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Inherited white matter disorders v1.179 RARS Arina Puzriakova Publications for gene: RARS were set to 24777941; 27564080
Inherited white matter disorders v1.178 RARS Arina Puzriakova Phenotypes for gene: RARS were changed from Leukodystrophy, hypomyelinating, 9 616140 to Leukodystrophy, hypomyelinating, 9, OMIM:616140
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 v1.175 NDUFS1 Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I disorders; Mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
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 v1.172 SPG7 Sarah Leigh Publications for gene: SPG7 were set to 22571692, 17646629
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 v1.171 SPG7 Sarah Leigh Classified gene: SPG7 as Green List (high evidence)
Inherited white matter disorders v1.171 SPG7 Sarah Leigh Gene: spg7 has been classified as Green List (High Evidence).
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 v1.169 LAMB1 Sarah Leigh Publications for gene: LAMB1 were set to 23472759; 25925986; 29888467
Inherited white matter disorders v1.168 LAMB1 Sarah Leigh Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, OMIM:615191 to Lissencephaly 5, OMIM:615191; cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077
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 v1.165 COX15 Arina Puzriakova Phenotypes for gene: COX15 were changed from Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorders to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119; Mitochondrial Leukoencephalopathy
Inherited white matter disorders v1.164 COX10 Arina Puzriakova Phenotypes for gene: COX10 were changed from Mitochondrial complex IV disorder; Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Inherited white matter disorders v1.163 FAM126A Eleanor Williams commented on gene: FAM126A
Inherited white matter disorders v1.163 FAM126A Eleanor Williams Tag new-gene-name tag was added to gene: FAM126A.
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 v1.162 ADAR Arina Puzriakova Phenotypes for gene: ADAR were changed from Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Aicardi-Goutieres syndrome 6, OMIM:615010; General Leukodystrophy & Mitochondrial Leukoencephalopathy
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 v1.160 SDHB Arina Puzriakova Phenotypes for gene: SDHB were changed from Mitochondrial Leukoencephalopathy; Succinate dehydrogenase-deficient leukoencephalopathy; complex II deficiency to Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224
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
Inherited white matter disorders v1.158 HEPACAM Arina Puzriakova Phenotypes for gene: HEPACAM were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Megalencephalic leukoencephalopathy with subcortical cysts (MLC); Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation to Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926
Inherited white matter disorders v1.157 PEX6 Sarah Leigh Penetrance for gene PEX6 was set from to Complete
Inherited white matter disorders v1.156 PEX6 Sarah Leigh Added comment: Comment on mode of inheritance: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230.
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 v1.155 PEX6 Sarah Leigh Mode of pathogenicity for gene: PEX6 was changed from None to Other
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 v1.154 PEX6 Sarah Leigh Mode of pathogenicity for gene: PEX6 was changed from to None
Inherited white matter disorders v1.153 PEX6 Sarah Leigh Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4A (Zellweger) 614862; Peroxisome biogenesis disorder 4B 614863 to Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862; Peroxisome biogenesis disorder 4B, OMIM:614863
Inherited white matter disorders v1.152 PEX6 Sarah Leigh Publications for gene: PEX6 were set to 25655951
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 v1.150 TWNK Arina Puzriakova Tag Q1_22_MOI was removed from gene: TWNK.
Inherited white matter disorders v1.150 TWNK Arina Puzriakova Tag Q1_22_MOI tag was added to gene: TWNK.
Inherited white matter disorders v1.150 RNASEH2B Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres syndrome 2 to Aicardi-Goutieres syndrome 2, OMIM:610181
Inherited white matter disorders v1.149 IFIH1 Arina Puzriakova Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 7; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Aicardi-Goutieres syndrome 7, OMIM:615846
Inherited white matter disorders v1.148 IBA57 Arina Puzriakova Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3, 615330 to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330
Inherited white matter disorders v1.147 COLGALT1 Ivone Leong Tag Q4_21_rating was removed from gene: COLGALT1.
Inherited white matter disorders v1.147 COLGALT1 Ivone Leong Classified gene: COLGALT1 as Green List (high evidence)
Inherited white matter disorders v1.147 COLGALT1 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green as per my review.
Inherited white matter disorders v1.147 COLGALT1 Ivone Leong Gene: colgalt1 has been classified as Green List (High Evidence).
Inherited white matter disorders v1.146 COLGALT1 Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association.
Inherited white matter disorders v1.146 COLGALT1 Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.216
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
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 v1.144 CSF1R Arina Puzriakova Publications for gene: CSF1R were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_605
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 v1.141 CLCN2 Arina Puzriakova Phenotypes for gene: CLCN2 were changed from Chloride Ion Channel 2(ClC-2) related leukoencephalopathy with intramyelinic oedema; Leukoencephalopathy with ataxia; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Leukoencephalopathy with ataxia, OMIM:615651
Inherited white matter disorders v1.140 ATP11A Ivone Leong Entity copied from Intellectual disability v3.1353
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
Inherited white matter disorders v1.139 EIF2AK2 Arina Puzriakova Publications for gene: EIF2AK2 were set to 32197074
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 v1.138 EIF2AK2 Arina Puzriakova Tag missense tag was added to gene: EIF2AK2.
Inherited white matter disorders v1.138 PI4KA Ivone Leong Classified gene: PI4KA as Green List (high evidence)
Inherited white matter disorders v1.138 PI4KA Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. There is enough evidence to support a gene-disease association.
Inherited white matter disorders v1.138 PI4KA Ivone Leong Gene: pi4ka has been classified as Green List (High Evidence).
Inherited white matter disorders v1.137 PI4KA Ivone Leong Tag Q3_21_rating was removed from gene: PI4KA.
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
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 v1.135 GBE1 Arina Puzriakova Phenotypes for gene: GBE1 were changed from Polyglucosan Body Disease (PGBD); General Leukodystrophy & Mitochondrial Leukoencephalopathy; Polyglucosan body disease, adult form to Polyglucosan body disease, adult form, OMIM:263570; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Inherited white matter disorders v1.134 GALC Arina Puzriakova Phenotypes for gene: GALC were changed from Krabbe disease 245200 to Krabbe disease, OMIM:245200
Inherited white matter disorders v1.133 ALDH3A2 Arina Puzriakova Phenotypes for gene: ALDH3A2 were changed from Sjogren Larsson syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Sjogren-Larsson syndrome, OMIM:270200; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Inherited white matter disorders v1.132 SLC16A2 Arina Puzriakova Phenotypes for gene: SLC16A2 were changed from Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease; Allan-Herndon-Dudley syndrome; Monocarboxylate transporter 8 deficiency (MCT8); General Leukodystrophy & Mitochondrial Leukoencephalopathy to Allan-Herndon-Dudley syndrome, OMIM:300523; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease; Monocarboxylate transporter 8 deficiency (MCT8)
Inherited white matter disorders v1.131 AIMP1 Arina Puzriakova Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3 260600 to Leukodystrophy, hypomyelinating, 3, OMIM:260600
Inherited white matter disorders v1.130 COQ2 Ivone Leong Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1; Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Coenzyme Q10 deficiency, primary, 1, OMIM:607426; General Leukodystrophy & Mitochondrial Leukoencephalopathy
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).
Inherited white matter disorders v1.129 ACOX1 Ivone Leong Added comment: 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).
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 v1.128 ACOX1 Ivone Leong Publications for gene: ACOX1 were set to 25655951; 11815777; 17458872; Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_648
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 v1.126 POLR3B Arina Puzriakova Phenotypes for gene: POLR3B were changed from Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381; Pol III-Related Leukodystrophy; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381
Inherited white matter disorders v1.125 SDHA Ivone Leong Phenotypes for gene: SDHA were changed from Mitochondrial respiratory chain complex II deficiency, MIM#252011 to Mitochondrial respiratory chain complex II deficiency, OMIM:252011
Inherited white matter disorders v1.124 SDHA Ivone Leong Added comment: Comment on publications: PMID: 24781757. 4 unrelated patients. 1/4 had leukodystrophy, 1/4 had cerebral atrophy and 1/4 had both leukodystrophy and cerebral atrophy. PMID: 22972948. 2 unrelated patients both had leukodystrophy.
Inherited white matter disorders v1.124 SDHA Ivone Leong Publications for gene: SDHA were set to 22972948
Inherited white matter disorders v1.123 SDHA Ivone Leong Classified gene: SDHA as Green List (high evidence)
Inherited white matter disorders v1.123 SDHA Ivone Leong Gene: sdha has been classified as Green List (High Evidence).
Inherited white matter disorders v1.122 SDHA Ivone Leong Classified gene: SDHA as Red List (low evidence)
Inherited white matter disorders v1.122 SDHA Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association.
Inherited white matter disorders v1.122 SDHA Ivone Leong Gene: sdha has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.121 SPART Ivone Leong Classified gene: SPART as Green List (high evidence)
Inherited white matter disorders v1.121 SPART Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green. This gene is associated with a relevant disorder in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene is also recommended for Green status in the White matter disorders and cerebral calcification - narrow panel (Version 1.173).
Inherited white matter disorders v1.121 SPART Ivone Leong Gene: spart has been classified as Green List (High Evidence).
Inherited white matter disorders v1.120 SPART Ivone Leong Phenotypes for gene: SPART were changed from Troyer syndrome, MIM#275900 to Troyer syndrome, OMIM:275900
Inherited white matter disorders v1.119 SPART Ivone Leong Publications for gene: SPART were set to 27112432, 18413476, 26003402, 12134148
Inherited white matter disorders v1.118 CYP7B1 Arina Puzriakova Publications for gene: CYP7B1 were set to MIM#270800
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 v1.116 CNTNAP1 Arina Puzriakova Classified gene: CNTNAP1 as Green List (high evidence)
Inherited white matter disorders v1.116 CNTNAP1 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Green - sufficient cases of white matter disease from unrelated families to warrant a Green rating.

At least 10 unrelated families reported in literature (PMIDs: 28374019; 29511323; 29882456) . Brain imaging in all affected patients shows marked brain hypomyelination/demyelination, as well as variably reduced white matter volume and cerebral atrophy.
Inherited white matter disorders v1.116 CNTNAP1 Arina Puzriakova Gene: cntnap1 has been classified as Green List (High Evidence).
