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Inherited white matter disorders v1.177 | NOTCH3 | Arina Puzriakova Mode of inheritance for gene: NOTCH3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.176 | NOTCH3 | Arina Puzriakova Phenotypes for gene: NOTCH3 were changed from CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.174 | SUCLA2 | Arina Puzriakova Phenotypes for gene: SUCLA2 were changed from Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 5; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.173 | SPG7 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic, autosomal or pseudoautosomal.; to: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.173 | SPG7 | Sarah Leigh edited their review of gene: SPG7: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.173 | SPG7 | Sarah Leigh Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.171 | SPG7 | Sarah Leigh commented on gene: SPG7: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.171 | SPG7 | Sarah Leigh edited their review of gene: SPG7: Changed rating: GREEN; Changed publications to: 9635427, 16534102, 17646629, 18200586, 20186691, 22571692; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.170 | SPG7 | Sarah Leigh Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, MIM#607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.167 | PAFAH1B1 | Arina Puzriakova Phenotypes for gene: PAFAH1B1 were changed from Cerebral Malformation Disorders; Lissencephaly 1; Lissencephaly/Subcortical Band Heterotopia to Lissencephaly 1, OMIM:607432; Subcortical laminar heterotopia, OMIM:607432 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.166 | DCX | Arina Puzriakova Phenotypes for gene: DCX were changed from Cerebral Malformation Disorders; Lissencephaly, X-Linked, 1; Classic Lissencephaly/Subcortical Band Heterotopia; Lissencephaly, X-linked, 300067; Subcortical laminal heteropia, X-linked, 300067 to Lissencephaly, X-linked, OMIM:300067; Subcortical laminal heterotopia, X-linked, OMIM:300067 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.163 | ADAR | Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from both mono- and biallelic to biallelic only. Monoallelic variants have been linked to brain calcification in AD disease (MIM# 127400) with neurological symptoms, however, white matter abnormalities were not reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.163 | ADAR | Arina Puzriakova Mode of inheritance for gene: ADAR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.161 | ACOX1 | Arina Puzriakova Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency 264470; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitchell syndrome, OMIM:618960 to Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470; Mitchell syndrome, OMIM:618960; General Leukodystrophy & Mitochondrial Leukoencephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.159 | MAL | Sarah Leigh reviewed gene: MAL: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.159 | MAL | Sarah Leigh Classified gene: MAL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.159 | MAL | Sarah Leigh Gene: mal has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.158 | MAL |
Julia Baptista gene: MAL was added gene: MAL was added to Inherited white matter disorders. Sources: Literature Mode of inheritance for gene: MAL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAL were set to 35217805 Phenotypes for gene: MAL were set to developmental delay; nystagmus; progressive motor deterioration; dysmyelination Review for gene: MAL was set to AMBER Added comment: Single consanguineous family reported with two affected children (DD and nystagmus). New onset ataxia and cerebellar volume loss with patchy dysmyelination. Homozygous missense variant identified by exome analysis segregated with the condition. Functional data suggested that p.(Ala109Asp) severely affects protein folding of MAL, leading to mislocalization in the ER. Sources: Literature |
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Inherited white matter disorders v1.156 | PEX6 | Sarah Leigh Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.154 | PEX6 | Sarah Leigh Added comment: Comment on mode of pathogenicity: Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.151 | TWNK | Arina Puzriakova Mode of inheritance for gene: TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.146 | COLGALT1 |
Ivone Leong gene: COLGALT1 was added gene: COLGALT1 was added to Inherited white matter disorders. Sources: Literature,Expert Review Amber Q4_21_rating tags were added to gene: COLGALT1. Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLGALT1 were set to 30412317; 33709034; 31759980 Phenotypes for gene: COLGALT1 were set to Brain small vessel disease 3, OMIM:618360 |
