gene: PTEN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTEN were set to Cowden syndrome 1, 158350; multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas |
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| Hereditary neuropathy or pain disorder v0.1 | PRKCG |
Ellen McDonagh gene: PRKCG was added gene: PRKCG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKCG were set to 26633542; 29603387 Phenotypes for gene: PRKCG were set to Hereditary Neuropathies; Spinocerebellar ataxia 14, 605361; Usually adult onset isolated cerebellar ataxia. Missense mutation in catalytic domain of exon 11 associated with complex syndrome including cerebellar ataxia, sensory motor axonal neuropathy, parkinsonism, dystonia, myoclonus and pyramidal syndrome |
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| Hereditary neuropathy or pain disorder v0.1 | PRKAG2 |
Ellen McDonagh gene: PRKAG2 was added gene: PRKAG2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: PRKAG2 was set to Phenotypes for gene: PRKAG2 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | PPOX |
Ellen McDonagh gene: PPOX was added gene: PPOX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PPOX were set to Porphyria variegata, 176200; Skin photosensitivity. Acute episodes similar to AIP |
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| Hereditary neuropathy or pain disorder v0.1 | POLR3A |
Ellen McDonagh gene: POLR3A was added gene: POLR3A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 28459997 Phenotypes for gene: POLR3A were set to Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications |
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| Hereditary neuropathy or pain disorder v0.1 | PNPLA6 |
Ellen McDonagh gene: PNPLA6 was added gene: PNPLA6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to 24355708 Phenotypes for gene: PNPLA6 were set to Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia; progressive distal motor neuropathy beginning in early through late adolescence |
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| Hereditary neuropathy or pain disorder v0.1 | PNKP |
Ellen McDonagh gene: PNKP was added gene: PNKP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNKP were set to 30039206 Phenotypes for gene: PNKP were set to Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; Ataxia-oculomotor apraxia 4, 616267 |
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| Hereditary neuropathy or pain disorder v0.1 | PMP2 |
Ellen McDonagh gene: PMP2 was added gene: PMP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PMP2 were set to Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 |
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| Hereditary neuropathy or pain disorder v0.1 | PMM2 |
Ellen McDonagh gene: PMM2 was added gene: PMM2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to 9140401 Phenotypes for gene: PMM2 were set to Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy; Congenital disorder of glycosylation, type Ia, 212065 |
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| Hereditary neuropathy or pain disorder v0.1 | PLP1 |
Ellen McDonagh gene: PLP1 was added gene: PLP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | PLN |
Ellen McDonagh gene: PLN was added gene: PLN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: PLN was set to Phenotypes for gene: PLN were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | PKP2 |
Ellen McDonagh gene: PKP2 was added gene: PKP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: PKP2 was set to Phenotypes for gene: PKP2 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | PEX10 |
Ellen McDonagh gene: PEX10 was added gene: PEX10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PEX10 was set to Publications for gene: PEX10 were set to 27230853; 20695019 Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), 614870; Failure to thrive, facial dismorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described; Peroxisome biogenesis disorder 6B, 614871 |
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| Hereditary neuropathy or pain disorder v0.1 | PDYN |
Ellen McDonagh gene: PDYN was added gene: PDYN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDYN were set to 21035104 Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23, 610245; Cerebellar ataxia, sensory-motor axonal neuropathy |
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| Hereditary neuropathy or pain disorder v0.1 | PDLIM3 |
Ellen McDonagh gene: PDLIM3 was added gene: PDLIM3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: PDLIM3 was set to Phenotypes for gene: PDLIM3 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | PDK3 |
Ellen McDonagh gene: PDK3 was added gene: PDK3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PDK3 were set to 26801680; 23297365 Phenotypes for gene: PDK3 were set to ?Charcot Marie Tooth disease, X linked dominant, 6, 300905 |
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| Hereditary neuropathy or pain disorder v0.1 | OPA3 |
Ellen McDonagh gene: OPA3 was added gene: OPA3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: OPA3 were set to Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction; Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501 |
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| Hereditary neuropathy or pain disorder v0.1 | OPA1 |
Ellen McDonagh gene: OPA1 was added gene: OPA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OPA1 were set to Optic atrophy 1, 165500; Optic neuropathy, PEO, deafness, myelopathy, sensory-motor axonal neuropathy; Optic atrophy plus syndrome, 125250 |
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| Hereditary neuropathy or pain disorder v0.1 | NRAS |
Ellen McDonagh gene: NRAS was added gene: NRAS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: NRAS was set to Phenotypes for gene: NRAS were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | NIPA1 |
Ellen McDonagh gene: NIPA1 was added gene: NIPA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NIPA1 were set to 14508710; 15711826; 21419568; 22302102; 15643603 Phenotypes for gene: NIPA1 were set to Hereditary Neuropathies; Spastic paraplegia 6, autosomal dominant |
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| Hereditary neuropathy or pain disorder v0.1 | NEXN |
Ellen McDonagh gene: NEXN was added gene: NEXN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: NEXN was set to Phenotypes for gene: NEXN were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | NEFH |
Ellen McDonagh gene: NEFH was added gene: NEFH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NEFH were set to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 |
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| Hereditary neuropathy or pain disorder v0.1 | NEBL |
Ellen McDonagh gene: NEBL was added gene: NEBL was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: NEBL was set to Phenotypes for gene: NEBL were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | NAGLU |
Ellen McDonagh gene: NAGLU was added gene: NAGLU was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH Mode of inheritance for gene: NAGLU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NAGLU were set to 25818867 Phenotypes for gene: NAGLU were set to ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 |
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| Hereditary neuropathy or pain disorder v0.1 | NAGA |
Ellen McDonagh gene: NAGA was added gene: NAGA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGA were set to 15136691 Phenotypes for gene: NAGA were set to Kanzaki disease, 609242; Kanzaki disease. Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI |
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| Hereditary neuropathy or pain disorder v0.1 | MYPN |
Ellen McDonagh gene: MYPN was added gene: MYPN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MYPN was set to Phenotypes for gene: MYPN were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | MYOZ2 |
Ellen McDonagh gene: MYOZ2 was added gene: MYOZ2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MYOZ2 was set to Phenotypes for gene: MYOZ2 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | MYL3 |
Ellen McDonagh gene: MYL3 was added gene: MYL3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MYL3 was set to Phenotypes for gene: MYL3 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | MYL2 |
Ellen McDonagh gene: MYL2 was added gene: MYL2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MYL2 was set to Phenotypes for gene: MYL2 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | MYH7 |
Ellen McDonagh gene: MYH7 was added gene: MYH7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MYH7 was set to Phenotypes for gene: MYH7 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | MYH6 |
Ellen McDonagh gene: MYH6 was added gene: MYH6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MYH6 was set to Phenotypes for gene: MYH6 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | MYH14 |