Inherited white matter disorders v1.115 CNTNAP1 Arina Puzriakova Publications for gene: CNTNAP1 were set to 29882456
Inherited white matter disorders v1.114 CNTNAP1 Arina Puzriakova Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, OMIM:618186
Inherited white matter disorders v1.113 LAMB1 Arina Puzriakova Publications for gene: LAMB1 were set to 23472759; 17525174; 25925986
Inherited white matter disorders v1.112 LAMB1 Arina Puzriakova Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, 615191 to Lissencephaly 5, OMIM:615191
Inherited white matter disorders v1.111 BOLA3 Ivone Leong Publications for gene: BOLA3 were set to 29654549; 29501406; 24334290; 21944046; 30302924; 29654549
Inherited white matter disorders v1.110 BOLA3 Ivone Leong Publications for gene: BOLA3 were set to 29654549, 29501406, 24334290, 21944046
Inherited white matter disorders v1.109 BOLA3 Ivone Leong Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, OMIM:614299
Inherited white matter disorders v1.108 BOLA3 Ivone Leong Classified gene: BOLA3 as Green List (high evidence)
Inherited white matter disorders v1.108 BOLA3 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green. This gene is associated with a relevant disorder in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association.
Inherited white matter disorders v1.108 BOLA3 Ivone Leong Gene: bola3 has been classified as Green List (High Evidence).
Inherited white matter disorders v1.107 HSPD1 Ivone Leong Classified gene: HSPD1 as Green List (high evidence)
Inherited white matter disorders v1.107 HSPD1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. The missense p.Leu47Val variant has a dominant negative effect.

This gene is also Amber with a recommendation to promote to Green on the White matter disorders and cerebral calcification - narrow panel (Version 1.127). With the following review from Zornitza Stark (Australian Genomics):

"Multiple families reported with bi-allelic variants in HSPD1 and hypomyelinating leukodystrophy. Supportive mouse model. In addition, two unrelated individuals reported with same de novo missense p.Leu47Val and leukodystrophy.
Zornitza Stark (Australian Genomics), 15 Sep 2020"
Inherited white matter disorders v1.107 HSPD1 Ivone Leong Gene: hspd1 has been classified as Green List (High Evidence).
Inherited white matter disorders v1.106 HSPD1 Ivone Leong Publications for gene: HSPD1 were set to 18571143; 28377887
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 v1.103 HSPD1 Ivone Leong Publications for gene: HSPD1 were set to
Inherited white matter disorders v1.102 RAB11B Arina Puzriakova Classified gene: RAB11B as Green List (high evidence)
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 v1.102 RAB11B Arina Puzriakova Gene: rab11b has been classified as Green List (High Evidence).
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 v1.101 RAB11B Arina Puzriakova Phenotypes for gene: RAB11B were changed from Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM#617807 to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807
Inherited white matter disorders v1.100 NAXE Arina Puzriakova Classified gene: NAXE as Green List (high evidence)
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 v1.100 NAXE Arina Puzriakova Gene: naxe has been classified as Green List (High Evidence).
Inherited white matter disorders v1.99 NAXE Arina Puzriakova Publications for gene: NAXE were set to 27616477, 27122014
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 v1.98 NAXE Arina Puzriakova Phenotypes for gene: NAXE were changed from Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186 to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186
Inherited white matter disorders v1.97 LIG3 Ivone Leong Classified gene: LIG3 as Green List (high evidence)
Inherited white matter disorders v1.97 LIG3 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green as per my previous review.
Inherited white matter disorders v1.97 LIG3 Ivone Leong Gene: lig3 has been classified as Green List (High Evidence).
Inherited white matter disorders v1.96 LIG3 Ivone Leong Tag Q2_21_rating was removed from gene: LIG3.
Inherited white matter disorders v1.96 LIG3 Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.100
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
Inherited white matter disorders v1.95 POLR3K Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.98
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
Inherited white matter disorders v1.94 VPS11 Ivone Leong Classified gene: VPS11 as Green List (high evidence)
Inherited white matter disorders v1.94 VPS11 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green. This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. This gene is also rated Green on the Genetic epilepsy syndromes (Version 2.339).

It is also on the White matter disorders and cerebral calcification - narrow panel (Version 1.69) as an Amber gene with a recommendation to be promoted to Green. The following review is present:

"Recurrent homozygous variant, p.Cys846Gly identified in more than 10 families of Ashkenazi Jewish descent. One other variant reported in another family in PMID 27473128. Functional data.
Zornitza Stark (Australian Genomics), 16 Sep 2020"

There is enough evidence to support a gene-disease association.
Inherited white matter disorders v1.94 VPS11 Ivone Leong Gene: vps11 has been classified as Green List (High Evidence).
Inherited white matter disorders v1.93 VPS11 Ivone Leong Phenotypes for gene: VPS11 were changed from Leukodystrophy, hypomyelinating, 12, MIM#616683 to Leukodystrophy, hypomyelinating, 12, OMIM:616683
Inherited white matter disorders v1.92 VPS11 Ivone Leong Publications for gene: VPS11 were set to 26307567, 27120463
Inherited white matter disorders v1.91 MTFMT Sarah Leigh Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15; 614947; 22499348; 23499752 to Combined oxidative phosphorylation deficiency 15 OMIM:614947; combined oxidative phosphorylation defect type 15 MONDO:0013987; Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248; mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631
Inherited white matter disorders v1.90 ACBD5 Arina Puzriakova Publications for gene: ACBD5 were set to 27799409, 27899449, 23105016
Inherited white matter disorders v1.89 ACBD5 Arina Puzriakova Phenotypes for gene: ACBD5 were changed from to Retinal dystrophy with leukodystrophy, OMIM:618863
Inherited white matter disorders v1.88 ACBD5 Arina Puzriakova Classified gene: ACBD5 as Green List (high evidence)
Inherited white matter disorders v1.88 ACBD5 Arina Puzriakova Gene: acbd5 has been classified as Green List (High Evidence).
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 v1.87 SCO1 Arina Puzriakova Phenotypes for gene: SCO1 were changed from Mitochondrial complex IV deficiency 220110 to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Inherited white matter disorders v1.86 TMEM106B Arina Puzriakova Phenotypes for gene: TMEM106B were changed from Leukodystrophy, hypomyelinating 16, MIM#617964 to Leukodystrophy, hypomyelinating, 16, OMIM:617964; Leukodystrophy, hypomyelinating, 16, MONDO:0054791
Inherited white matter disorders v1.85 TMEM106B Arina Puzriakova Tag missense tag was added to gene: TMEM106B.
Inherited white matter disorders v1.85 TMEM106B Arina Puzriakova Publications for gene: TMEM106B were set to 29186371, 29444210
Inherited white matter disorders v1.84 TMEM106B Arina Puzriakova Mode of pathogenicity for gene: TMEM106B was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Inherited white matter disorders v1.83 TMEM106B Arina Puzriakova Classified gene: TMEM106B as Green List (high evidence)
Inherited white matter disorders v1.83 TMEM106B Arina Puzriakova Added comment: Comment on list classification: Promoting from Red to Green - sufficient unrelated cases (6), hypomyelinating leukodystrophy is the predominant feature of the disease presentation.
Inherited white matter disorders v1.83 TMEM106B Arina Puzriakova Gene: tmem106b has been classified as Green List (High Evidence).
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 v1.82 GALNT2 Arina Puzriakova Tag for-review was removed from gene: GALNT2.
Inherited white matter disorders v1.82 EIF2AK2 Arina Puzriakova Classified gene: EIF2AK2 as Green List (high evidence)
Inherited white matter disorders v1.82 EIF2AK2 Arina Puzriakova Gene: eif2ak2 has been classified as Green List (High Evidence).
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
Inherited white matter disorders v1.80 NDUFA2 Arina Puzriakova Tag watchlist was removed from gene: NDUFA2.
Inherited white matter disorders v1.80 NDUFA2 Arina Puzriakova Deleted their comment
Inherited white matter disorders v1.80 NDUFA2 Arina Puzriakova Classified gene: NDUFA2 as Green List (high evidence)
Inherited white matter disorders v1.80 NDUFA2 Arina Puzriakova Gene: ndufa2 has been classified as Green List (High Evidence).
Inherited white matter disorders v1.79 NDUFA2 Arina Puzriakova Classified gene: NDUFA2 as Amber List (moderate evidence)
Inherited white matter disorders v1.79 NDUFA2 Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Inherited white matter disorders v1.79 NDUFA2 Arina Puzriakova Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Inherited white matter disorders v1.78 NDUFA2 Arina Puzriakova Tag watchlist tag was added to gene: NDUFA2.
Inherited white matter disorders v1.78 NDUFA2 Arina Puzriakova edited their review of gene: NDUFA2: Changed rating: GREEN
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 v1.78 GALNT2 Sarah Leigh Classified gene: GALNT2 as Green List (high evidence)
Inherited white matter disorders v1.78 GALNT2 Sarah Leigh Gene: galnt2 has been classified as Green List (High Evidence).
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
Inherited white matter disorders v1.76 SLC25A4 Sarah Leigh Added comment: Comment on mode of inheritance: At least two cases of white matter lesions have been reported with de novo variants in SLC25A4 (PMID 12112115; 27693233).
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 v1.76 SLC25A4 Sarah Leigh Publications for gene: SLC25A4 were set to 25655951; 27693233; 30013777; 12112115
Inherited white matter disorders v1.75 SLC25A4 Sarah Leigh Publications for gene: SLC25A4 were set to 25655951; 27693233; 30013777
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 v1.73 SLC25A4 Sarah Leigh Publications for gene: SLC25A4 were set to 25655951; 27693233
Inherited white matter disorders v1.72 SLC25A4 Sarah Leigh Publications for gene: SLC25A4 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_578; PMID: 27693233
Inherited white matter disorders v1.71 RARS Louise Daugherty Tag new-gene-name tag was added to gene: RARS.
Inherited white matter disorders v1.71 RARS Louise Daugherty commented on gene: RARS
Inherited white matter disorders v1.71 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Inherited white matter disorders v1.71 DARS Louise Daugherty commented on gene: DARS
Inherited white matter disorders v1.71 POLG2 Sarah Leigh Publications for gene: POLG2 were set to 25655951
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 v1.69 ISCA2 Ivone Leong Classified gene: ISCA2 as Green List (high evidence)
Inherited white matter disorders v1.69 ISCA2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green, based on evidence provided by expert reviewer and also advice from the Genomics England Clinical team.