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Inherited white matter disorders v1.145 | LMNB1 | Arina Puzriakova Phenotypes for gene: LMNB1 were changed from Leukodystrophy,adult-onset, autosomal dominant,169500; Adult onset autosomal dominant leukodystrophy (ADLD); General Leukodystrophy & Mitochondrial Leukoencephalopathy to Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.143 | CSF1R | Arina Puzriakova Added comment: Comment on mode of inheritance: MOI was updated from 'Monoallelic' to 'Both mono- and biallelic'. CSF1R is associated with two relevant disorders both including white matter abnormalities - one of which shows biallelic inheritance (Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476) while the other is associated with monoallelic inheritance (Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.143 | CSF1R | Arina Puzriakova Mode of inheritance for gene: CSF1R was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.142 | CSF1R | Arina Puzriakova Phenotypes for gene: CSF1R were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy to Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.140 | ATP11A |
Ivone Leong gene: ATP11A was added gene: ATP11A was added to Inherited white matter disorders. Sources: Expert Review Amber,Literature watchlist tags were added to gene: ATP11A. Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP11A were set to 34403372 Phenotypes for gene: ATP11A were set to Neurodevelopmental disorder |
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Inherited white matter disorders v1.138 | EIF2AK2 | Arina Puzriakova edited their review of gene: EIF2AK2: Added comment: A further 5 families reported (PMID: 33236446) harbouring 3 different variants in this gene (including the first homozygous case). Clinical presentation was prominent in all cases for dystonia with onset in infancy or childhood, with subsequent generalisation. 3 unrelated individuals additionally developed mild ID, spasticity, and brain MRI alterations (including white matter abnormalities); while 6 individuals from the remaining 2 families had only isolated dystonia.; Changed publications to: 32197074, 33236446 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.137 | PI4KA | Ivone Leong Entity copied from Ataxia and cerebellar anomalies - narrow panel v2.233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.137 | PI4KA |
Ivone Leong gene: PI4KA was added gene: PI4KA was added to Inherited white matter disorders. Sources: Expert Review Amber Q3_21_rating tags were added to gene: PI4KA. Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to 25855803; 34415322; 34415310 Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
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Inherited white matter disorders v1.136 | GJA1 | Arina Puzriakova Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia (AD) 164200; Oculodentodigital dysplasia, autosomal recessive 257850 to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.129 | ACOX1 |
Ivone Leong changed review comment from: Comment on mode of inheritance: PMID: 32169171. 3 unrelated patients with the same de novo variant (N237S) with a progressive disease. Age of onset is between 3-12 years old (cf to AR patients 0-3 years old), disease course is progressive (AR patients, early onset and severe) white matter demyelination is progressive, sensorineural hearing loss and ataxia. Authors found that the variant increased levels of ACOX1 protein and function which increased levels of ROS in glia of Drosphila and mouse Schwann cells leading to glial degeneration. The authors suggested that the variant caused a GOF effect. Therefore, MOI should be changed from Biallelic to Both monoallelic and biallelic (but biallelic mutations cuase a more severe disease form).; to: Comment on mode of inheritance: PMID: 32169171. 3 unrelated patients with the same de novo variant (N237S) with a progressive disease. Age of onset is between 3-12 years old (cf to AR patients 0-3 years old), disease course is progressive (AR patients, early onset and severe) white matter demyelination is progressive, sensorineural hearing loss and ataxia. Authors found that the variant increased levels of ACOX1 protein and function which increased levels of ROS in glia of Drosphila and mouse Schwann cells leading to glial degeneration. The authors suggested that the variant caused a GOF effect. AD causes Mitchell syndrome (OMIM:618960) and AR causes Peroxisomal acyl-CoA oxidase deficiency (OMIM:264470). Therefore, MOI should be changed from Biallelic to Both monoallelic and biallelic (but biallelic mutations cuase a more severe disease form). |
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Inherited white matter disorders v1.129 | ACOX1 | Ivone Leong Mode of inheritance for gene: ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.127 | ACOX1 | Ivone Leong Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency 264470; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Peroxisomal acyl-CoA oxidase deficiency 264470; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitchell syndrome, OMIM:618960 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.117 | CYP7B1 | Arina Puzriakova Phenotypes for gene: CYP7B1 were changed from to Spastic paraplegia 5A, autosomal recessive, OMIM:270800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.105 | HSPD1 | Ivone Leong Mode of inheritance for gene: HSPD1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.104 | HSPD1 | Ivone Leong Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233 to Leukodystrophy, hypomyelinating, 4, OMIM:612233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.102 | RAB11B | Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Green. At least 2 variants reported in 5 unrelated cases, of which white matter abnormalities were reported in all cases (4) for which brain imaging was available. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.101 | RAB11B | Arina Puzriakova reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.100 | NAXE | Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Green. Sufficient number of unrelated cases (>3) with white matter abnormalities to rate as Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.98 | NAXE | Arina Puzriakova reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616477, 27122014, 27290639, 30022751, 31758406, 31745726; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, OMIM:617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.96 | LIG3 |
