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| Hereditary Neuropathy v1.165 | Bryony Thompson Copied gene SORD from panel Hereditary Neuropathy_CMT - isolated | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.165 | SORD |
Bryony Thompson gene: SORD was added gene: SORD was added to Hereditary Neuropathy. Sources: Expert Review Green,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 isolated hereditary neuropathy; Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912 |
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| Hereditary Neuropathy v1.158 | SCN9A |
Bryony Thompson gene: SCN9A was added gene: SCN9A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN9A were set to Erythermalgia, primary, MIM# 133020; Insensitivity to pain, congenital, MIM# 243000; Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000; Paroxysmal extreme pain disorder, MIM# 167400; Small fiber neuropathy,MIM# 133020 |
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| Hereditary Neuropathy v1.51 | TRMT1L |
Zornitza Stark gene: TRMT1L was added gene: TRMT1L was added to Hereditary Neuropathy - complex. Sources: Expert Review Red,Literature Mode of inheritance for gene: TRMT1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT1L were set to 39786990 Phenotypes for gene: TRMT1L were set to Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related |
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| Hereditary Neuropathy v1.48 | KIF21A |
Rylee Peters gene: KIF21A was added gene: KIF21A was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF21A were set to 37921537; 39643435; 41282472; 32141982; 24715754; 36494820; 22699964 Phenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700 Review for gene: KIF21A was set to GREEN Added comment: Autosomal dominant congenital fibrosis of extraocular muscles (CFEOM) is well established. This autosomal dominant condition is also associated with a spectrum of severity as a more complex disorder has also been reported in the literature including brain MRI anomalies, ataxia, peripheral neuropathy, contractures, facial weakness, delayed speech/motor development; intellectual disability has been reported in only 2 individuals (PMIDs: 37921537, 39643435, 41282472, 32141982, 24715754, 36494820, 22699964). Sources: Literature |
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| Hereditary Neuropathy v1.29 | NDC1 | Zornitza Stark Phenotypes for gene: NDC1 were changed from triple-A syndrome MONDO:0009279 to Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.28 | NDC1 | Zornitza Stark reviewed gene: NDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.10 | NARS | Zornitza Stark changed review comment from: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).; to: Both MOIs assessed as MODERATE by ClinGen. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.10 | NARS | Zornitza Stark commented on gene: NARS: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.265 | PMM2 | Sangavi Sivagnanasundram reviewed gene: PMM2: Rating: RED; Mode of pathogenicity: None; Publications: 20301507, 20301289; Phenotypes: Congenital disorder of glycosylation, type Ia (MIM#212065); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.237 | NGLY1 | Zornitza Stark Phenotypes for gene: NGLY1 were changed from Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy to Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273); Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.215 | PEX7 | Sangavi Sivagnanasundram reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: 20301447, 12325024; Phenotypes: Peroxisome biogenesis disorder 9B (MIM#614879); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.215 | NGLY1 | Sangavi Sivagnanasundram reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581936, 27388694, 29419975; Phenotypes: Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.205 | ABCA1 | Zornitza Stark changed review comment from: Neuropathy is a key feature of this metabolic disorder.; to: Neuropathy is a feature of this metabolic disorder. 54 individuals with neuropathy summarised in PMID 29582519. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | ATAD3A |
Sangavi Sivagnanasundram changed review comment from: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A PMID: 27640307 5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy. Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic. The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for both LoF and GoF.Therefore the mode of pathogenicity is suggestive of dominant negative. AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.; to: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A PMID: 27640307 5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy. Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic. The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for both LoF and GoF.Therefore the mode of pathogenicity is suggestive of dominant negative. AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset. |
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| Hereditary Neuropathy v0.166 | ATAD3A |
Sangavi Sivagnanasundram changed review comment from: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A PMID: 27640307 5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy. Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic. The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for bothe LoF and GoF. Therefore the mode of pathogenicity is suggestive of dominant negative. AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.; to: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A PMID: 27640307 5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy. Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic. The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for both LoF and GoF.Therefore the mode of pathogenicity is suggestive of dominant negative. AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset. |
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| Hereditary Neuropathy v0.156 | COX10 | Zornitza Stark Phenotypes for gene: COX10 were changed from Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; HMSN to Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.118 | SLC5A6 |
Zornitza Stark gene: SLC5A6 was added gene: SLC5A6 was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to 35013551 Phenotypes for gene: SLC5A6 were set to Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 Review for gene: SLC5A6 was set to GREEN Added comment: Multi-system potentially treatable disorder. Five individuals from three families reported with motor neuropathies. Sources: Literature |
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| Hereditary Neuropathy v0.107 | SLC25A46 |