Ellen McDonagh gene: MYH14 was added gene: MYH14 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYH14 were set to 30373780; 21480433; 27875632 Phenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 |
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| Hereditary neuropathy or pain disorder v0.1 | MYBPC3 |
Ellen McDonagh gene: MYBPC3 was added gene: MYBPC3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MYBPC3 was set to Phenotypes for gene: MYBPC3 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | MTTP |
Ellen McDonagh gene: MTTP was added gene: MTTP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: MTTP was set to Publications for gene: MTTP were set to 2991816 Phenotypes for gene: MTTP were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | MT-TL1 |
Ellen McDonagh gene: MT-TL1 was added gene: MT-TL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Phenotypes for gene: MT-TL1 were set to Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy |
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| Hereditary neuropathy or pain disorder v0.1 | MT-RNR1 |
Ellen McDonagh gene: MT-RNR1 was added gene: MT-RNR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL Phenotypes for gene: MT-RNR1 were set to Parkinsonism, deafness, and sensory-motor axonal neuropathy |
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| Hereditary neuropathy or pain disorder v0.1 | MRE11 |
Ellen McDonagh gene: MRE11 was added gene: MRE11 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MRE11 was set to Phenotypes for gene: MRE11 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | MMACHC |
Ellen McDonagh gene: MMACHC was added gene: MMACHC was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 20610126 Phenotypes for gene: MMACHC were set to Onset infancy to adulthood; Methylmalonic aciduria and homocystinuria, cblC type, 277400; thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12 |
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| Hereditary neuropathy or pain disorder v0.1 | MED25 |
Ellen McDonagh gene: MED25 was added gene: MED25 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 19290556 Phenotypes for gene: MED25 were set to Charcot Marie Tooth disease, type 2B2, 605589 |
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| Hereditary neuropathy or pain disorder v0.1 | MCM3AP |
Ellen McDonagh gene: MCM3AP was added gene: MCM3AP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 |
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| Hereditary neuropathy or pain disorder v0.1 | MARS |
Ellen McDonagh gene: MARS was added gene: MARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MARS were set to 23729695; 29655802 Phenotypes for gene: MARS were set to Charcot-Marie-Tooth disease, axonal, type 2U, 616280 |
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| Hereditary neuropathy or pain disorder v0.1 | MAP2K2 |
Ellen McDonagh gene: MAP2K2 was added gene: MAP2K2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MAP2K2 was set to Phenotypes for gene: MAP2K2 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | MAP2K1 |
Ellen McDonagh gene: MAP2K1 was added gene: MAP2K1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MAP2K1 was set to Phenotypes for gene: MAP2K1 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | LYST |
Ellen McDonagh gene: LYST was added gene: LYST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYST were set to 27669550 Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500; Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy |
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| Hereditary neuropathy or pain disorder v0.1 | LDB3 |
Ellen McDonagh gene: LDB3 was added gene: LDB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: LDB3 was set to Phenotypes for gene: LDB3 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | LAS1L |
Ellen McDonagh gene: LAS1L was added gene: LAS1L was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH Mode of inheritance for gene: LAS1L was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: LAS1L were set to 24647030 |
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| Hereditary neuropathy or pain disorder v0.1 | LAMP2 |
Ellen McDonagh gene: LAMP2 was added gene: LAMP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: LAMP2 was set to Phenotypes for gene: LAMP2 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | LAMA4 |
Ellen McDonagh gene: LAMA4 was added gene: LAMA4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: LAMA4 was set to Phenotypes for gene: LAMA4 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | L1CAM |
Ellen McDonagh gene: L1CAM was added gene: L1CAM was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: L1CAM was set to Phenotypes for gene: L1CAM were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | KRAS |
Ellen McDonagh gene: KRAS was added gene: KRAS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: KRAS was set to Phenotypes for gene: KRAS were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | KLC2 |
Ellen McDonagh gene: KLC2 was added gene: KLC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLC2 were set to 26385635 Phenotypes for gene: KLC2 were set to SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy; Spastic paraplegia, optic atrophy, and neuropathy, 609541 |
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| Hereditary neuropathy or pain disorder v0.1 | KIF1B |
Ellen McDonagh gene: KIF1B was added gene: KIF1B was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF1B were set to 11389829; 25802885 Phenotypes for gene: KIF1B were set to Charcot Marie Tooth disease, type 2A1, 118210 |
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| Hereditary neuropathy or pain disorder v0.1 | KCNC3 |
Ellen McDonagh gene: KCNC3 was added gene: KCNC3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: KCNC3 was set to Phenotypes for gene: KCNC3 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | KCNA2 |
Ellen McDonagh gene: KCNA2 was added gene: KCNA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNA2 were set to 27543892 Phenotypes for gene: KCNA2 were set to Epileptic encephalopathy, early infantile, 32, 616366; Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family |
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| Hereditary neuropathy or pain disorder v0.1 | KCNA1 |
Ellen McDonagh gene: KCNA1 was added gene: KCNA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: KCNA1 was set to Phenotypes for gene: KCNA1 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | KARS |
Ellen McDonagh gene: KARS was added gene: KARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: KARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KARS were set to 25476837; 23768514; 20920668 Phenotypes for gene: KARS were set to Deafness, autosomal recessive 89, 613916; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot-Marie-Tooth, Intermediate (Dominant).; Charcot Marie Tooth disease, recessive intermediate, B, 613641 |
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| Hereditary neuropathy or pain disorder v0.1 | JUP |
Ellen McDonagh gene: JUP was added gene: JUP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: JUP was set to Phenotypes for gene: JUP were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | JPH2 |
Ellen McDonagh gene: JPH2 was added gene: JPH2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: JPH2 was set to Phenotypes for gene: JPH2 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | ITPR1 |
Ellen McDonagh gene: ITPR1 was added gene: ITPR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: ITPR1 was set to Phenotypes for gene: ITPR1 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | IARS2 |
Ellen McDonagh gene: IARS2 was added gene: IARS2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS2 were set to 28328135; 30419932; 25130867; 30041933 Phenotypes for gene: IARS2 were set to Spondyloepiphyseal dysplasia, congenital cataracts, nystagmus, dysmorphic facies, sensory neuronal hearing loss, growth hormone deficiency, sensory axonal peripheral neuropathy; Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 |
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| Hereditary neuropathy or pain disorder v0.1 | HSPB3 |
Ellen McDonagh gene: HSPB3 was added gene: HSPB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HSPB3 were set to 27549087; 20142617 Phenotypes for gene: HSPB3 were set to ?Neuronopathy, distal hereditary motor, type IIC, 613376 |
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| Hereditary neuropathy or pain disorder v0.1 | HRAS |
Ellen McDonagh gene: HRAS was added gene: HRAS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: HRAS was set to Phenotypes for gene: HRAS were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | HOXD10 |
