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Hereditary neuropathy v1.463 SPG7 Sarah Leigh Phenotypes for gene: SPG7 were changed from Hereditary Neuropathies; Spastic paraplegia, optic atrophy, ataxia and sensory-motor axonal neuropathy in some patients to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Hereditary neuropathy v1.462 SPAST Sarah Leigh Phenotypes for gene: SPAST were changed from Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant; Spasticity to Spastic paraplegia 4, autosomal dominant, OMIM:182601; hereditary spastic paraplegia 4, MONDO:0008438
Hereditary neuropathy v1.451 SETX Sarah Leigh Added comment: Comment on publications: PMID:25802885 - Identifiy one previously reported variant and three novel variants in 4 families. Report the variants found in CMT patients are likely nonpathogenic due to bioinformatics analysis. Report SETX c.7640T>C is a nonpathogenic rare variant;PMID: 25025039 - a likely pathogenic variant in SETX reported in a sporadic case with CMT2 and spasticity. Found with a REEP1 variant, and the authors assume digenic pathogenicity.
Hereditary neuropathy v1.451 SETX Sarah Leigh Publications for gene: SETX were set to PMID:25802885 - Identifiy one previously reported variant and three novel variants in 4 families. Report the variants found in CMT patients are likely nonpathogenic due to bioinformatics analysis. Report SETX c.7640T>C is a nonpathogenic rare variant; PMID: 25025039 - a likely pathogenic variant in SETX reported in a sporadic case with CMT2 and spasticity. Found with a REEP1 variant, and the authors assume digenic pathogenicity.
Hereditary neuropathy v1.406 GALC Arina Puzriakova Phenotypes for gene: GALC were changed from Krabbe disease, 245200; Krabbe. Spastic paraplegia, developmental delay, optic atrophy; adult onset has spastic paraplegia and sensory-motor axonal neuropathy with slow or normal conduction velocities, MRI shows leukodystrophy to Krabbe disease, OMIM:245200
Hereditary neuropathy v1.405 C12orf65 Arina Puzriakova Phenotypes for gene: C12orf65 were changed from to Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035
Hereditary neuropathy v1.402 TFG Arina Puzriakova Phenotypes for gene: TFG were changed from Hereditary motor and sensory neuropathy, proximal type, 604484; Chondrosarcoma, extraskeletal myxoid, 612237; Hereditary motor and sensory neuropathy, Okinawa type to Hereditary motor and sensory neuropathy, Okinawa type, OMIM:604484; Spastic paraplegia 57, autosomal recessive, OMIM:615658
Hereditary neuropathy v1.391 KIF1A Arina Puzriakova Phenotypes for gene: KIF1A were changed from Neuropathy, hereditary sensory, type IIC, 614213; Hereditary Sensory and Autonomic Neuropathy, Type II to Neuropathy, hereditary sensory, type IIC, OMIM:614213; Spastic paraplegia 30, autosomal dominant, OMIM:610357; Spastic paraplegia 30, autosomal recessive, OMIM:610357; NESCAV syndrome, OMIM:614255
Hereditary neuropathy v1.389 BSCL2 Arina Puzriakova Phenotypes for gene: BSCL2 were changed from Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Lipodystrophy, congenital generalized, type 2 269700; Silver spastic paraplegia syndrome 270685 to Neuropathy, distal hereditary motor, type VC, OMIM:619112
Hereditary neuropathy v1.388 KIF1A Dmitrijs Rots reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SPASTIC PARAPLEGIA 30, NESCAV SYNDROME; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy v1.352 SPAST Louise Daugherty edited their review of gene: SPAST: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.339 ABHD12 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Hereditary neuropathy v1.339 ABHD12 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red
Hereditary neuropathy v1.339 ABHD12 Louise Daugherty changed review comment from: Remains Red. From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
Hereditary neuropathy v1.339 ABHD12 Louise Daugherty edited their review of gene: ABHD12: Added comment: Remains Red. From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; Changed rating: RED
Hereditary neuropathy v1.300 SPAST Louise Daugherty commented on gene: SPAST: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.294 ABHD12 Louise Daugherty Phenotypes for gene: ABHD12 were changed from to Neurodegeneration, childhood-onset, with cerebellar atrophy,612674; Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
Hereditary neuropathy v1.280 ARL6IP1 Louise Daugherty Phenotypes for gene: ARL6IP1 were changed from to Spastic paraplegia 61, autosomal recessive, 615685; Childhood onset spastic paraplegia with mutilating, sensory to motor axonal neuropathy
Hereditary neuropathy v1.274 B4GALNT1 Louise Daugherty Phenotypes for gene: B4GALNT1 were changed from to Spastic paraplegia 26, autosomal recessive, 609195; SPG26; Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy
Hereditary neuropathy v1.269 C19orf12 Louise Daugherty Phenotypes for gene: C19orf12 were changed from to Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298; SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs
Hereditary neuropathy v1.254 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
Hereditary neuropathy v1.250 DEGS1 Louise Daugherty Phenotypes for gene: DEGS1 were changed from to Leukodystrophy, hypomyelinating, 18, 618404; Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition
Hereditary neuropathy v1.242 DSTYK Louise Daugherty Phenotypes for gene: DSTYK were changed from to Spastic paraplegia 23, 270750; Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).