Inherited white matter disorders v1.69 ISCA2 Ivone Leong Gene: isca2 has been classified as Green List (High Evidence).
Inherited white matter disorders v1.68 ISCA2 Ivone Leong Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, 616370
Inherited white matter disorders v1.67 ISCA2 Ivone Leong Publications for gene: ISCA2 were set to 27564080; 25558065; 25539947; 22323289
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 v1.64 SNORD118 Louise Daugherty Classified gene: SNORD118 as Green List (high evidence)
Inherited white matter disorders v1.64 SNORD118 Louise Daugherty Gene: snord118 has been classified as Green List (High Evidence).
Inherited white matter disorders v1.63 SNORD118 Louise Daugherty Classified gene: SNORD118 as Green List (high evidence)
Inherited white matter disorders v1.63 SNORD118 Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Inherited white matter disorders v1.63 SNORD118 Louise Daugherty Gene: snord118 has been classified as Green List (High Evidence).
Inherited white matter disorders v1.62 SNORD118 Louise Daugherty Phenotypes for gene: SNORD118 were changed from 614561 to 614561; Leukoencephalopathy, brain calcifications and cysts, 614561
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
Inherited white matter disorders v1.60 L2HGDH Louise Daugherty Phenotypes for gene: L2HGDH were changed from L2-Hydroxyglutaric aciduria to L-2-hydroxyglutaric aciduria, 236792
Inherited white matter disorders v1.59 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, primary, 4 to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Inherited white matter disorders v1.58 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis, 213700
Inherited white matter disorders v1.57 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL); General Leukodystrophy & Mitochondrial Leukoencephalopathy to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL); General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Inherited white matter disorders v1.56 Louise Daugherty Panel types changed to Rare Disease 100K
Inherited white matter disorders v1.55 Louise Daugherty Panel types changed to Rare Disease 100K; Component Of Super Panel
Inherited white matter disorders v1.54 ZFYVE26 Sarah Leigh Classified gene: ZFYVE26 as Red List (low evidence)
Inherited white matter disorders v1.54 ZFYVE26 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.54 ZFYVE26 Sarah Leigh Gene: zfyve26 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.53 VPS11 Sarah Leigh Classified gene: VPS11 as Red List (low evidence)
Inherited white matter disorders v1.53 VPS11 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.53 VPS11 Sarah Leigh Gene: vps11 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.52 UNC13D Sarah Leigh Classified gene: UNC13D as Red List (low evidence)
Inherited white matter disorders v1.52 UNC13D Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.52 UNC13D Sarah Leigh Gene: unc13d has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.51 TYROBP Sarah Leigh Classified gene: TYROBP as Red List (low evidence)
Inherited white matter disorders v1.51 TYROBP Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.51 TYROBP Sarah Leigh Gene: tyrobp has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.50 TMEM106B Sarah Leigh Classified gene: TMEM106B as Red List (low evidence)
Inherited white matter disorders v1.50 TMEM106B Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.50 TMEM106B Sarah Leigh Gene: tmem106b has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.49 SPG7 Sarah Leigh Classified gene: SPG7 as Red List (low evidence)
Inherited white matter disorders v1.49 SPG7 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.49 SPG7 Sarah Leigh Gene: spg7 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.48 SPG11 Sarah Leigh Classified gene: SPG11 as Red List (low evidence)
Inherited white matter disorders v1.48 SPG11 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.48 SPG11 Sarah Leigh Gene: spg11 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.47 SPART Sarah Leigh Classified gene: SPART as Red List (low evidence)
Inherited white matter disorders v1.47 SPART Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.47 SPART Sarah Leigh Gene: spart has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.46 SLC13A5 Sarah Leigh Classified gene: SLC13A5 as Red List (low evidence)
Inherited white matter disorders v1.46 SLC13A5 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.46 SLC13A5 Sarah Leigh Gene: slc13a5 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.45 SDHA Sarah Leigh Classified gene: SDHA as Red List (low evidence)
Inherited white matter disorders v1.45 SDHA Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.45 SDHA Sarah Leigh Gene: sdha has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.44 RAB11B Sarah Leigh Classified gene: RAB11B as Red List (low evidence)
Inherited white matter disorders v1.44 RAB11B Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.44 RAB11B Sarah Leigh Gene: rab11b has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.43 PRF1 Sarah Leigh Classified gene: PRF1 as Red List (low evidence)
Inherited white matter disorders v1.43 PRF1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.43 PRF1 Sarah Leigh Gene: prf1 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.42 PPT1 Sarah Leigh Classified gene: PPT1 as Red List (low evidence)
Inherited white matter disorders v1.42 PPT1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.42 PPT1 Sarah Leigh Gene: ppt1 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.41 POLR1A Sarah Leigh Classified gene: POLR1A as Red List (low evidence)
Inherited white matter disorders v1.41 POLR1A Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.41 POLR1A Sarah Leigh Gene: polr1a has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.40 PHGDH Sarah Leigh Classified gene: PHGDH as Red List (low evidence)
Inherited white matter disorders v1.40 PHGDH Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.40 PHGDH Sarah Leigh Gene: phgdh has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.39 OCRL Sarah Leigh Classified gene: OCRL as Red List (low evidence)
Inherited white matter disorders v1.39 OCRL Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.39 OCRL Sarah Leigh Gene: ocrl has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.38 NDUFA2 Sarah Leigh Classified gene: NDUFA2 as Red List (low evidence)
Inherited white matter disorders v1.38 NDUFA2 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.38 NDUFA2 Sarah Leigh Gene: ndufa2 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.37 NAXE Sarah Leigh Classified gene: NAXE as Red List (low evidence)
Inherited white matter disorders v1.37 NAXE Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.37 NAXE Sarah Leigh Gene: naxe has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.36 HMBS Sarah Leigh Classified gene: HMBS as Red List (low evidence)
Inherited white matter disorders v1.36 HMBS Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.36 HMBS Sarah Leigh Gene: hmbs has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.35 HEXA Sarah Leigh Classified gene: HEXA as Red List (low evidence)
Inherited white matter disorders v1.35 HEXA Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.35 HEXA Sarah Leigh Gene: hexa has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.34 FA2H Sarah Leigh Classified gene: FA2H as Red List (low evidence)
Inherited white matter disorders v1.34 FA2H Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.34 FA2H Sarah Leigh Gene: fa2h has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.33 ERCC2 Sarah Leigh Classified gene: ERCC2 as Red List (low evidence)
Inherited white matter disorders v1.33 ERCC2 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.33 ERCC2 Sarah Leigh Gene: ercc2 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.32 CYP7B1 Sarah Leigh Classified gene: CYP7B1 as Red List (low evidence)
Inherited white matter disorders v1.32 CYP7B1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.32 CYP7B1 Sarah Leigh Gene: cyp7b1 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.31 COL4A1 Sarah Leigh Classified gene: COL4A1 as Red List (low evidence)
Inherited white matter disorders v1.31 COL4A1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.31 COL4A1 Sarah Leigh Gene: col4a1 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.30 CNTNAP1 Sarah Leigh Classified gene: CNTNAP1 as Red List (low evidence)
Inherited white matter disorders v1.30 CNTNAP1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.30 CNTNAP1 Sarah Leigh Gene: cntnap1 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.29 BOLA3 Sarah Leigh Classified gene: BOLA3 as Red List (low evidence)
Inherited white matter disorders v1.29 BOLA3 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.29 BOLA3 Sarah Leigh Gene: bola3 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.28 BOLA3 Sarah Leigh Classified gene: BOLA3 as Red List (low evidence)
Inherited white matter disorders v1.28 BOLA3 Sarah Leigh Gene: bola3 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.27 ATP7A Sarah Leigh Classified gene: ATP7A as Red List (low evidence)
Inherited white matter disorders v1.27 ATP7A Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.27 ATP7A Sarah Leigh Gene: atp7a has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.26 ACBD5 Sarah Leigh Classified gene: ACBD5 as Red List (low evidence)
Inherited white matter disorders v1.26 ACBD5 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.26 ACBD5 Sarah Leigh Gene: acbd5 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.25 Ellen McDonagh Panel types changed to Rare Disease 100K
Inherited white matter disorders v1.24 Ellen McDonagh Panel name changed from Leukodystrophy - adult onset to Inherited white matter disorders
List of related panels changed from Inherited white matter disorders to Leukodystrophy - adult onset
Inherited white matter disorders v1.23 Ellen McDonagh Panel name changed from Inherited white matter disorders to Leukodystrophy - adult onset
List of related panels changed from to Inherited white matter disorders
Panel types changed to Rare Disease 100K; GMS Rare Disease
Inherited white matter disorders v1.22 IBA57 Louise Daugherty Classified gene: IBA57 as Green List (high evidence)
Inherited white matter disorders v1.22 IBA57 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Inherited white matter disorders v1.22 IBA57 Louise Daugherty Gene: iba57 has been classified as Green List (High Evidence).