Ellen McDonagh gene: HOXD10 was added gene: HOXD10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: HOXD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HOXD10 were set to 15146389 Phenotypes for gene: HOXD10 were set to Charcot Marie Tooth disease, foot deformity of, 192950 |
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| Hereditary neuropathy or pain disorder v0.1 | HMBS |
Ellen McDonagh gene: HMBS was added gene: HMBS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HMBS were set to AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy; Porphyria, acute intermittent, 176000 |
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| Hereditary neuropathy or pain disorder v0.1 | HADHB |
Ellen McDonagh gene: HADHB was added gene: HADHB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,South West GLH,London North GLH,Expert list Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015 |
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| Hereditary neuropathy or pain disorder v0.1 | HADHA |
Ellen McDonagh gene: HADHA was added gene: HADHA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Red,South West GLH Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHA were set to Trifunctional protein deficiency, 609015 |
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| Hereditary neuropathy or pain disorder v0.1 | GNB4 |
Ellen McDonagh gene: GNB4 was added gene: GNB4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: GNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNB4 were set to 27908631; 23434117; 28642160 Phenotypes for gene: GNB4 were set to Charcot Marie Tooth disease, dominant intermediate F, 615185 |
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| Hereditary neuropathy or pain disorder v0.1 | GLE1 |
Ellen McDonagh gene: GLE1 was added gene: GLE1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLE1 were set to 18204449 Phenotypes for gene: GLE1 were set to Lethal congenital contracture syndrome 1, 253310; Congenital arthrogryposis with anterior horn cell disease, 611890; Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death |
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| Hereditary neuropathy or pain disorder v0.1 | GJC2 |
Ellen McDonagh gene: GJC2 was added gene: GJC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804; Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy; Spastic paraplegia 44, autosomal recessive, 613206 |
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| Hereditary neuropathy or pain disorder v0.1 | GBA2 |
Ellen McDonagh gene: GBA2 was added gene: GBA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA2 were set to 23332916 Phenotypes for gene: GBA2 were set to SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy; Spastic paraplegia 46, autosomal recessive, 614409 |
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| Hereditary neuropathy or pain disorder v0.1 | GATAD1 |
Ellen McDonagh gene: GATAD1 was added gene: GATAD1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: GATAD1 was set to Phenotypes for gene: GATAD1 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | GALC |
Ellen McDonagh gene: GALC was added gene: GALC was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALC were set to Krabbe. Spastic paraplegia, developmental delay, optic atrophy; Krabbe disease, 245200; adult onset has spastic paraplegia and sensory-motor axonal neuropathy with slow or normal conduction velocities, MRI shows leukodystrophy |
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| Hereditary neuropathy or pain disorder v0.1 | GAA |
Ellen McDonagh gene: GAA was added gene: GAA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,Expert Review Red,NHS GMS Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAA were set to 24627108 Phenotypes for gene: GAA were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | FXN |
Ellen McDonagh gene: FXN was added gene: FXN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH Mode of inheritance for gene: FXN was set to Phenotypes for gene: FXN were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | FLVCR1 |
Ellen McDonagh gene: FLVCR1 was added gene: FLVCR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR1 were set to 21070897 Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033; Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI |
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| Hereditary neuropathy or pain disorder v0.1 | FKTN |
Ellen McDonagh gene: FKTN was added gene: FKTN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: FKTN was set to Phenotypes for gene: FKTN were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | FGF14 |
Ellen McDonagh gene: FGF14 was added gene: FGF14 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: FGF14 was set to Phenotypes for gene: FGF14 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | FBXO38 |
Ellen McDonagh gene: FBXO38 was added gene: FBXO38 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: FBXO38 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXO38 were set to 24207122 Phenotypes for gene: FBXO38 were set to Neuronopathy, distal hereditary motor, type IID, 615575 |
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| Hereditary neuropathy or pain disorder v0.1 | FAM126A |
Ellen McDonagh gene: FAM126A was added gene: FAM126A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM126A were set to 16951682 Phenotypes for gene: FAM126A were set to Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532 |
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| Hereditary neuropathy or pain disorder v0.1 | FAH |
Ellen McDonagh gene: FAH was added gene: FAH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP; Tyrosinemia, type I, 276700 |
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| Hereditary neuropathy or pain disorder v0.1 | FA2H |
Ellen McDonagh gene: FA2H was added gene: FA2H was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to 22146942 Phenotypes for gene: FA2H were set to SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed; Spastic paraplegia 35, autosomal recessive, 612319 |
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| Hereditary neuropathy or pain disorder v0.1 | ETFDH |
Ellen McDonagh gene: ETFDH was added gene: ETFDH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680; Neonatal and late onset forms. hypoglycaemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occur. Riboflavin responsive |
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| Hereditary neuropathy or pain disorder v0.1 | ERCC8 |
Ellen McDonagh gene: ERCC8 was added gene: ERCC8 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC8 were set to Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type A, 216400 |
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| Hereditary neuropathy or pain disorder v0.1 | ERCC6 |
Ellen McDonagh gene: ERCC6 was added gene: ERCC6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type B, 133540 |
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| Hereditary neuropathy or pain disorder v0.1 | ERBB3 |
Ellen McDonagh gene: ERBB3 was added gene: ERBB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERBB3 were set to 17709104 Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, 607598; Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder |
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| Hereditary neuropathy or pain disorder v0.1 | EMD |
Ellen McDonagh gene: EMD was added gene: EMD was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: EMD was set to Phenotypes for gene: EMD were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | DTNA |
Ellen McDonagh gene: DTNA was added gene: DTNA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: DTNA was set to Phenotypes for gene: DTNA were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | DSTYK |
Ellen McDonagh gene: DSTYK was added gene: DSTYK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DSTYK were set to Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).; Spastic paraplegia 23, 270750 |
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| Hereditary neuropathy or pain disorder v0.1 | DST |
Ellen McDonagh gene: DST was added gene: DST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DST were set to 30371979; 28468842 Phenotypes for gene: DST were set to Hereditary Sensory and Autonomic Neuropathy, Type VI; ?Neuropathy, hereditary sensory and autonomic, type VI |
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| Hereditary neuropathy or pain disorder v0.1 | DSP |
Ellen McDonagh gene: DSP was added gene: DSP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: DSP was set to Phenotypes for gene: DSP were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | DSG2 |
Ellen McDonagh gene: DSG2 was added gene: DSG2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: DSG2 was set to Phenotypes for gene: DSG2 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | DSC2 |
Ellen McDonagh gene: DSC2 was added gene: DSC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: DSC2 was set to Phenotypes for gene: DSC2 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | DRP2 |