Zornitza Stark changed review comment from: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy. Sources: Expert list; to: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum. Sources: Expert list |
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| Hereditary Neuropathy v0.92 | NEMF | Zornitza Stark Phenotypes for gene: NEMF were changed from Intellectual disability; neuropathy to Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099; Intellectual disability; neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.91 | NEMF | Zornitza Stark edited their review of gene: NEMF: Changed phenotypes: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099, Intellectual disability, neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.91 | NARS | Zornitza Stark Phenotypes for gene: NARS were changed from Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.90 | NARS | Zornitza Stark edited their review of gene: NARS: Changed phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092, Abnormal muscle tone, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Ataxia, Abnormality of the face, Demyelinating peripheral neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.83 | EXOSC9 |
Zornitza Stark gene: EXOSC9 was added gene: EXOSC9 was added to Hereditary Neuropathy - complex. Sources: Expert Review Mode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC9 were set to 30690203; 29727687 Phenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D, MIM# 618065 Review for gene: EXOSC9 was set to GREEN Added comment: Six unrelated families reported, p.Leu14Pro variant is recurrent, disorder combines cerebellar atrophy and spinal motoneuronopathy. Sources: Expert Review |
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| Hereditary Neuropathy v0.76 | NARS |
Zornitza Stark gene: NARS was added gene: NARS was added to Hereditary Neuropathy - complex. Sources: Literature new gene name tags were added to gene: NARS. Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NARS were set to 32738225 Phenotypes for gene: NARS were set to Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy Review for gene: NARS was set to GREEN Added comment: [Please note that HGNC Approved Gene Symbol for this gene is NARS1] Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families. Similar features were reported for AR/AD occurrences of the disorder and included microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features. NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported. Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all]. The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model). Sources: Literature |
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| Hereditary Neuropathy v0.74 | ACOX1 |
Zornitza Stark changed review comment from: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Sources: Expert list; to: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Note that bi-allelic variants in this gene cause a peroxisomal disorder. Sources: Expert list |
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| Hereditary Neuropathy v0.74 | ACOX1 |
Zornitza Stark gene: ACOX1 was added gene: ACOX1 was added to Hereditary Neuropathy - complex. Sources: Expert list 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 Added comment: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Sources: Expert list |
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| Hereditary Neuropathy v0.72 | STUB1 |
Zornitza Stark gene: STUB1 was added gene: STUB1 was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STUB1 were set to 32342324; 32337344 Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768 Review for gene: STUB1 was set to GREEN Added comment: PMID: 32342324 - Gene causes both AD and AR spinocerebellar ataxia. Reviews 17 families (31 patients, adolescent/childhood onset), all patients developed progressive cerebellar ataxia, associated with dysmetria and dysarthria, corticospinal signs (19/31), myoclonus (7/31) and generalized tonic– clonic seizures (4/31), peripheral nervous system involvement (4/12). PMID: 32337344 - 1 large family with adult-onset gait disturbance and cognitive decline. Neuropathy is a feature of the more severe, bi-allelic disorder. Sources: Literature |
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| Hereditary Neuropathy v0.67 | ADPRHL2 |
Crystle Lee gene: ADPRHL2 was added gene: ADPRHL2 was added to Hereditary Neuropathy - complex. Sources: Expert Review Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADPRHL2 were set to 30100084; 30401461 Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170) Review for gene: ADPRHL2 was set to GREEN Added comment: Peripheral (sensori-)motor axonal neuropathy is a feature of this progressive neurodegenerative disorder. >5 families have been reported. Sources: Expert Review |
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| Hereditary Neuropathy v0.44 | SLC25A46 |
Zornitza Stark gene: SLC25A46 was added gene: SLC25A46 was added to Hereditary Neuropathy - complex. Sources: Expert list Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A46 were set to 26168012; 27543974 Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Review for gene: SLC25A46 was set to GREEN Added comment: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy. Sources: Expert list |
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| Hereditary Neuropathy v0.11 | PEX10 | Bryony Thompson reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 27230853, 20695019; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870, Peroxisome biogenesis disorder 6B MIM#614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.5 | SPTBN4 |
Bryony Thompson gene: SPTBN4 was added gene: SPTBN4 was added to Hereditary Neuropathy - complex_RMH. Sources: Literature Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN4 were set to 28540413; 29861105 Phenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Review for gene: SPTBN4 was set to GREEN Added comment: 6 families with a severe neurological syndrome that includes congenital hypotonia, intellectual disability, and motor axonal and auditory neuropathy Sources: Literature |
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| Hereditary Neuropathy v0.0 | PEX12 |
Bryony Thompson gene: PEX12 was added gene: PEX12 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX12 were set to 24627108 Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859; HMSN |
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| Hereditary Neuropathy v0.0 | COX10 |
Bryony Thompson gene: COX10 was added gene: COX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX10 were set to Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; HMSN |
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