Inherited white matter disorders v1.21 IBA57 Louise Daugherty Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 to Multiple mitochondrial dysfunctions syndrome 3, 615330
Inherited white matter disorders v1.20 IBA57 Louise Daugherty Publications for gene: IBA57 were set to 28671726, 23462291, 25971455, 28913435, 27785568
Inherited white matter disorders ATP7A Zornitza Stark Added gene to panel
Inherited white matter disorders ZFYVE26 Zornitza Stark Added gene to panel
Inherited white matter disorders VPS11 Zornitza Stark Added gene to panel
Inherited white matter disorders UNC13D Zornitza Stark Added gene to panel
Inherited white matter disorders TYROBP Zornitza Stark Added gene to panel
Inherited white matter disorders TUFM Zornitza Stark reviewed gene: TUFM
Inherited white matter disorders TUBB2B Zornitza Stark reviewed gene: TUBB2B
Inherited white matter disorders TUBA8 Zornitza Stark reviewed gene: TUBA8
Inherited white matter disorders TREM2 Zornitza Stark reviewed gene: TREM2
Inherited white matter disorders TMEM106B Zornitza Stark Added gene to panel
Inherited white matter disorders SPG7 Zornitza Stark Added gene to panel
Inherited white matter disorders SPG11 Zornitza Stark Added gene to panel
Inherited white matter disorders SPART Zornitza Stark Added gene to panel
Inherited white matter disorders SNORD118 Zornitza Stark reviewed gene: SNORD118
Inherited white matter disorders SLC13A5 Zornitza Stark Added gene to panel
Inherited white matter disorders SDHA Zornitza Stark Added gene to panel
Inherited white matter disorders RAB11B Zornitza Stark Added gene to panel
Inherited white matter disorders PRF1 Zornitza Stark Added gene to panel
Inherited white matter disorders PPT1 Zornitza Stark Added gene to panel
Inherited white matter disorders POLR1A Zornitza Stark Added gene to panel
Inherited white matter disorders PHGDH Zornitza Stark Added gene to panel
Inherited white matter disorders OCRL Zornitza Stark Added gene to panel
Inherited white matter disorders NOTCH3 Zornitza Stark reviewed gene: NOTCH3
Inherited white matter disorders NDUFA2 Zornitza Stark Added gene to panel
Inherited white matter disorders NAXE Zornitza Stark Added gene to panel
Inherited white matter disorders MRPS16 Zornitza Stark reviewed gene: MRPS16
Inherited white matter disorders MFF Zornitza Stark reviewed gene: MFF
Inherited white matter disorders JAM3 Zornitza Stark reviewed gene: JAM3
Inherited white matter disorders ISCA2 Zornitza Stark reviewed gene: ISCA2
Inherited white matter disorders IBA57 Zornitza Stark Added gene to panel
Inherited white matter disorders HTRA1 Zornitza Stark reviewed gene: HTRA1
Inherited white matter disorders HSPD1 Zornitza Stark reviewed gene: HSPD1
Inherited white matter disorders HMBS Zornitza Stark Added gene to panel
Inherited white matter disorders HEXA Zornitza Stark Added gene to panel
Inherited white matter disorders FA2H Zornitza Stark Added gene to panel
Inherited white matter disorders ERCC2 Zornitza Stark Added gene to panel
Inherited white matter disorders CYP7B1 Zornitza Stark Added gene to panel
Inherited white matter disorders COL4A1 Zornitza Stark Added gene to panel
Inherited white matter disorders CNTNAP1 Zornitza Stark Added gene to panel
Inherited white matter disorders BOLA3 Zornitza Stark Added gene to panel
Inherited white matter disorders ACBD5 Zornitza Stark Added gene to panel
Inherited white matter disorders ABCD1 Ellen McDonagh edited their review of ABCD1
Inherited white matter disorders NDUFAF3 Sarah Leigh edited their review of NDUFAF3
Inherited white matter disorders NDUFAF3 Sarah Leigh classified NDUFAF3 as Green List (high evidence)
Inherited white matter disorders NDUFAF3 Sarah Leigh Added gene to panel
Inherited white matter disorders PYCR2 Helen Brittain marked PYCR2 as ready
Inherited white matter disorders PYCR2 Helen Brittain classified PYCR2 as Green List (high evidence)
Inherited white matter disorders PYCR2 Helen Brittain Added gene to panel
Inherited white matter disorders CIC Sarah Leigh classified CIC as Green List (high evidence)
Inherited white matter disorders CIC Sarah Leigh Added gene to panel
Inherited white matter disorders NKX6-2 Sarah Leigh classified NKX6-2 as green
Inherited white matter disorders NKX6-2 Sarah Leigh added NKX6-2 to panel
Inherited white matter disorders NKX6-2 Sarah Leigh reviewed NKX6-2
Inherited white matter disorders LAMB1 Ellen McDonagh classified LAMB1 as green
Inherited white matter disorders LAMB1 Ellen McDonagh commented on LAMB1
Inherited white matter disorders MFF Sarah Leigh added MFF to panel
Inherited white matter disorders MFF Sarah Leigh reviewed MFF
Inherited white matter disorders DPYD Sarah Leigh classified DPYD as green
Inherited white matter disorders DPYD Sarah Leigh commented on DPYD
Inherited white matter disorders DPYD Sarah Leigh added DPYD to panel
Inherited white matter disorders DPYD Sarah Leigh reviewed DPYD
Inherited white matter disorders SNORD118 Ellen McDonagh commented on SNORD118
Inherited white matter disorders SNORD118 Richard Scott added SNORD118 to panel
Inherited white matter disorders SNORD118 Richard Scott reviewed SNORD118
Inherited white matter disorders C10orf2 Louise Daugherty commented on C10orf2
Inherited white matter disorders ADCK3 Louise Daugherty commented on ADCK3
Inherited white matter disorders Ellen McDonagh promoted panel to version 1
Inherited white matter disorders ISCA2 Ellen McDonagh added ISCA2 to panel
Inherited white matter disorders ISCA2 Ellen McDonagh reviewed ISCA2
Inherited white matter disorders MTFMT Ellen McDonagh classified MTFMT as green
Inherited white matter disorders MTFMT Ellen McDonagh added MTFMT to panel
Inherited white matter disorders MTFMT Ellen McDonagh reviewed MTFMT
Inherited white matter disorders LYRM7 Ellen McDonagh classified LYRM7 as green
Inherited white matter disorders LYRM7 Ellen McDonagh added LYRM7 to panel
Inherited white matter disorders LYRM7 Ellen McDonagh reviewed LYRM7
Inherited white matter disorders TUFM Ellen Thomas classified TUFM as amber
Inherited white matter disorders TUFM Ellen Thomas commented on TUFM
Inherited white matter disorders TUBA1A Ellen Thomas classified TUBA1A as red
Inherited white matter disorders TUBA1A Ellen Thomas commented on TUBA1A
Inherited white matter disorders TACO1 Ellen Thomas marked TACO1 as ready
Inherited white matter disorders TACO1 Ellen Thomas classified TACO1 as green
Inherited white matter disorders SLC25A4 Ellen Thomas marked SLC25A4 as ready
Inherited white matter disorders SLC25A4 Ellen Thomas classified SLC25A4 as green
Inherited white matter disorders SLC25A4 Ellen Thomas commented on SLC25A4
Inherited white matter disorders RELN Ellen Thomas marked RELN as ready
Inherited white matter disorders RELN Ellen Thomas classified RELN as red
Inherited white matter disorders RELN Ellen Thomas commented on RELN
Inherited white matter disorders RARS Ellen Thomas marked RARS as ready
Inherited white matter disorders RARS Ellen Thomas classified RARS as green
Inherited white matter disorders PEX19 Ellen Thomas classified PEX19 as amber
Inherited white matter disorders PEX19 Ellen Thomas commented on PEX19
Inherited white matter disorders PEX14 Ellen Thomas classified PEX14 as amber
Inherited white matter disorders PEX14 Ellen Thomas commented on PEX14
Inherited white matter disorders PAFAH1B1 Ellen Thomas marked PAFAH1B1 as ready
Inherited white matter disorders PAFAH1B1 Ellen Thomas classified PAFAH1B1 as green
Inherited white matter disorders PAFAH1B1 Ellen Thomas commented on PAFAH1B1
Inherited white matter disorders NUBPL Ellen Thomas marked NUBPL as ready
Inherited white matter disorders NUBPL Ellen Thomas classified NUBPL as green
Inherited white matter disorders NDE1 Ellen Thomas marked NDE1 as ready
Inherited white matter disorders NDE1 Ellen Thomas classified NDE1 as red
Inherited white matter disorders NDE1 Ellen Thomas commented on NDE1
Inherited white matter disorders MRPS16 Ellen Thomas marked MRPS16 as ready
Inherited white matter disorders MRPS16 Ellen Thomas classified MRPS16 as amber
Inherited white matter disorders MRPS16 Ellen Thomas commented on MRPS16
Inherited white matter disorders MPZ Ellen Thomas marked MPZ as ready
Inherited white matter disorders MPZ Ellen Thomas classified MPZ as red
Inherited white matter disorders MPZ Ellen Thomas commented on MPZ
Inherited white matter disorders MPLKIP Ellen Thomas marked MPLKIP as ready
Inherited white matter disorders MPLKIP Ellen Thomas classified MPLKIP as green
Inherited white matter disorders MEF2C Ellen Thomas marked MEF2C as ready
Inherited white matter disorders MEF2C Ellen Thomas classified MEF2C as green
Inherited white matter disorders L2HGDH Ellen Thomas marked L2HGDH as ready
Inherited white matter disorders L2HGDH Ellen Thomas classified L2HGDH as green
Inherited white matter disorders FLVCR2 Ellen Thomas marked FLVCR2 as ready
Inherited white matter disorders FLVCR2 Ellen Thomas classified FLVCR2 as green
Inherited white matter disorders DCX Ellen Thomas marked DCX as ready
Inherited white matter disorders DCX Ellen Thomas classified DCX as red
Inherited white matter disorders DCX Ellen Thomas commented on DCX
Inherited white matter disorders D2HGDH Ellen Thomas marked D2HGDH as ready
Inherited white matter disorders D2HGDH Ellen Thomas classified D2HGDH as green
Inherited white matter disorders COQ9 Ellen Thomas marked COQ9 as ready