Ellen McDonagh gene: DRP2 was added gene: DRP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: DRP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DRP2 were set to 26227883; 29473052 |
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| Hereditary neuropathy or pain disorder v0.1 | DNAJC3 |
Ellen McDonagh gene: DNAJC3 was added gene: DNAJC3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC3 were set to 25466870 Phenotypes for gene: DNAJC3 were set to Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus; Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 |
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| Hereditary neuropathy or pain disorder v0.1 | DNAJB2 |
Ellen McDonagh gene: DNAJB2 was added gene: DNAJB2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Red,South West GLH Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB2 were set to 26752306; 25274842 Phenotypes for gene: DNAJB2 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | DMD |
Ellen McDonagh gene: DMD was added gene: DMD was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: DMD was set to Phenotypes for gene: DMD were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | DHTKD1 |
Ellen McDonagh gene: DHTKD1 was added gene: DHTKD1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DHTKD1 was set to Phenotypes for gene: DHTKD1 were set to Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750 |
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| Hereditary neuropathy or pain disorder v0.1 | DHH |
Ellen McDonagh gene: DHH was added gene: DHH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,UKGTN,South West GLH Mode of inheritance for gene: DHH was set to |
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| Hereditary neuropathy or pain disorder v0.1 | DGUOK |
Ellen McDonagh gene: DGUOK was added gene: DGUOK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 15883261 Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Portal hypertension, noncirrhotic, 617068; Neonatal liver failure, myopathy, sensory-motor axonal neuropathy |
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| Hereditary neuropathy or pain disorder v0.1 | DES |
Ellen McDonagh gene: DES was added gene: DES was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: DES was set to Phenotypes for gene: DES were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | DEGS1 |
Ellen McDonagh gene: DEGS1 was added gene: DEGS1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DEGS1 were set to 30620337; 30620338 Phenotypes for gene: DEGS1 were set to Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition; Leukodystrophy, hypomyelinating, 18, 618404 |
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| Hereditary neuropathy or pain disorder v0.1 | DCTN1 |
Ellen McDonagh gene: DCTN1 was added gene: DCTN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DCTN1 were set to 24627108; 27025386; 28251916 Phenotypes for gene: DCTN1 were set to Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641 |
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| Hereditary neuropathy or pain disorder v0.1 | DCAF8 |
Ellen McDonagh gene: DCAF8 was added gene: DCAF8 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH Mode of inheritance for gene: DCAF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DCAF8 were set to 24500646 Phenotypes for gene: DCAF8 were set to ?Giant axonal neuropathy 2, autosomal dominant, 610100 |
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| Hereditary neuropathy or pain disorder v0.1 | DARS2 |
Ellen McDonagh gene: DARS2 was added gene: DARS2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS2 were set to 28334938 Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings |
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| Hereditary neuropathy or pain disorder v0.1 | CYP27A1 |
Ellen McDonagh gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 22878431 Phenotypes for gene: CYP27A1 were set to SNCV described in a minority of patients; Adolescent-onset progressive ataxia, myelopathy and dementia, cataracts, low cholesterol, atherosclerosis, xanthomas, soft palate myoclonus, intractable infantile-onset diarrhoea, cerebral white matter lesions on MRI, sensory to motor axonal neuropathy; Cerebrotendinous xanthomatosis, 213700 |
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| Hereditary neuropathy or pain disorder v0.1 | CTDP1 |
Ellen McDonagh gene: CTDP1 was added gene: CTDP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTDP1 were set to 16194727; 24690360; 14517542 Phenotypes for gene: CTDP1 were set to Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) |
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| Hereditary neuropathy or pain disorder v0.1 | CSRP3 |
Ellen McDonagh gene: CSRP3 was added gene: CSRP3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: CSRP3 was set to Phenotypes for gene: CSRP3 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | CRYAB |
Ellen McDonagh gene: CRYAB was added gene: CRYAB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: CRYAB was set to Phenotypes for gene: CRYAB were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | CPOX |
Ellen McDonagh gene: CPOX was added gene: CPOX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CPOX were set to Coproporphyria, 121300; Harderoporphyria, 121300; Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP |
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| Hereditary neuropathy or pain disorder v0.1 | COQ8A |
Ellen McDonagh gene: COQ8A was added gene: COQ8A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: COQ8A was set to Phenotypes for gene: COQ8A were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | COA7 |
Ellen McDonagh gene: COA7 was added gene: COA7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 2971817 Phenotypes for gene: COA7 were set to Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 |
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| Hereditary neuropathy or pain disorder v0.1 | CNTNAP1 |
Ellen McDonagh gene: CNTNAP1 was added gene: CNTNAP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, 618186 |
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| Hereditary neuropathy or pain disorder v0.1 | CLTCL1 |
Ellen McDonagh gene: CLTCL1 was added gene: CLTCL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH Mode of inheritance for gene: CLTCL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLTCL1 were set to 26068709 |
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| Hereditary neuropathy or pain disorder v0.1 | CD59 |
Ellen McDonagh gene: CD59 was added gene: CD59 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD59 were set to 24382084; 23149847 Phenotypes for gene: CD59 were set to Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy; Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 |
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| Hereditary neuropathy or pain disorder v0.1 | CCT5 |
Ellen McDonagh gene: CCT5 was added gene: CCT5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCT5 were set to 16399879 Phenotypes for gene: CCT5 were set to Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia, 256840 |
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| Hereditary neuropathy or pain disorder v0.1 | CAV3 |
Ellen McDonagh gene: CAV3 was added gene: CAV3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: CAV3 was set to Phenotypes for gene: CAV3 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | CASQ2 |
Ellen McDonagh gene: CASQ2 was added gene: CASQ2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: CASQ2 was set to Phenotypes for gene: CASQ2 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | CACNB4 |
Ellen McDonagh gene: CACNB4 was added gene: CACNB4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: CACNB4 was set to Phenotypes for gene: CACNB4 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | C19orf12 |
Ellen McDonagh gene: C19orf12 was added gene: C19orf12 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C19orf12 were set to 23857908; 20039086 Phenotypes for gene: C19orf12 were set to SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs; Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 |
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| Hereditary neuropathy or pain disorder v0.1 | BRAF |
Ellen McDonagh gene: BRAF was added gene: BRAF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: BRAF was set to Phenotypes for gene: BRAF were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | BCKDHB |
Ellen McDonagh gene: BCKDHB was added gene: BCKDHB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDHB were set to 18855118; 11180212 Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib, 248600; Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath; Maple Syrup Urine Disease |
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| Hereditary neuropathy or pain disorder v0.1 | BAG3 |