Ivone Leong gene: LIG3 was added gene: LIG3 was added to Inherited white matter disorders. Sources: Literature,Expert Review Amber Q2_21_rating tags were added to gene: LIG3. Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG3 were set to 33855352 Phenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy; mitochondrial DNA depletion |
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Inherited white matter disorders v1.95 | POLR3K |
Ivone Leong gene: POLR3K was added gene: POLR3K was added to Inherited white matter disorders. Sources: Expert Review Amber,Literature watchlist, founder-effect tags were added to gene: POLR3K. Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3K were set to 30584594; 33659930 Phenotypes for gene: POLR3K were set to Leukodystrophy, hypomyelinating, 21, OMIM:619310 |
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Inherited white matter disorders v1.87 | ACBD5 | Arina Puzriakova reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23105016, 27899449, 27799409, 33427402; Phenotypes: Retinal dystrophy with leukodystrophy, OMIM:618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.82 | TMEM106B | Arina Puzriakova reviewed gene: TMEM106B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 29186371, 29444210, 30643851, 32595021; Phenotypes: Leukodystrophy, hypomyelinating, 16 OMIM:617964; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.81 | EIF2AK2 |
Arina Puzriakova gene: EIF2AK2 was added gene: EIF2AK2 was added to Inherited white matter disorders. Sources: Literature Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF2AK2 were set to 32197074 Phenotypes for gene: EIF2AK2 were set to Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 Review for gene: EIF2AK2 was set to GREEN Added comment: Association with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation reported in both OMIM and G2P (probable). PMID: 32197074 (2020) - Distinct de novo missense variants were identified in eight unrelated individuals who all share a notable phenotypic overlap of developmental delay, cognitive impairment, white matter alterations, dysarthria or lack of speech, and neurologic regression with febrile illness. Other variable features included hypotonia (7/8), hypertonia (7/8), ataxia (6/8), dystonia (5/8), tremor (3/8) and seizures (4/8). Functional data confirm reduced kinase activity compared to the wildtype protein product, and authors predict a dominant-negative effect. Sources: Literature |
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Inherited white matter disorders v1.78 | NDUFA2 | Arina Puzriakova reviewed gene: NDUFA2: Rating: ; Mode of pathogenicity: None; Publications: 18513682, 28857146, 32154054; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13, 618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.77 | GALNT2 |
Sarah Leigh gene: GALNT2 was added gene: GALNT2 was added to Inherited white matter disorders. Sources: Literature for-review tags were added to gene: GALNT2. Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNT2 were set to 27508872; 32293671 Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt 618885 Review for gene: GALNT2 was set to GREEN Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least 5 unrelated cases, together with mouse and rat models (PMID 27508872;32293671). Sources: Literature |
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Inherited white matter disorders v1.76 | SLC25A4 | Sarah Leigh Mode of inheritance for gene: SLC25A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.74 | SLC25A4 | Sarah Leigh Phenotypes for gene: SLC25A4 were changed from Mitochondrial Leukoencephalopathy to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.70 | POLG2 | Sarah Leigh Added comment: Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome and in an autosomal recessive epilepsy family without ophthalmoplegia (PMID 27592148; 30157269; 31286721). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.70 | POLG2 | Sarah Leigh Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.64 | CYP27A1 | Philip Dawson reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30467211, ISBN 9780511545054; Phenotypes: Cerebrotendinous xanthomatosis, 213700 Inherited white matter disorders.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.61 | SON |
Ellen Thomas gene: SON was added gene: SON was added to Inherited white matter disorders. Sources: Other Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SON were set to ZTTK SYNDROME Added comment: Green on ID panel, can include white matter abnormalities according to OMIM. Sources: Other |