Inherited white matter disorders COQ9 Ellen Thomas classified COQ9 as amber
Inherited white matter disorders COQ9 Ellen Thomas commented on COQ9
Inherited white matter disorders BCAP31 Ellen Thomas marked BCAP31 as ready
Inherited white matter disorders BCAP31 Ellen Thomas classified BCAP31 as green
Inherited white matter disorders ATPAF2 Ellen Thomas marked ATPAF2 as ready
Inherited white matter disorders ATPAF2 Ellen Thomas classified ATPAF2 as amber
Inherited white matter disorders ATPAF2 Ellen Thomas commented on ATPAF2
Inherited white matter disorders ARX Ellen Thomas marked ARX as ready
Inherited white matter disorders ARX Ellen Thomas classified ARX as red
Inherited white matter disorders ARX Ellen Thomas commented on ARX
Inherited white matter disorders AIMP1 Ellen Thomas marked AIMP1 as ready
Inherited white matter disorders AIMP1 Ellen Thomas classified AIMP1 as green
Inherited white matter disorders GJA1 Ellen Thomas marked GJA1 as ready
Inherited white matter disorders GJA1 Ellen Thomas classified GJA1 as green
Inherited white matter disorders GJA1 Ellen Thomas commented on GJA1
Inherited white matter disorders MCOLN1 Sarah Leigh added MCOLN1 to panel
Inherited white matter disorders MCOLN1 Sarah Leigh reviewed MCOLN1
Inherited white matter disorders FOLR1 Sarah Leigh added FOLR1 to panel
Inherited white matter disorders FOLR1 Sarah Leigh reviewed FOLR1
Inherited white matter disorders GJA1 Sarah Leigh edited their review of GJA1
Inherited white matter disorders GJA1 Sarah Leigh commented on GJA1
Inherited white matter disorders GJB1 Sarah Leigh added GJB1 to panel
Inherited white matter disorders GJB1 Sarah Leigh reviewed GJB1
Inherited white matter disorders ADCK3 Ellen McDonagh commented on ADCK3
Inherited white matter disorders ADCK3 Ellen McDonagh marked ADCK3 as ready
Inherited white matter disorders ADCK3 Ellen McDonagh classified ADCK3 as green
Inherited white matter disorders ADCK3 Ellen McDonagh added ADCK3 to panel
Inherited white matter disorders ADCK3 Ellen McDonagh reviewed ADCK3
Inherited white matter disorders MPLKIP Ellen McDonagh classified MPLKIP as amber
Inherited white matter disorders MPLKIP Ellen McDonagh added MPLKIP to panel
Inherited white matter disorders MPLKIP Ellen McDonagh reviewed MPLKIP
Inherited white matter disorders BCAP31 Ellen McDonagh classified BCAP31 as amber
Inherited white matter disorders BCAP31 Ellen McDonagh commented on BCAP31
Inherited white matter disorders L2HGDH Ellen McDonagh classified L2HGDH as amber
Inherited white matter disorders L2HGDH Ellen McDonagh added L2HGDH to panel
Inherited white matter disorders L2HGDH Ellen McDonagh reviewed L2HGDH
Inherited white matter disorders D2HGDH Ellen McDonagh classified D2HGDH as amber
Inherited white matter disorders D2HGDH Ellen McDonagh added D2HGDH to panel
Inherited white matter disorders D2HGDH Ellen McDonagh reviewed D2HGDH
Inherited white matter disorders GJA1 Ellen McDonagh classified GJA1 as amber
Inherited white matter disorders SDHD Sarah Leigh classified SDHD as red
Inherited white matter disorders SDHD Sarah Leigh classified SDHD as red
Inherited white matter disorders RARS Ellen McDonagh commented on RARS
Inherited white matter disorders RARS Ellen McDonagh classified RARS as amber
Inherited white matter disorders PEX19 Ellen McDonagh marked PEX19 as ready
Inherited white matter disorders PEX19 Ellen McDonagh classified PEX19 as amber
Inherited white matter disorders PEX14 Ellen McDonagh marked PEX14 as ready
Inherited white matter disorders PEX14 Ellen McDonagh classified PEX14 as amber
Inherited white matter disorders MPZ Ellen McDonagh classified MPZ as amber
Inherited white matter disorders MPZ Ellen McDonagh commented on MPZ
Inherited white matter disorders MEF2C Ellen McDonagh classified MEF2C as amber
Inherited white matter disorders MEF2C Ellen McDonagh commented on MEF2C
Inherited white matter disorders COX15 Ellen McDonagh marked COX15 as ready
Inherited white matter disorders COX15 Ellen McDonagh classified COX15 as green
Inherited white matter disorders ARX Ellen McDonagh commented on ARX
Inherited white matter disorders ARX Ellen McDonagh classified ARX as amber
Inherited white matter disorders AIMP1 Ellen McDonagh classified AIMP1 as amber
Inherited white matter disorders AIMP1 Ellen McDonagh classified AIMP1 as amber
Inherited white matter disorders AIMP1 Ellen McDonagh commented on AIMP1
Inherited white matter disorders SDHD Sarah Leigh added SDHD to panel
Inherited white matter disorders SDHD Sarah Leigh reviewed SDHD
Inherited white matter disorders AARS2 Ellen McDonagh marked AARS2 as ready
Inherited white matter disorders AARS2 Ellen McDonagh classified AARS2 as green
Inherited white matter disorders MRPS16 Ellen McDonagh classified MRPS16 as amber
Inherited white matter disorders TUBA1A Ellen McDonagh classified TUBA1A as amber
Inherited white matter disorders TUBA1A Ellen McDonagh commented on TUBA1A
Inherited white matter disorders RELN Ellen McDonagh classified RELN as amber
Inherited white matter disorders RELN Ellen McDonagh classified RELN as green
Inherited white matter disorders RELN Ellen McDonagh commented on RELN
Inherited white matter disorders PEX2 Ellen McDonagh marked PEX2 as ready
Inherited white matter disorders PAFAH1B1 Ellen McDonagh classified PAFAH1B1 as amber
Inherited white matter disorders PAFAH1B1 Ellen McDonagh commented on PAFAH1B1
Inherited white matter disorders NDE1 Ellen McDonagh classified NDE1 as amber
Inherited white matter disorders NDE1 Ellen McDonagh commented on NDE1
Inherited white matter disorders HEPACAM Ellen McDonagh marked HEPACAM as ready
Inherited white matter disorders FLVCR2 Ellen McDonagh classified FLVCR2 as amber
Inherited white matter disorders FLVCR2 Ellen McDonagh commented on FLVCR2
Inherited white matter disorders DCX Ellen McDonagh classified DCX as amber
Inherited white matter disorders DCX Ellen McDonagh commented on DCX
Inherited white matter disorders COX10 Ellen McDonagh marked COX10 as ready
Inherited white matter disorders TYMP Ellen McDonagh marked TYMP as ready
Inherited white matter disorders TYMP Ellen McDonagh classified TYMP as green
Inherited white matter disorders TYMP Ellen McDonagh commented on TYMP
Inherited white matter disorders TUFM Ellen McDonagh classified TUFM as amber
Inherited white matter disorders TUFM Ellen McDonagh commented on TUFM
Inherited white matter disorders TACO1 Ellen McDonagh classified TACO1 as amber
Inherited white matter disorders TACO1 Ellen McDonagh commented on TACO1
Inherited white matter disorders SURF1 Ellen McDonagh marked SURF1 as ready
Inherited white matter disorders SURF1 Ellen McDonagh classified SURF1 as green
Inherited white matter disorders SURF1 Ellen McDonagh commented on SURF1
Inherited white matter disorders SUMF1 Ellen McDonagh marked SUMF1 as ready
Inherited white matter disorders SUMF1 Ellen McDonagh classified SUMF1 as green
Inherited white matter disorders SUMF1 Ellen McDonagh commented on SUMF1
Inherited white matter disorders SUMF1 Ellen McDonagh classified SUMF1 as grey
Inherited white matter disorders SUCLA2 Ellen McDonagh marked SUCLA2 as ready
Inherited white matter disorders SUCLA2 Ellen McDonagh classified SUCLA2 as green
Inherited white matter disorders SUCLA2 Ellen McDonagh commented on SUCLA2
Inherited white matter disorders SLC25A4 Ellen McDonagh classified SLC25A4 as amber
Inherited white matter disorders SLC25A4 Ellen McDonagh commented on SLC25A4
Inherited white matter disorders SLC25A4 Ellen McDonagh classified SLC25A4 as grey
Inherited white matter disorders SLC17A5 Ellen McDonagh marked SLC17A5 as ready
Inherited white matter disorders SLC17A5 Ellen McDonagh classified SLC17A5 as green
Inherited white matter disorders SLC17A5 Ellen McDonagh commented on SLC17A5
Inherited white matter disorders SLC16A2 Ellen McDonagh marked SLC16A2 as ready
Inherited white matter disorders SLC16A2 Ellen McDonagh classified SLC16A2 as green
Inherited white matter disorders SLC16A2 Ellen McDonagh commented on SLC16A2
Inherited white matter disorders SDHB Ellen McDonagh marked SDHB as ready
Inherited white matter disorders SDHB Ellen McDonagh classified SDHB as green
Inherited white matter disorders SDHB Ellen McDonagh classified SDHB as amber
Inherited white matter disorders SDHB Ellen McDonagh commented on SDHB
Inherited white matter disorders SDHAF1 Sarah Leigh marked SDHAF1 as ready
Inherited white matter disorders SDHAF1 Sarah Leigh commented on SDHAF1
Inherited white matter disorders SDHAF1 Sarah Leigh classified SDHAF1 as green
Inherited white matter disorders SCP2 Sarah Leigh commented on SCP2
Inherited white matter disorders SCP2 Sarah Leigh marked SCP2 as ready
Inherited white matter disorders SCP2 Sarah Leigh classified SCP2 as green
Inherited white matter disorders SCO2 Sarah Leigh marked SCO2 as ready
Inherited white matter disorders SCO2 Sarah Leigh commented on SCO2
Inherited white matter disorders SCO2 Sarah Leigh classified SCO2 as green
Inherited white matter disorders SCO1 Sarah Leigh marked SCO1 as ready
Inherited white matter disorders SCO1 Sarah Leigh commented on SCO1
Inherited white matter disorders SCO1 Sarah Leigh classified SCO1 as green
Inherited white matter disorders RRM2B Sarah Leigh marked RRM2B as ready
Inherited white matter disorders RRM2B Sarah Leigh classified RRM2B as green
Inherited white matter disorders RRM2B Sarah Leigh commented on RRM2B