Ellen McDonagh gene: BAG3 was added gene: BAG3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BAG3 were set to 22734908; 28754666 Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881 |
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| Hereditary neuropathy or pain disorder v0.1 | B4GALNT1 |
Ellen McDonagh gene: B4GALNT1 was added gene: B4GALNT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALNT1 were set to 23746551 Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy; Spastic paraplegia 26, autosomal recessive, 609195; SPG26 |
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| Hereditary neuropathy or pain disorder v0.1 | ATP1A1 |
Ellen McDonagh gene: ATP1A1 was added gene: ATP1A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ATP1A1 was set to Publications for gene: ATP1A1 were set to 29499166 Phenotypes for gene: ATP1A1 were set to Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 |
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| Hereditary neuropathy or pain disorder v0.1 | ARSA |
Ellen McDonagh gene: ARSA was added gene: ARSA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy; Metachromatic leukodystrophy, 250100 |
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| Hereditary neuropathy or pain disorder v0.1 | ARL6IP1 |
Ellen McDonagh gene: ARL6IP1 was added gene: ARL6IP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6IP1 were set to 24482476 Phenotypes for gene: ARL6IP1 were set to Spastic paraplegia 61, autosomal recessive, 615685; Childhood onset spastic paraplegia with mutilating, sensory to motor axonal neuropathy |
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| Hereditary neuropathy or pain disorder v0.1 | APTX |
Ellen McDonagh gene: APTX was added gene: APTX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APTX were set to 11176957 Phenotypes for gene: APTX were set to Hereditary Neuropathies; ATAXIA WITH OCULOMOTOR APRAXIA 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
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| Hereditary neuropathy or pain disorder v0.1 | APOA1 |
Ellen McDonagh gene: APOA1 was added gene: APOA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOA1 were set to 23730806 Phenotypes for gene: APOA1 were set to Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy |
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| Hereditary neuropathy or pain disorder v0.1 | AP1S1 |
Ellen McDonagh gene: AP1S1 was added gene: AP1S1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1S1 were set to 19057675 Phenotypes for gene: AP1S1 were set to MEDNIK syndrome, 609313; Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma |
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| Hereditary neuropathy or pain disorder v0.1 | ANKRD1 |
Ellen McDonagh gene: ANKRD1 was added gene: ANKRD1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: ANKRD1 was set to Phenotypes for gene: ANKRD1 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | ALDH3A2 |
Ellen McDonagh gene: ALDH3A2 was added gene: ALDH3A2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: ALDH3A2 was set to Phenotypes for gene: ALDH3A2 were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | AGXT |
Ellen McDonagh gene: AGXT was added gene: AGXT was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGXT were set to 25363903; 4701948 Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900; Renal failure and deposition of calcium oxalate crystals in tissues including nerve and muscle. Sensory and motor axonal neuropathy (some slowing) |
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| Hereditary neuropathy or pain disorder v0.1 | AGTPBP1 |
Ellen McDonagh gene: AGTPBP1 was added gene: AGTPBP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGTPBP1 were set to 30420557 Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 |
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| Hereditary neuropathy or pain disorder v0.1 | ACTN2 |
Ellen McDonagh gene: ACTN2 was added gene: ACTN2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: ACTN2 was set to Phenotypes for gene: ACTN2 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | ACTC1 |
Ellen McDonagh gene: ACTC1 was added gene: ACTC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: ACTC1 was set to Phenotypes for gene: ACTC1 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | ABHD12 |
Ellen McDonagh gene: ABHD12 was added gene: ABHD12 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD12 were set to 20797687; 29571850 Phenotypes for gene: ABHD12 were set to Neurodegeneration, childhood-onset, with cerebellar atrophy,612674; Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia |
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| Hereditary neuropathy or pain disorder v0.1 | ABCC9 |
Ellen McDonagh gene: ABCC9 was added gene: ABCC9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: ABCC9 was set to Phenotypes for gene: ABCC9 were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | VRK1 |
Ellen McDonagh gene: VRK1 was added gene: VRK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Amber,London North GLH,Expert list Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VRK1 were set to 30847374 Phenotypes for gene: VRK1 were set to Distal hereditary motor neuropathy |
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| Hereditary neuropathy or pain disorder v0.1 | SYT2 |
Ellen McDonagh gene: SYT2 was added gene: SYT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Amber,South West GLH Mode of inheritance for gene: SYT2 was set to Publications for gene: SYT2 were set to 26519543; 30533528 Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic |
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| Hereditary neuropathy or pain disorder v0.1 | YARS |
Ellen McDonagh gene: YARS was added gene: YARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: YARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: YARS were set to 19561293; 16429158 Phenotypes for gene: YARS were set to Charcot Marie Tooth disease, dominant intermediate C, 608323 |
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| Hereditary neuropathy or pain disorder v0.1 | WNK1 |
Ellen McDonagh gene: WNK1 was added gene: WNK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNK1 were set to 15060842 Phenotypes for gene: WNK1 were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492 |
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| Hereditary neuropathy or pain disorder v0.1 | WARS |
Ellen McDonagh gene: WARS was added gene: WARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WARS were set to 28369220 Phenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX, 617721 |
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| Hereditary neuropathy or pain disorder v0.1 | VCP |
Ellen McDonagh gene: VCP was added gene: VCP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VCP were set to 26574898; 25878907; 25125609 Phenotypes for gene: VCP were set to Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1; Charcot-Marie-Tooth disease, type 2Y |
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| Hereditary neuropathy or pain disorder v0.1 | TYMP |
Ellen McDonagh gene: TYMP was added gene: TYMP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
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| Hereditary neuropathy or pain disorder v0.1 | TUBB3 |
Ellen McDonagh gene: TUBB3 was added gene: TUBB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES; CFEOM3A; Fibrosis of extraocular muscles, congenital, 3A |
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| Hereditary neuropathy or pain disorder v0.1 | TTR |
Ellen McDonagh gene: TTR was added gene: TTR was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTR were set to 31111153; 31131842; 30878017; 30120737; 31118583 Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related, 105210; FAP; Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | TRPV4 |
Ellen McDonagh gene: TRPV4 was added gene: TRPV4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPV4 were set to 20037586 Phenotypes for gene: TRPV4 were set to Hereditary motor and sensory neuropathy, type IIc, 606071 Mode of pathogenicity for gene: TRPV4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Hereditary neuropathy or pain disorder v0.1 | TFG |
Ellen McDonagh gene: TFG was added gene: TFG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TFG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy, Okinawa type; Chondrosarcoma, extraskeletal myxoid, 612237; Hereditary motor and sensory neuropathy, proximal type, 604484 |
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| Hereditary neuropathy or pain disorder v0.1 | SPTLC2 |
Ellen McDonagh gene: SPTLC2 was added gene: SPTLC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTLC2 were set to 20920666 Phenotypes for gene: SPTLC2 were set to Hereditary Sensory and Autonomic Neuropathy, Type IC; Neuropathy, hereditary sensory and autonomic, type IC, 613640 Mode of pathogenicity for gene: SPTLC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Hereditary neuropathy or pain disorder v0.1 | SPTLC1 |