Hereditary neuropathy v1.230 FA2H Louise Daugherty Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive, 612319; SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed
Hereditary neuropathy v1.220 GALC Louise Daugherty Phenotypes for gene: GALC were changed from to Krabbe disease, 245200; Krabbe. Spastic paraplegia, developmental delay, optic atrophy; adult onset has spastic paraplegia and sensory-motor axonal neuropathy with slow or normal conduction velocities, MRI shows leukodystrophy
Hereditary neuropathy v1.218 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, 614409; SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy
Hereditary neuropathy v1.215 GJC2 Louise Daugherty Phenotypes for gene: GJC2 were changed from to Spastic paraplegia 44, autosomal recessive, 613206; Leukodystrophy, hypomyelinating, 2, 608804; Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy
Hereditary neuropathy v1.205 KCNA2 Louise Daugherty Phenotypes for gene: KCNA2 were changed from to Epileptic encephalopathy, early infantile, 32, 616366; Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family
Hereditary neuropathy v1.202 KLC2 Louise Daugherty Phenotypes for gene: KLC2 were changed from to Spastic paraplegia, optic atrophy, and neuropathy, 609541; SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy
Hereditary neuropathy v1.173 POLR3A Louise Daugherty Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications; Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain
Hereditary neuropathy v1.172 POLR3A Louise Daugherty Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications
Hereditary neuropathy v1.147 SELENOI Louise Daugherty Phenotypes for gene: SELENOI were changed from to Infantile onset, global developmental delay, spasticity, periventricular white mater signal change on MRI, peripheral neuropathy with SNCV. Seizures and bifid uvula in some affected individuals
Hereditary neuropathy v1.142 SLC25A46 Louise Daugherty Phenotypes for gene: SLC25A46 were changed from Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy to Neuropathy, hereditary motor and sensory, type VIB, 616505; Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy
Hereditary neuropathy v1.141 SLC25A46 Louise Daugherty Phenotypes for gene: SLC25A46 were changed from to Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy
Hereditary neuropathy v1.121 SLC25A46 Alexander Rossor reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: 26168012; Phenotypes: Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 SELENOI Alexander Rossor reviewed gene: SELENOI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile onset, global developmental delay, spasticity, periventricular white mater signal change on MRI, peripheral neuropathy with SNCV. Seizures and bifid uvula in some affected individuals; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 POLR3A Alexander Rossor reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28459997; Phenotypes: Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications (hypodontia, severe peridontal disease. Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain. Abnormal nerve conduction in 8 out of 14 cases.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 KLC2 Alexander Rossor reviewed gene: KLC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26385635; Phenotypes: SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 KCNA2 Alexander Rossor reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27543892; Phenotypes: Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy v1.121 GJC2 Alexander Rossor reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 GBA2 Alexander Rossor reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23332916; Phenotypes: SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 GALC Alexander Rossor reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Krabbe. Spastic paraplegia, developmental delay, optic atrophy, adult onset has spastic paraplegia and sensory-motor axonal neuropathy with slow or normal conduction velocities, MRI shows leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 FA2H Alexander Rossor reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: 22146942; Phenotypes: SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 DSTYK Alexander Rossor reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: ; Publications: 28157540; Phenotypes: Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 DEGS1 Alexander Rossor reviewed gene: DEGS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30620338, 30620337; Phenotypes: Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 DARS2 Alexander Rossor reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938; Phenotypes: Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 C19orf12 Alexander Rossor reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: 20039086, 23857908; Phenotypes: SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 B4GALNT1 Alexander Rossor reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746551; Phenotypes: SPG26, Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 ARL6IP1 Alexander Rossor reviewed gene: ARL6IP1: Rating: RED; Mode of pathogenicity: ; Publications: 24482476; Phenotypes: Childhood onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 ABHD12 Alexander Rossor reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29571850, 20797687; Phenotypes: Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.105 ZFYVE26 Louise Daugherty Phenotypes for gene: ZFYVE26 were changed from Hereditary Neuropathies; Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy to Spastic paraplegia 15, autosomal recessive, 270700; Hereditary Neuropathies; Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy
Hereditary neuropathy v1.104 ZFYVE26 Louise Daugherty Phenotypes for gene: ZFYVE26 were changed from Hereditary Neuropathies to Hereditary Neuropathies; Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy
Hereditary neuropathy v1.94 SPG7 Louise Daugherty Phenotypes for gene: SPG7 were changed from Hereditary Neuropathies to Hereditary Neuropathies; Spastic paraplegia, optic atrophy, ataxia and sensory-motor axonal neuropathy in some patients
Hereditary neuropathy v1.92 SPAST Louise Daugherty Phenotypes for gene: SPAST were changed from Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant to Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant; Spasticity
Hereditary neuropathy v1.91 SPAST Louise Daugherty Publications for gene: SPAST were set to
Hereditary neuropathy v1.90 SOX10 Louise Daugherty Phenotypes for gene: SOX10 were changed from Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 to Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease
Hereditary neuropathy v1.84 PNPLA6 Louise Daugherty Phenotypes for gene: PNPLA6 were changed from Hereditary Neuropathies to Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia; progressive distal motor neuropathy beginning in early through late adolescence
Hereditary neuropathy v1.81 SPAST Alexander Rossor edited their review of gene: SPAST: Added comment: Peripheral neuropathy in > unrelated individuals in above case series; Changed rating: GREEN; Changed publications: 28572275; Changed phenotypes: spasticity; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy v1.81 SPAST Alexander Rossor Deleted their comment
Hereditary neuropathy v1.81 ZFYVE26 Alexander Rossor edited their review of gene: ZFYVE26: Changed rating: GREEN; Changed phenotypes: Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.81 SPG7 Alexander Rossor edited their review of gene: SPG7: Changed rating: GREEN; Changed phenotypes: Spastic paraplegia, optic atrophy, ataxia and sensory-motor axonal neuropathy in some patients; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.81 SOX10 Alexander Rossor edited their review of gene: SOX10: Changed rating: GREEN; Changed phenotypes: Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.81 PNPLA6 Alexander Rossor edited their review of gene: PNPLA6: Added comment: Complex phenotype with neuropathy (>3 families); Changed rating: GREEN; Changed publications: 24355708; Changed phenotypes: Childhood onset of slowly progressive spastic paraplegia, progressive distal motor neuropathy beginning in early through late adolescence; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.80 SPAST Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SPAST Louise Daugherty commented on gene: SPAST: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.60 REEP1 Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant 610250 for gene: REEP1
Publications for gene REEP1 were changed from to 19034539; 22703882
Hereditary neuropathy v1.60 NIPA1 Louise Daugherty Added phenotypes Hereditary Neuropathies; Spastic paraplegia 6, autosomal dominant for gene: NIPA1
Publications for gene NIPA1 were changed from PMID: 22302102; 21419568; 14508710; 15643603; 15711826 to 22302102; 21419568; 15643603; 15711826; 14508710
Hereditary neuropathy v1.60 CCT5 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840; Sensory Neuropathy with Spastic Paraplegia for gene: CCT5
Publications for gene CCT5 were changed from to 16399879
Hereditary neuropathy v1.60 BSCL2 Louise Daugherty Added phenotypes Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Lipodystrophy, congenital generalized, type 2 269700; Silver spastic paraplegia syndrome 270685 for gene: BSCL2
Publications for gene BSCL2 were changed from PMID: 26392352 to 26392352
Hereditary neuropathy v1.58 REEP1 Natalie Forrester reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19034539, 22703882; Phenotypes: Spastic paraplegia 31, autosomal dominant 610250, ?Neuronopathy, distal hereditary motor, type VB, 614751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary neuropathy v1.58 NIPA1 Natalie Forrester reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: ; Publications: 22302102, 21419568, 14508710, 15643603, 15711826; Phenotypes: Hereditary Neuropathies, Spastic paraplegia 6, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.58 CCT5 Natalie Forrester reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: 16399879; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia, 256840, Sensory Neuropathy with Spastic Paraplegia , Neuropathy, hereditary sensory, with spastic paraplegia, 256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.58 BSCL2 Natalie Forrester reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26392352; Phenotypes: Neuropathy, distal hereditary motor, type VA 600794, Silver spastic paraplegia syndrome 270685, Lipodystrophy, congenital generalized, type 2 269700, Encephalopathy, progressive, with or without lipodystrophy, 615924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.55 SPAST Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SPAST James Polke reviewed gene: SPAST: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.51 SPAST Louise Daugherty Source NHS GMS was added to SPAST.
Hereditary neuropathy v1.50 SPAST Louise Daugherty Source London North GLH was added to SPAST.
Rating Changed from Green List (high evidence) to Green List (high evidence)