Inherited white matter disorders RNASET2 Sarah Leigh marked RNASET2 as ready
Inherited white matter disorders RNASET2 Sarah Leigh commented on RNASET2
Inherited white matter disorders RNASET2 Sarah Leigh classified RNASET2 as green
Inherited white matter disorders RARS Sarah Leigh commented on RARS
Inherited white matter disorders RARS Sarah Leigh classified RARS as amber
Inherited white matter disorders POLG2 Sarah Leigh marked POLG2 as ready
Inherited white matter disorders POLG2 Sarah Leigh commented on POLG2
Inherited white matter disorders POLG2 Sarah Leigh classified POLG2 as green
Inherited white matter disorders POLG Sarah Leigh marked POLG as ready
Inherited white matter disorders POLG Sarah Leigh commented on POLG
Inherited white matter disorders POLG Sarah Leigh classified POLG as green
Inherited white matter disorders PEX5 Sarah Leigh classified PEX5 as green
Inherited white matter disorders PEX5 Sarah Leigh marked PEX5 as ready
Inherited white matter disorders PEX5 Sarah Leigh commented on PEX5
Inherited white matter disorders PEX3 Sarah Leigh marked PEX3 as ready
Inherited white matter disorders PEX3 Sarah Leigh commented on PEX3
Inherited white matter disorders PEX3 Sarah Leigh classified PEX3 as green
Inherited white matter disorders PEX26 Sarah Leigh marked PEX26 as ready
Inherited white matter disorders PEX26 Sarah Leigh commented on PEX26
Inherited white matter disorders PEX26 Sarah Leigh classified PEX26 as green
Inherited white matter disorders PEX2 Sarah Leigh commented on PEX2
Inherited white matter disorders PEX2 Sarah Leigh classified PEX2 as green
Inherited white matter disorders PEX6 Sarah Leigh marked PEX6 as ready
Inherited white matter disorders PEX6 Sarah Leigh marked PEX6 as ready
Inherited white matter disorders PEX6 Sarah Leigh commented on PEX6
Inherited white matter disorders PEX6 Sarah Leigh classified PEX6 as green
Inherited white matter disorders PEX16 Ellen McDonagh marked PEX16 as ready
Inherited white matter disorders PEX16 Ellen McDonagh classified PEX16 as green
Inherited white matter disorders PEX16 Ellen McDonagh commented on PEX16
Inherited white matter disorders PEX19 Ellen McDonagh classified PEX19 as amber
Inherited white matter disorders PEX19 Ellen McDonagh classified PEX19 as grey
Inherited white matter disorders PEX19 Ellen McDonagh commented on PEX19
Inherited white matter disorders PEX14 Ellen McDonagh classified PEX14 as amber
Inherited white matter disorders PEX14 Ellen McDonagh classified PEX14 as red
Inherited white matter disorders PEX14 Ellen McDonagh commented on PEX14
Inherited white matter disorders PEX13 Ellen McDonagh marked PEX13 as ready
Inherited white matter disorders PEX13 Ellen McDonagh classified PEX13 as green
Inherited white matter disorders PEX13 Ellen McDonagh classified PEX13 as grey
Inherited white matter disorders PEX13 Ellen McDonagh commented on PEX13
Inherited white matter disorders PEX12 Ellen McDonagh marked PEX12 as ready
Inherited white matter disorders PEX12 Ellen McDonagh classified PEX12 as green
Inherited white matter disorders PEX12 Ellen McDonagh commented on PEX12
Inherited white matter disorders PEX10 Ellen McDonagh marked PEX10 as ready
Inherited white matter disorders PEX10 Ellen McDonagh classified PEX10 as green
Inherited white matter disorders PEX10 Ellen McDonagh commented on PEX10
Inherited white matter disorders PEX1 Ellen McDonagh marked PEX1 as ready
Inherited white matter disorders PEX1 Ellen McDonagh classified PEX1 as green
Inherited white matter disorders PEX1 Ellen McDonagh classified PEX1 as grey
Inherited white matter disorders PEX1 Ellen McDonagh commented on PEX1
Inherited white matter disorders NUBPL Ellen McDonagh classified NUBPL as amber
Inherited white matter disorders NUBPL Ellen McDonagh commented on NUBPL
Inherited white matter disorders NDUFV1 Ellen McDonagh classified NDUFV1 as green
Inherited white matter disorders NDUFV1 Ellen McDonagh classified NDUFV1 as amber
Inherited white matter disorders NDUFV1 Ellen McDonagh classified NDUFV1 as green
Inherited white matter disorders NDUFV1 Ellen McDonagh commented on NDUFV1
Inherited white matter disorders NDUFS8 Ellen McDonagh marked NDUFS8 as ready
Inherited white matter disorders NDUFS8 Ellen McDonagh classified NDUFS8 as green
Inherited white matter disorders NDUFS8 Ellen McDonagh commented on NDUFS8
Inherited white matter disorders NDUFS7 Ellen McDonagh marked NDUFS7 as ready
Inherited white matter disorders NDUFS7 Ellen McDonagh classified NDUFS7 as green
Inherited white matter disorders NDUFS7 Ellen McDonagh commented on NDUFS7
Inherited white matter disorders NDUFS4 Ellen McDonagh marked NDUFS4 as ready
Inherited white matter disorders NDUFS4 Ellen McDonagh classified NDUFS4 as green
Inherited white matter disorders NDUFS4 Ellen McDonagh commented on NDUFS4
Inherited white matter disorders NDUFS2 Ellen McDonagh marked NDUFS2 as ready
Inherited white matter disorders NDUFS2 Ellen McDonagh classified NDUFS2 as green
Inherited white matter disorders NDUFS2 Ellen McDonagh commented on NDUFS2
Inherited white matter disorders NDUFS1 Ellen McDonagh marked NDUFS1 as ready
Inherited white matter disorders NDUFS1 Ellen McDonagh classified NDUFS1 as green
Inherited white matter disorders NDUFS1 Ellen McDonagh commented on NDUFS1
Inherited white matter disorders NDUFS1 Ellen McDonagh classified NDUFS1 as grey
Inherited white matter disorders NDUFAF1 Ellen McDonagh marked NDUFAF1 as ready
Inherited white matter disorders NDUFAF1 Ellen McDonagh classified NDUFAF1 as green
Inherited white matter disorders NDUFAF1 Ellen McDonagh classified NDUFAF1 as amber
Inherited white matter disorders NDUFAF1 Ellen McDonagh classified NDUFAF1 as grey
Inherited white matter disorders NDUFAF1 Ellen McDonagh commented on NDUFAF1
Inherited white matter disorders MRPS16 Ellen McDonagh classified MRPS16 as red
Inherited white matter disorders MRPS16 Ellen McDonagh commented on MRPS16
Inherited white matter disorders MLC1 Ellen McDonagh marked MLC1 as ready
Inherited white matter disorders MLC1 Ellen McDonagh classified MLC1 as green
Inherited white matter disorders MLC1 Ellen McDonagh commented on MLC1
Inherited white matter disorders IFIH1 Ellen McDonagh marked IFIH1 as ready
Inherited white matter disorders IFIH1 Ellen McDonagh classified IFIH1 as green
Inherited white matter disorders IFIH1 Ellen McDonagh commented on IFIH1
Inherited white matter disorders HSD17B4 Ellen McDonagh marked HSD17B4 as ready
Inherited white matter disorders HSD17B4 Ellen McDonagh classified HSD17B4 as green
Inherited white matter disorders HSD17B4 Ellen McDonagh commented on HSD17B4
Inherited white matter disorders HEPACAM Ellen McDonagh classified HEPACAM as green
Inherited white matter disorders HEPACAM Ellen McDonagh commented on HEPACAM
Inherited white matter disorders GFM1 Ellen McDonagh marked GFM1 as ready
Inherited white matter disorders GFM1 Ellen McDonagh classified GFM1 as green
Inherited white matter disorders GFM1 Ellen McDonagh commented on GFM1
Inherited white matter disorders GBE1 Ellen McDonagh marked GBE1 as ready
Inherited white matter disorders GBE1 Ellen McDonagh classified GBE1 as green
Inherited white matter disorders GBE1 Ellen McDonagh classified GBE1 as grey
Inherited white matter disorders GBE1 Ellen McDonagh commented on GBE1
Inherited white matter disorders FUCA1 Ellen McDonagh marked FUCA1 as ready
Inherited white matter disorders FUCA1 Ellen McDonagh classified FUCA1 as green
Inherited white matter disorders FUCA1 Ellen McDonagh classified FUCA1 as green
Inherited white matter disorders FUCA1 Ellen McDonagh commented on FUCA1
Inherited white matter disorders ETFDH Ellen McDonagh marked ETFDH as ready
Inherited white matter disorders ETFDH Ellen McDonagh classified ETFDH as green
Inherited white matter disorders ETFDH Ellen McDonagh commented on ETFDH
Inherited white matter disorders ERCC8 Ellen McDonagh marked ERCC8 as ready
Inherited white matter disorders ERCC8 Ellen McDonagh classified ERCC8 as green
Inherited white matter disorders ERCC8 Ellen McDonagh commented on ERCC8
Inherited white matter disorders ERCC6 Ellen McDonagh marked ERCC6 as ready
Inherited white matter disorders ERCC6 Ellen McDonagh classified ERCC6 as green
Inherited white matter disorders ERCC6 Ellen McDonagh commented on ERCC6
Inherited white matter disorders EARS2 Ellen McDonagh classified EARS2 as green
Inherited white matter disorders EARS2 Ellen McDonagh marked EARS2 as ready
Inherited white matter disorders EARS2 Ellen McDonagh classified EARS2 as grey
Inherited white matter disorders EARS2 Ellen McDonagh commented on EARS2
Inherited white matter disorders DGUOK Ellen McDonagh marked DGUOK as ready
Inherited white matter disorders DGUOK Ellen McDonagh classified DGUOK as green
Inherited white matter disorders DGUOK Ellen McDonagh commented on DGUOK
Inherited white matter disorders DARS2 Ellen McDonagh marked DARS2 as ready
Inherited white matter disorders DARS2 Ellen McDonagh classified DARS2 as green
Inherited white matter disorders DARS2 Ellen McDonagh classified DARS2 as grey
Inherited white matter disorders DARS2 Ellen McDonagh commented on DARS2
Inherited white matter disorders COX15 Ellen McDonagh classified COX15 as amber
Inherited white matter disorders COX15 Ellen McDonagh classified COX15 as amber
Inherited white matter disorders COX15 Ellen McDonagh classified COX15 as green
Inherited white matter disorders COX15 Ellen McDonagh commented on COX15