Ellen McDonagh gene: SPTLC1 was added gene: SPTLC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTLC1 were set to 20097765; 16216550 Phenotypes for gene: SPTLC1 were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IA, 162400 |
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| Hereditary neuropathy or pain disorder v0.1 | SPG11 |
Ellen McDonagh gene: SPG11 was added gene: SPG11 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,London North GLH,Expert Review Green,NHS GMS Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 26556829 Phenotypes for gene: SPG11 were set to Hereditary Neuropathies; axonal Charcot-Marie-Tooth disease type 2X |
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| Hereditary neuropathy or pain disorder v0.1 | SPAST |
Ellen McDonagh gene: SPAST was added gene: SPAST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPAST were set to 28572275 Phenotypes for gene: SPAST were set to Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant; Spasticity |
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| Hereditary neuropathy or pain disorder v0.1 | SMN1 |
Ellen McDonagh gene: SMN1 was added gene: SMN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMN1 were set to Spinal muscular atrophy |
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| Hereditary neuropathy or pain disorder v0.1 | SLC52A3 |
Ellen McDonagh gene: SLC52A3 was added gene: SLC52A3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A3 were set to 20206331 Phenotypes for gene: SLC52A3 were set to Fazio-Londe disease; dHMN; Brown-Vialetto-Van Laere syndrome 1 |
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| Hereditary neuropathy or pain disorder v0.1 | SLC52A2 |
Ellen McDonagh gene: SLC52A2 was added gene: SLC52A2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to BVVL; Brown-Vialetto-Van Laere syndrome 2 |
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| Hereditary neuropathy or pain disorder v0.1 | SLC12A6 |
Ellen McDonagh gene: SLC12A6 was added gene: SLC12A6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC12A6 were set to 12368912 Phenotypes for gene: SLC12A6 were set to Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum |
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| Hereditary neuropathy or pain disorder v0.1 | SIGMAR1 |
Ellen McDonagh gene: SIGMAR1 was added gene: SIGMAR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIGMAR1 were set to PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions. PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion; PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile; PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.; PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls |
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| Hereditary neuropathy or pain disorder v0.1 | SH3TC2 |
Ellen McDonagh gene: SH3TC2 was added gene: SH3TC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SH3TC2 were set to 19805030 Phenotypes for gene: SH3TC2 were set to Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353 |
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| Hereditary neuropathy or pain disorder v0.1 | SETX |
Ellen McDonagh gene: SETX was added gene: SETX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SETX were set to PMID: 25025039 - a likely pathogenic variant in SETX reported in a sporadic case with CMT2 and spasticity. Found with a REEP1 variant, and the authors assume digenic pathogenicity.; PMID:25802885 - Identifiy one previously reported variant and three novel variants in 4 families. Report the variants found in CMT patients are likely nonpathogenic due to bioinformatics analysis. Report SETX c.7640T>C is a nonpathogenic rare variant |
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| Hereditary neuropathy or pain disorder v0.1 | SEPT9 |
Ellen McDonagh gene: SEPT9 was added gene: SEPT9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEPT9 were set to 16186812; 19451530 Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic; Neuralgic amyotrophy |
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| Hereditary neuropathy or pain disorder v0.1 | SCN9A |
Ellen McDonagh gene: SCN9A was added gene: SCN9A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCN9A were set to 26392352 Phenotypes for gene: SCN9A were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | SCN11A |
Ellen McDonagh gene: SCN11A was added gene: SCN11A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN11A were set to CONGENITAL INABILITY TO EXPERIENCE PAIN; Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552 |
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| Hereditary neuropathy or pain disorder v0.1 | SBF2 |
Ellen McDonagh gene: SBF2 was added gene: SBF2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SBF2 were set to 17855448; 12554688 Phenotypes for gene: SBF2 were set to Charcot Marie Tooth disease, type 4B2, 604563 |
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| Hereditary neuropathy or pain disorder v0.1 | SACS |
Ellen McDonagh gene: SACS was added gene: SACS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | RETREG1 |
Ellen McDonagh gene: RETREG1 was added gene: RETREG1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RETREG1 were set to 30373780; 19838196 Phenotypes for gene: RETREG1 were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IIB, 613115 |
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| Hereditary neuropathy or pain disorder v0.1 | REEP1 |
Ellen McDonagh gene: REEP1 was added gene: REEP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,South West GLH Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: REEP1 were set to 19034539; 22703882 Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant 610250; ?Neuronopathy, distal hereditary motor, type VB, 614751; Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | RAB7A |
Ellen McDonagh gene: RAB7A was added gene: RAB7A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB7A were set to 26791407 Phenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease, type 2B, 600882 |
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| Hereditary neuropathy or pain disorder v0.1 | PRX |
Ellen McDonagh gene: PRX was added gene: PRX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRX were set to 11157804; 10848494 Phenotypes for gene: PRX were set to Dejerine Sottas disease, autosomal recessive, 145900; Charcot Marie Tooth disease, type 4F, 614895 |
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| Hereditary neuropathy or pain disorder v0.1 | PRPS1 |
Ellen McDonagh gene: PRPS1 was added gene: PRPS1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PRPS1 were set to 17701900; 24285972 Phenotypes for gene: PRPS1 were set to Charcot Marie Tooth disease, X linked recessive, 5, 311070 |
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| Hereditary neuropathy or pain disorder v0.1 | PRNP |
Ellen McDonagh gene: PRNP was added gene: PRNP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRNP were set to 24224623 |
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| Hereditary neuropathy or pain disorder v0.1 | PRDM12 |
Ellen McDonagh gene: PRDM12 was added gene: PRDM12 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRDM12 were set to hereditary sensory & autonomic neuropathy type VIII |
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| Hereditary neuropathy or pain disorder v0.1 | POLG |
Ellen McDonagh gene: POLG was added gene: POLG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); Mitochondrial DNA depletion syndrome 4A (Alpers type); Cardiomyopathy; Progressive external ophthalmoplegia, autosomal recessive 1; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Mitochondrial DNA depletion syndrome 4B (MNGIE type) |
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| Hereditary neuropathy or pain disorder v0.1 | PMP22 |
Ellen McDonagh gene: PMP22 was added gene: PMP22 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PMP22 were set to Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1A, 118220; Neuropathy, inflammatory demyelinating, 139393 |
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| Hereditary neuropathy or pain disorder v0.1 | PLEKHG5 |
Ellen McDonagh gene: PLEKHG5 was added gene: PLEKHG5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHG5 were set to 23844677; 17564964 Phenotypes for gene: PLEKHG5 were set to Spinal muscular atrophy, distal, autosomal recessive, 4, 611067; Charcot Marie Tooth disease, recessive intermediate C, 615376 |
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| Hereditary neuropathy or pain disorder v0.1 | PHYH |
Ellen McDonagh gene: PHYH was added gene: PHYH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHYH were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | PEX7 |
Ellen McDonagh gene: PEX7 was added gene: PEX7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Hereditary Neuropathies; Refsum disease |
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| Hereditary neuropathy or pain disorder v0.1 | PDHA1 |
Ellen McDonagh gene: PDHA1 was added gene: PDHA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| Hereditary neuropathy or pain disorder v0.1 | NTRK1 |
Ellen McDonagh gene: NTRK1 was added gene: NTRK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NTRK1 were set to 28940190 Phenotypes for gene: NTRK1 were set to Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis |
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| Hereditary neuropathy or pain disorder v0.1 | NGF |
Ellen McDonagh gene: NGF was added gene: NGF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NGF were set to 14976160; 1317267 Phenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654; Hereditary Sensory and Autonomic Neuropathy, Type V |
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| Hereditary neuropathy or pain disorder v0.1 | NEFL |
Ellen McDonagh gene: NEFL was added gene: NEFL was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NEFL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NEFL were set to 10841809; 23618875 Phenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot Marie Tooth disease, type 1F, 607734; Charcot Marie Tooth disease, type 2E, 607684 |
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| Hereditary neuropathy or pain disorder v0.1 | NDRG1 |
Ellen McDonagh gene: NDRG1 was added gene: NDRG1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDRG1 were set to 10831399; 28776325 Phenotypes for gene: NDRG1 were set to Charcot Marie Tooth disease, type 4D, 601455 |
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| Hereditary neuropathy or pain disorder v0.1 | MTMR2 |
Ellen McDonagh gene: MTMR2 was added gene: MTMR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTMR2 were set to 10802647; 28509084 Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382 |
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| Hereditary neuropathy or pain disorder v0.1 | MT-ATP6 |
Ellen McDonagh gene: MT-ATP6 was added gene: MT-ATP6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL |
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| Hereditary neuropathy or pain disorder v0.1 | MPZ |
Ellen McDonagh gene: MPZ was added gene: MPZ was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MPZ were set to Neuropathy, congenital hypomyelinating, 605253; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, dominant intermediate D, 607791; Roussy Levy syndrome, 180800; Charcot Marie Tooth disease, type 2J, 607736; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677 |
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| Hereditary neuropathy or pain disorder v0.1 | MPV17 |
Ellen McDonagh gene: MPV17 was added gene: MPV17 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
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| Hereditary neuropathy or pain disorder v0.1 | MORC2 |
Ellen McDonagh gene: MORC2 was added gene: MORC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Literature,South West GLH Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MORC2 were set to Charcot-Marie-Tooth disease, axonal, type 2Z Mode of pathogenicity for gene: MORC2 was set to FALSE |
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| Hereditary neuropathy or pain disorder v0.1 | MME |
Ellen McDonagh gene: MME was added gene: MME was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Other,Expert Review Green Mode of inheritance for gene: MME was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MME were set to 26991897; 27588448 Phenotypes for gene: MME were set to Charcot-Marie-Tooth disease, axonal, type 2T, 617017 |
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| Hereditary neuropathy or pain disorder v0.1 | MFN2 |
Ellen McDonagh gene: MFN2 was added gene: MFN2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MFN2 were set to Charcot Marie Tooth disease, type 2A2, 609260; Charcot-Marie-Tooth, Type 2 (Dominant); Hereditary motor and sensory neuropathy VI, 601152; MFN2 axonal neuropathy; Hereditary Motor and Sensory Neuropathy (Recessive) |
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| Hereditary neuropathy or pain disorder v0.1 | LRSAM1 |
Ellen McDonagh gene: LRSAM1 was added gene: LRSAM1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: LRSAM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LRSAM1 were set to 22781092; 28335037 Phenotypes for gene: LRSAM1 were set to Charcot Marie Toothe disease, axonal, type 2P, 614436 |
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| Hereditary neuropathy or pain disorder v0.1 | LMNA |
Ellen McDonagh gene: LMNA was added gene: LMNA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMNA were set to 11799477 Phenotypes for gene: LMNA were set to Emery Dreifuss muscular dystrophy 3, AR, 181350; Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112; Cardiomyopathy, dilated, 1A, 115200; Lipodystrophy, familial partial, 2, 151660; Emery Dreifuss muscular dystrophy 2, AD, 181350; Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670; Charcot Marie Tooth disease, type 2B1, 605588 |
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| Hereditary neuropathy or pain disorder v0.1 | LITAF |
Ellen McDonagh gene: LITAF was added gene: LITAF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LITAF were set to 28211240 Phenotypes for gene: LITAF were set to Charcot Marie Tooth disease, type 1C, 601098 |
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| Hereditary neuropathy or pain disorder v0.1 | KIF5A |
Ellen McDonagh gene: KIF5A was added gene: KIF5A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,London North GLH,Expert Review Green,NHS GMS Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF5A were set to Hereditary Neuropathies; Spastic paraplegia 10, autosomal dominant |
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| Hereditary neuropathy or pain disorder v0.1 | KIF1A |
Ellen McDonagh gene: KIF1A was added gene: KIF1A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF1A were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213 |
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| Hereditary neuropathy or pain disorder v0.1 | INF2 |
Ellen McDonagh gene: INF2 was added gene: INF2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: INF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: INF2 were set to Charcot Marie Tooth disease, dominant intermediate E, 614455 |
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| Hereditary neuropathy or pain disorder v0.1 | IGHMBP2 |
Ellen McDonagh gene: IGHMBP2 was added gene: IGHMBP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGHMBP2 were set to 26392352 Phenotypes for gene: IGHMBP2 were set to Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320 |
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| Hereditary neuropathy or pain disorder v0.1 | HSPB8 |
Ellen McDonagh gene: HSPB8 was added gene: HSPB8 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HSPB8 were set to 28780615; 23389032 Phenotypes for gene: HSPB8 were set to Neuropathy, distal hereditary motor, type IIA, 158590; Charcot Marie Tooth disease, axonal, type 2L, 608673 |
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| Hereditary neuropathy or pain disorder v0.1 | HSPB1 |
Ellen McDonagh gene: HSPB1 was added gene: HSPB1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: HSPB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HSPB1 were set to 15122254; 28379183 Phenotypes for gene: HSPB1 were set to Charcot Marie Tooth disease, axonal, type 2F, 606595; Neuropathy, distal hereditary motor, type IIB, 608634 |
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| Hereditary neuropathy or pain disorder v0.1 | HK1 |
Ellen McDonagh gene: HK1 was added gene: HK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HK1 were set to Neuropathy, hereditary motor and sensory, Russe type, 605285; Hemolytic anemia due to hexokinase deficiency, 235700 |
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| Hereditary neuropathy or pain disorder v0.1 | HINT1 |
Ellen McDonagh gene: HINT1 was added gene: HINT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hereditary neuropathy or pain disorder v0.1 | HARS |
Ellen McDonagh gene: HARS was added gene: HARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: HARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Hereditary neuropathy or pain disorder v0.1 | GLA |
Ellen McDonagh gene: GLA was added gene: GLA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,London North GLH,Expert Review Green,NHS GMS Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: GLA were set to Cardiomyopathy |
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| Hereditary neuropathy or pain disorder v0.1 | GJB1 |