Inherited white matter disorders COX10 Ellen McDonagh classified COX10 as green
Inherited white matter disorders COX10 Ellen McDonagh commented on COX10
Inherited white matter disorders COQ9 Ellen McDonagh classified COQ9 as amber
Inherited white matter disorders COQ9 Ellen McDonagh commented on COQ9
Inherited white matter disorders COQ2 Ellen McDonagh marked COQ2 as ready
Inherited white matter disorders COQ2 Ellen McDonagh classified COQ2 as green
Inherited white matter disorders COQ2 Ellen McDonagh commented on COQ2
Inherited white matter disorders C10orf2 Ellen McDonagh marked C10orf2 as ready
Inherited white matter disorders C10orf2 Ellen McDonagh classified C10orf2 as green
Inherited white matter disorders C10orf2 Ellen McDonagh classified C10orf2 as red
Inherited white matter disorders C10orf2 Ellen McDonagh added C10orf2 to panel
Inherited white matter disorders C10orf2 Ellen McDonagh reviewed C10orf2
Inherited white matter disorders BCS1L Ellen McDonagh marked BCS1L as ready
Inherited white matter disorders BCS1L Ellen McDonagh classified BCS1L as green
Inherited white matter disorders BCS1L Ellen McDonagh commented on BCS1L
Inherited white matter disorders ATPAF2 Ellen McDonagh classified ATPAF2 as amber
Inherited white matter disorders ATPAF2 Ellen McDonagh classified ATPAF2 as amber
Inherited white matter disorders ATPAF2 Ellen McDonagh commented on ATPAF2
Inherited white matter disorders ALDH3A2 Ellen McDonagh marked ALDH3A2 as ready
Inherited white matter disorders ALDH3A2 Ellen McDonagh classified ALDH3A2 as green
Inherited white matter disorders ALDH3A2 Ellen McDonagh classified ALDH3A2 as grey
Inherited white matter disorders ALDH3A2 Ellen McDonagh commented on ALDH3A2
Inherited white matter disorders AARS2 Ellen McDonagh classified AARS2 as amber
Inherited white matter disorders AARS2 Ellen McDonagh classified AARS2 as amber
Inherited white matter disorders AARS2 Ellen McDonagh commented on AARS2
Inherited white matter disorders EIF2B5 Ellen McDonagh classified EIF2B5 as green
Inherited white matter disorders EIF2B5 Ellen McDonagh commented on EIF2B5
Inherited white matter disorders EIF2B4 Ellen McDonagh classified EIF2B4 as green
Inherited white matter disorders EIF2B4 Ellen McDonagh commented on EIF2B4
Inherited white matter disorders EIF2B3 Ellen McDonagh classified EIF2B3 as green
Inherited white matter disorders EIF2B3 Ellen McDonagh commented on EIF2B3
Inherited white matter disorders EIF2B2 Ellen McDonagh classified EIF2B2 as green
Inherited white matter disorders EIF2B2 Ellen McDonagh commented on EIF2B2
Inherited white matter disorders EIF2B1 Ellen McDonagh classified EIF2B1 as green
Inherited white matter disorders EIF2B1 Ellen McDonagh commented on EIF2B1
Inherited white matter disorders CLCN2 Ellen McDonagh marked CLCN2 as ready
Inherited white matter disorders CLCN2 Ellen McDonagh classified CLCN2 as green
Inherited white matter disorders CLCN2 Ellen McDonagh commented on CLCN2
Inherited white matter disorders CYP27A1 Ellen McDonagh marked CYP27A1 as ready
Inherited white matter disorders CYP27A1 Ellen McDonagh classified CYP27A1 as green
Inherited white matter disorders CYP27A1 Ellen McDonagh commented on CYP27A1
Inherited white matter disorders ASPA Ellen McDonagh marked ASPA as ready
Inherited white matter disorders ASPA Ellen McDonagh classified ASPA as green
Inherited white matter disorders ASPA Ellen McDonagh commented on ASPA
Inherited white matter disorders LMNB1 Ellen McDonagh classified LMNB1 as green
Inherited white matter disorders LMNB1 Ellen McDonagh commented on LMNB1
Inherited white matter disorders GFAP Ellen McDonagh marked GFAP as ready
Inherited white matter disorders GFAP Ellen McDonagh classified GFAP as green
Inherited white matter disorders GFAP Ellen McDonagh commented on GFAP
Inherited white matter disorders SAMHD1 Ellen McDonagh marked SAMHD1 as ready
Inherited white matter disorders SAMHD1 Ellen McDonagh classified SAMHD1 as green
Inherited white matter disorders SAMHD1 Ellen McDonagh commented on SAMHD1
Inherited white matter disorders TREX1 Ellen McDonagh classified TREX1 as green
Inherited white matter disorders TREX1 Ellen McDonagh commented on TREX1
Inherited white matter disorders RNASEH2C Ellen McDonagh marked RNASEH2C as ready
Inherited white matter disorders RNASEH2C Ellen McDonagh commented on RNASEH2C
Inherited white matter disorders RNASEH2C Ellen McDonagh classified RNASEH2C as green
Inherited white matter disorders RNASEH2B Ellen McDonagh marked RNASEH2B as ready
Inherited white matter disorders RNASEH2B Ellen McDonagh commented on RNASEH2B
Inherited white matter disorders RNASEH2B Ellen McDonagh classified RNASEH2B as green
Inherited white matter disorders RNASEH2A Ellen McDonagh marked RNASEH2A as ready
Inherited white matter disorders RNASEH2A Ellen McDonagh classified RNASEH2A as green
Inherited white matter disorders RNASEH2A Ellen McDonagh commented on RNASEH2A
Inherited white matter disorders ADAR Ellen McDonagh marked ADAR as ready
Inherited white matter disorders ADAR Ellen McDonagh classified ADAR as green
Inherited white matter disorders ADAR Ellen McDonagh commented on ADAR
Inherited white matter disorders CSF1R Ellen McDonagh marked CSF1R as ready
Inherited white matter disorders CSF1R Ellen McDonagh classified CSF1R as green
Inherited white matter disorders CSF1R Ellen McDonagh commented on CSF1R
Inherited white matter disorders ABCD1 Ellen McDonagh classified ABCD1 as green
Inherited white matter disorders ABCD1 Ellen McDonagh commented on ABCD1
Inherited white matter disorders SOX10 Ellen McDonagh marked SOX10 as ready
Inherited white matter disorders SOX10 Ellen McDonagh classified SOX10 as green
Inherited white matter disorders SOX10 Ellen McDonagh commented on SOX10
Inherited white matter disorders GJC2 Ellen McDonagh classified GJC2 as green
Inherited white matter disorders GJC2 Ellen McDonagh commented on GJC2
Inherited white matter disorders PLP1 Ellen McDonagh classified PLP1 as green
Inherited white matter disorders FAM126A Ellen McDonagh classified FAM126A as green
Inherited white matter disorders FAM126A Ellen McDonagh commented on FAM126A
Inherited white matter disorders TUBB4A Ellen McDonagh classified TUBB4A as green
Inherited white matter disorders TUBB4A Ellen McDonagh commented on TUBB4A
Inherited white matter disorders POLR3B Ellen McDonagh marked POLR3B as ready
Inherited white matter disorders POLR3B Ellen McDonagh classified POLR3B as green
Inherited white matter disorders POLR3B Ellen McDonagh commented on POLR3B
Inherited white matter disorders POLR3A Ellen McDonagh marked POLR3A as ready
Inherited white matter disorders POLR3A Ellen McDonagh classified POLR3A as green
Inherited white matter disorders POLR3A Ellen McDonagh classified POLR3A as green
Inherited white matter disorders POLR3A Ellen McDonagh commented on POLR3A
Inherited white matter disorders TYMP Ian Berry edited their review of TYMP
Inherited white matter disorders TYMP Ian Berry reviewed TYMP
Inherited white matter disorders TUFM Ian Berry edited their review of TUFM
Inherited white matter disorders TUFM Ian Berry reviewed TUFM
Inherited white matter disorders TUBB4A Ian Berry edited their review of TUBB4A
Inherited white matter disorders TUBB4A Ian Berry reviewed TUBB4A
Inherited white matter disorders TREX1 Ian Berry edited their review of TREX1
Inherited white matter disorders TREX1 Ian Berry reviewed TREX1
Inherited white matter disorders TACO1 Ian Berry edited their review of TACO1
Inherited white matter disorders TACO1 Ian Berry reviewed TACO1
Inherited white matter disorders SURF1 Ian Berry edited their review of SURF1
Inherited white matter disorders SURF1 Ian Berry reviewed SURF1
Inherited white matter disorders SUMF1 Ian Berry reviewed SUMF1
Inherited white matter disorders SUCLA2 Ian Berry edited their review of SUCLA2
Inherited white matter disorders SUCLA2 Ian Berry reviewed SUCLA2
Inherited white matter disorders SOX10 Ian Berry reviewed SOX10
Inherited white matter disorders SLC25A4 Ian Berry edited their review of SLC25A4
Inherited white matter disorders SLC25A4 Ian Berry reviewed SLC25A4
Inherited white matter disorders SLC25A12 Ian Berry edited their review of SLC25A12
Inherited white matter disorders SLC25A12 Ian Berry reviewed SLC25A12
Inherited white matter disorders SLC17A5 Ian Berry reviewed SLC17A5
Inherited white matter disorders SLC16A2 Ian Berry edited their review of SLC16A2
Inherited white matter disorders SLC16A2 Ian Berry reviewed SLC16A2
Inherited white matter disorders SDHB Ian Berry edited their review of SDHB
Inherited white matter disorders SDHB Ian Berry reviewed SDHB
Inherited white matter disorders SDHAF1 Ian Berry edited their review of SDHAF1
Inherited white matter disorders SDHAF1 Ian Berry reviewed SDHAF1
Inherited white matter disorders SCP2 Ian Berry edited their review of SCP2
Inherited white matter disorders SCP2 Ian Berry reviewed SCP2
Inherited white matter disorders SCO2 Ian Berry edited their review of SCO2
Inherited white matter disorders SCO2 Ian Berry reviewed SCO2
Inherited white matter disorders SCO1 Ian Berry edited their review of SCO1
Inherited white matter disorders SCO1 Ian Berry reviewed SCO1
Inherited white matter disorders SAMHD1 Ian Berry edited their review of SAMHD1
Inherited white matter disorders SAMHD1 Ian Berry reviewed SAMHD1
Inherited white matter disorders RRM2B Ian Berry edited their review of RRM2B