Ellen McDonagh gene: GJB1 was added gene: GJB1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GJB1 were set to 8266101 Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth, X-linked; Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800 |
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| Hereditary neuropathy or pain disorder v0.1 | GDAP1 |
Ellen McDonagh gene: GDAP1 was added gene: GDAP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GDAP1 were set to 2937239; 11743579 Phenotypes for gene: GDAP1 were set to Charcot Marie Tooth disease, recessive intermediate, A, 608340; Charcot-Marie-Tooth with Vocal Cord Paresis (recessive); Charcot Marie Tooth disease, type 4A, 214400; Charcot Marie Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth, Intermediate (Dominant) |
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| Hereditary neuropathy or pain disorder v0.1 | GARS |
Ellen McDonagh gene: GARS was added gene: GARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GARS were set to 29648643 Phenotypes for gene: GARS were set to Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472 |
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| Hereditary neuropathy or pain disorder v0.1 | GAN |
Ellen McDonagh gene: GAN was added gene: GAN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAN were set to 1106248 Phenotypes for gene: GAN were set to Giant axonal neuropathy-1 |
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| Hereditary neuropathy or pain disorder v0.1 | FIG4 |
Ellen McDonagh gene: FIG4 was added gene: FIG4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIG4 were set to 17572665 Phenotypes for gene: FIG4 were set to Charcot Marie Tooth disease, type 4J, 611228; Amyotrophic lateral sclerosis 11, 612577; Yunis Varon syndrome, 216340 |
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| Hereditary neuropathy or pain disorder v0.1 | FGD4 |
Ellen McDonagh gene: FGD4 was added gene: FGD4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGD4 were set to 15744041; 17564959 Phenotypes for gene: FGD4 were set to Charcot Marie Tooth disease, type 4H, 609311; Charcot-Marie-Tooth, Type 4 |
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| Hereditary neuropathy or pain disorder v0.1 | FBLN5 |
Ellen McDonagh gene: FBLN5 was added gene: FBLN5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Hereditary neuropathy or pain disorder v0.1 | ELP1 |
Ellen McDonagh gene: ELP1 was added gene: ELP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELP1 were set to 26392352 Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900 |
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| Hereditary neuropathy or pain disorder v0.1 | EGR2 |
Ellen McDonagh gene: EGR2 was added gene: EGR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EGR2 were set to 9537424 Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth, Type 1; Charcot Marie Tooth disease, type 1D, 607678 |
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| Hereditary neuropathy or pain disorder v0.1 | DYNC1H1 |
Ellen McDonagh gene: DYNC1H1 was added gene: DYNC1H1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DYNC1H1 were set to 21820100; 26392352 Phenotypes for gene: DYNC1H1 were set to Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600; Charcot Marie Tooth disease, axonal, type 20, 614228 |
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| Hereditary neuropathy or pain disorder v0.1 | DNMT1 |
Ellen McDonagh gene: DNMT1 was added gene: DNMT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNMT1 were set to 21532572 Phenotypes for gene: DNMT1 were set to Dementia, Deafness, and Sensory Neuropathy; Neuropathy, hereditary sensory, type IE, 614116 |
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| Hereditary neuropathy or pain disorder v0.1 | DNM2 |
Ellen McDonagh gene: DNM2 was added gene: DNM2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM2 were set to 15731758 Phenotypes for gene: DNM2 were set to Charcot Marie Tooth disease, dominant intermediate B, 606482; Lethal congenital contracture syndrome 5, 615368; Charcot Marie Tooth disease, axonal, type 2M, 606482; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth, Intermediate |
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| Hereditary neuropathy or pain disorder v0.1 | COX6A1 |
Ellen McDonagh gene: COX6A1 was added gene: COX6A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX6A1 were set to 26302975; 25152455 Phenotypes for gene: COX6A1 were set to Charcot Marie Tooth disease, recessive intermediate D, 616039 |
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| Hereditary neuropathy or pain disorder v0.1 | CHCHD10 |
Ellen McDonagh gene: CHCHD10 was added gene: CHCHD10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Green,Expert Review Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD10 were set to 25428574 Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type: 615048 |
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| Hereditary neuropathy or pain disorder v0.1 | C12orf65 |
Ellen McDonagh gene: C12orf65 was added gene: C12orf65 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,South West GLH Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C12orf65 were set to 24198383; 28091420 |
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| Hereditary neuropathy or pain disorder v0.1 | BSCL2 |
Ellen McDonagh gene: BSCL2 was added gene: BSCL2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BSCL2 were set to 26392352 Phenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome 270685 |
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| Hereditary neuropathy or pain disorder v0.1 | BICD2 |
Ellen McDonagh gene: BICD2 was added gene: BICD2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,South West GLH Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BICD2 were set to 23664116 Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 |
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| Hereditary neuropathy or pain disorder v0.1 | ATP7A |
Ellen McDonagh gene: ATP7A was added gene: ATP7A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP7A were set to 20170900 Phenotypes for gene: ATP7A were set to Hereditary Neuropathies |
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| Hereditary neuropathy or pain disorder v0.1 | ATM |
Ellen McDonagh gene: ATM was added gene: ATM was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Green,South West GLH Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Hereditary Neuropathies; Ataxia-telangiectasia |
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| Hereditary neuropathy or pain disorder v0.1 | ATL3 |
Ellen McDonagh gene: ATL3 was added gene: ATL3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Green,Expert Review Mode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATL3 were set to 24459106; 24736309 |
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| Hereditary neuropathy or pain disorder v0.1 | ATL1 |
Ellen McDonagh gene: ATL1 was added gene: ATL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATL1 were set to 21194679 Phenotypes for gene: ATL1 were set to Neuropathy, hereditary sensory, type ID, 613708 |
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| Hereditary neuropathy or pain disorder v0.1 | ARHGEF10 |
Ellen McDonagh gene: ARHGEF10 was added gene: ARHGEF10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: ARHGEF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARHGEF10 were set to 14508709 Phenotypes for gene: ARHGEF10 were set to ?Slowed nerve conduction velocity, AD, 608236 |
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| Hereditary neuropathy or pain disorder v0.1 | AIFM1 |
Ellen McDonagh gene: AIFM1 was added gene: AIFM1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Green,Expert Review Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to 3856385 Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6; Cowchock syndrome |
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| Hereditary neuropathy or pain disorder v0.1 | ABCA1 |
Ellen McDonagh gene: ABCA1 was added gene: ABCA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA1 were set to 29582519 Phenotypes for gene: ABCA1 were set to pain, paresthesias, anaesthesia; Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly; Tangier disease, 205400 |
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| Hereditary neuropathy or pain disorder v0.1 | AARS |
Ellen McDonagh gene: AARS was added gene: AARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AARS were set to 20045102; 26032230, 26392352 Phenotypes for gene: AARS were set to Charcot Marie Tooth disease, axonal, type 2N, 613287; Charcot-Marie-Tooth, Type 2 |
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| Hereditary neuropathy or pain disorder v0.0 | Ellen McDonagh Added Panel Hereditary neuropathy NOT PMP22 copy number | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||