Inherited white matter disorders RRM2B Ian Berry reviewed RRM2B
Inherited white matter disorders RNASET2 Ian Berry reviewed RNASET2
Inherited white matter disorders RNASEH2C Ian Berry edited their review of RNASEH2C
Inherited white matter disorders RNASEH2C Ian Berry reviewed RNASEH2C
Inherited white matter disorders RNASEH2B Ian Berry edited their review of RNASEH2B
Inherited white matter disorders RNASEH2B Ian Berry reviewed RNASEH2B
Inherited white matter disorders RNASEH2A Ian Berry edited their review of RNASEH2A
Inherited white matter disorders RNASEH2A Ian Berry reviewed RNASEH2A
Inherited white matter disorders RARS Ian Berry edited their review of RARS
Inherited white matter disorders RARS Ian Berry reviewed RARS
Inherited white matter disorders PSAP Ian Berry reviewed PSAP
Inherited white matter disorders POLR3B Ian Berry edited their review of POLR3B
Inherited white matter disorders POLR3B Ian Berry reviewed POLR3B
Inherited white matter disorders POLR3A Ian Berry edited their review of POLR3A
Inherited white matter disorders POLR3A Ian Berry reviewed POLR3A
Inherited white matter disorders POLR1C Ian Berry edited their review of POLR1C
Inherited white matter disorders POLR1C Ian Berry reviewed POLR1C
Inherited white matter disorders POLG2 Ian Berry edited their review of POLG2
Inherited white matter disorders POLG2 Ian Berry reviewed POLG2
Inherited white matter disorders POLG Ian Berry edited their review of POLG
Inherited white matter disorders POLG Ian Berry reviewed POLG
Inherited white matter disorders PLP1 Ian Berry edited their review of PLP1
Inherited white matter disorders PLP1 Ian Berry reviewed PLP1
Inherited white matter disorders PEX6 Ian Berry edited their review of PEX6
Inherited white matter disorders PEX6 Ian Berry reviewed PEX6
Inherited white matter disorders PEX5 Ian Berry edited their review of PEX5
Inherited white matter disorders PEX5 Ian Berry reviewed PEX5
Inherited white matter disorders PEX3 Ian Berry edited their review of PEX3
Inherited white matter disorders PEX3 Ian Berry reviewed PEX3
Inherited white matter disorders PEX26 Ian Berry edited their review of PEX26
Inherited white matter disorders PEX26 Ian Berry reviewed PEX26
Inherited white matter disorders PEX2 Ian Berry edited their review of PEX2
Inherited white matter disorders PEX2 Ian Berry reviewed PEX2
Inherited white matter disorders PEX19 Ian Berry reviewed PEX19
Inherited white matter disorders PEX16 Ian Berry edited their review of PEX16
Inherited white matter disorders PEX16 Ian Berry reviewed PEX16
Inherited white matter disorders PEX14 Ian Berry reviewed PEX14
Inherited white matter disorders PEX13 Ian Berry edited their review of PEX13
Inherited white matter disorders PEX13 Ian Berry reviewed PEX13
Inherited white matter disorders PEX12 Ian Berry edited their review of PEX12
Inherited white matter disorders PEX12 Ian Berry reviewed PEX12
Inherited white matter disorders PEX10 Ian Berry edited their review of PEX10
Inherited white matter disorders PEX10 Ian Berry reviewed PEX10
Inherited white matter disorders PEX1 Ian Berry edited their review of PEX1
Inherited white matter disorders PEX1 Ian Berry reviewed PEX1
Inherited white matter disorders NUBPL Ian Berry edited their review of NUBPL
Inherited white matter disorders NUBPL Ian Berry reviewed NUBPL
Inherited white matter disorders NDUFV1 Ian Berry edited their review of NDUFV1
Inherited white matter disorders NDUFV1 Ian Berry reviewed NDUFV1
Inherited white matter disorders NDUFS8 Ian Berry edited their review of NDUFS8
Inherited white matter disorders NDUFS8 Ian Berry reviewed NDUFS8
Inherited white matter disorders NDUFS7 Ian Berry edited their review of NDUFS7
Inherited white matter disorders NDUFS7 Ian Berry reviewed NDUFS7
Inherited white matter disorders NDUFS4 Ian Berry edited their review of NDUFS4
Inherited white matter disorders NDUFS4 Ian Berry reviewed NDUFS4
Inherited white matter disorders NDUFS2 Ian Berry edited their review of NDUFS2
Inherited white matter disorders NDUFS2 Ian Berry reviewed NDUFS2
Inherited white matter disorders NDUFS1 Ian Berry edited their review of NDUFS1
Inherited white matter disorders NDUFS1 Ian Berry reviewed NDUFS1
Inherited white matter disorders NDUFAF1 Ian Berry edited their review of NDUFAF1
Inherited white matter disorders NDUFAF1 Ian Berry reviewed NDUFAF1
Inherited white matter disorders MRPS16 Ian Berry edited their review of MRPS16
Inherited white matter disorders MRPS16 Ian Berry reviewed MRPS16
Inherited white matter disorders MLC1 Ian Berry reviewed MLC1
Inherited white matter disorders LMNB1 Ian Berry reviewed LMNB1
Inherited white matter disorders IFIH1 Ian Berry edited their review of IFIH1
Inherited white matter disorders IFIH1 Ian Berry reviewed IFIH1
Inherited white matter disorders HSD17B4 Ian Berry edited their review of HSD17B4
Inherited white matter disorders HSD17B4 Ian Berry reviewed HSD17B4
Inherited white matter disorders HEPACAM Ian Berry reviewed HEPACAM
Inherited white matter disorders GJC2 Ian Berry edited their review of GJC2
Inherited white matter disorders GJC2 Ian Berry reviewed GJC2
Inherited white matter disorders GFM1 Ian Berry edited their review of GFM1
Inherited white matter disorders GFM1 Ian Berry reviewed GFM1
Inherited white matter disorders GFAP Ian Berry reviewed GFAP
Inherited white matter disorders GBE1 Ian Berry reviewed GBE1
Inherited white matter disorders GALC Ian Berry reviewed GALC
Inherited white matter disorders FUCA1 Ian Berry reviewed FUCA1
Inherited white matter disorders FAM126A Ian Berry edited their review of FAM126A
Inherited white matter disorders FAM126A Ian Berry reviewed FAM126A
Inherited white matter disorders ETFDH Ian Berry edited their review of ETFDH
Inherited white matter disorders ETFDH Ian Berry reviewed ETFDH
Inherited white matter disorders ERCC8 Ian Berry edited their review of ERCC8
Inherited white matter disorders ERCC8 Ian Berry reviewed ERCC8
Inherited white matter disorders ERCC6 Ian Berry edited their review of ERCC6
Inherited white matter disorders ERCC6 Ian Berry reviewed ERCC6
Inherited white matter disorders EIF2B5 Ian Berry edited their review of EIF2B5
Inherited white matter disorders EIF2B5 Ian Berry reviewed EIF2B5
Inherited white matter disorders EIF2B4 Ian Berry edited their review of EIF2B4
Inherited white matter disorders EIF2B4 Ian Berry reviewed EIF2B4
Inherited white matter disorders EIF2B3 Ian Berry edited their review of EIF2B3
Inherited white matter disorders EIF2B3 Ian Berry reviewed EIF2B3
Inherited white matter disorders EIF2B2 Ian Berry edited their review of EIF2B2
Inherited white matter disorders EIF2B2 Ian Berry reviewed EIF2B2
Inherited white matter disorders EIF2B1 Ian Berry edited their review of EIF2B1
Inherited white matter disorders EIF2B1 Ian Berry reviewed EIF2B1
Inherited white matter disorders EARS2 Ian Berry reviewed EARS2
Inherited white matter disorders DGUOK Ian Berry edited their review of DGUOK
Inherited white matter disorders DGUOK Ian Berry reviewed DGUOK
Inherited white matter disorders DARS2 Ian Berry reviewed DARS2
Inherited white matter disorders DARS Ian Berry edited their review of DARS
Inherited white matter disorders DARS Ian Berry reviewed DARS
Inherited white matter disorders CYP27A1 Ian Berry reviewed CYP27A1
Inherited white matter disorders CSF1R Ian Berry reviewed CSF1R
Inherited white matter disorders COX15 Ian Berry edited their review of COX15
Inherited white matter disorders COX15 Ian Berry reviewed COX15
Inherited white matter disorders COX10 Ian Berry edited their review of COX10
Inherited white matter disorders COX10 Ian Berry reviewed COX10
Inherited white matter disorders COQ9 Ian Berry edited their review of COQ9
Inherited white matter disorders COQ9 Ian Berry reviewed COQ9
Inherited white matter disorders COQ2 Ian Berry edited their review of COQ2
Inherited white matter disorders COQ2 Ian Berry reviewed COQ2
Inherited white matter disorders CLCN2 Ian Berry reviewed CLCN2
Inherited white matter disorders C10ORF2 Ian Berry edited their review of C10ORF2*
Inherited white matter disorders C10ORF2 Ian Berry reviewed C10ORF2*
Inherited white matter disorders BCS1L Ian Berry edited their review of BCS1L
Inherited white matter disorders BCS1L Ian Berry reviewed BCS1L
Inherited white matter disorders ATPAF2 Ian Berry edited their review of ATPAF2
Inherited white matter disorders ATPAF2 Ian Berry reviewed ATPAF2
Inherited white matter disorders ASPA Ian Berry reviewed ASPA
Inherited white matter disorders ARSA Ian Berry reviewed ARSA
Inherited white matter disorders ALDH3A2 Ian Berry reviewed ALDH3A2
Inherited white matter disorders AIMP1 Ian Berry edited their review of AIMP1
Inherited white matter disorders AIMP1 Ian Berry reviewed AIMP1
Inherited white matter disorders COQ8A Ian Berry edited their review of COQ8A*
Inherited white matter disorders COQ8A Ian Berry reviewed COQ8A*
Inherited white matter disorders ADAR Ian Berry edited their review of ADAR
Inherited white matter disorders ADAR Ian Berry reviewed ADAR
Inherited white matter disorders ACOX1 Ian Berry edited their review of ACOX1
Inherited white matter disorders ACOX1 Ian Berry reviewed ACOX1
Inherited white matter disorders ABCD1 Ian Berry edited their review of ABCD1
Inherited white matter disorders ABCD1 Ian Berry edited their review of ABCD1
Inherited white matter disorders ABCD1 Ian Berry reviewed ABCD1
Inherited white matter disorders AARS2 Ian Berry reviewed AARS2