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Adult onset leukodystrophy v6.8 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Adult onset leukodystrophy v6.7 ANXA11 Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: ANXA11.
Adult onset leukodystrophy v6.7 ANXA11 Achchuthan Shanmugasundram Classified gene: ANXA11 as Amber List (moderate evidence)
Adult onset leukodystrophy v6.7 ANXA11 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated families reported with ANXA11 variants and white matter abnormalities - however, all three families were identified with the same variant. What matter abnormalities were not reported in successive studies. Hence, this gene should be rated amber with the current evidence.
Adult onset leukodystrophy v6.7 ANXA11 Achchuthan Shanmugasundram Gene: anxa11 has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v6.6 ANXA11 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #619733). OMIM was accessed on 30 September 2025.
Adult onset leukodystrophy v6.6 ANXA11 Achchuthan Shanmugasundram Phenotypes for gene: ANXA11 were changed from Inclusion body myopathy and brain white matter abnormalities, OMIM:619733; inclusion body myopathy and brain white matter abnormalities, MONDO:0850514 to Inclusion body myopathy and brain white matter abnormalities, OMIM:619733; inclusion body myopathy and brain white matter abnormalities, MONDO:0850514
Adult onset leukodystrophy v6.5 ANXA11 Achchuthan Shanmugasundram gene: ANXA11 was added
gene: ANXA11 was added to Adult onset leukodystrophy. Sources: Literature
Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANXA11 were set to 34048612
Phenotypes for gene: ANXA11 were set to Inclusion body myopathy and brain white matter abnormalities, OMIM:619733; inclusion body myopathy and brain white matter abnormalities, MONDO:0850514
Review for gene: ANXA11 was set to AMBER
Added comment: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy. Brain imaging from patients showed white matter abnormalities using diffusion tensor imaging. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene, suggesting it could be founder variant.

Although there were patients reported with variants affecting the Asp40 amino acid residue of ANXA11 gene and presenting with myopathy phenotype in successive studies (PMIDs: 36134701; 36651622; 40730020), there were no mentions of white matter abnormalities reported for these patients in these publications.
Sources: Literature
Adult onset leukodystrophy v6.4 NOTCH3 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available for the association of biallelic cysteine-involving missense variants of NOTCH3 gene with early-adult-onset leukodystrophy. Hence, the MOI can be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.
Adult onset leukodystrophy v6.4 NOTCH3 Achchuthan Shanmugasundram Mode of inheritance for gene: NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v6.3 NOTCH3 Achchuthan Shanmugasundram Publications for gene: NOTCH3 were set to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v6.2 NOTCH3 Achchuthan Shanmugasundram Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310; neurodevelopmental disorder, MONDO:0700092; leukodystrophy, MONDO:0019046
Adult onset leukodystrophy v6.1 NOTCH3 Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: NOTCH3.
Adult onset leukodystrophy v6.1 NOTCH3 Achchuthan Shanmugasundram edited their review of gene: NOTCH3: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, leukodystrophy, MONDO:0019046
Adult onset leukodystrophy v6.1 NOTCH3 Achchuthan Shanmugasundram reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39191170; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v6.1 Arina Puzriakova Panel version 6.0 has been signed off on 2025-04-30
Adult onset leukodystrophy v6.0 Arina Puzriakova promoted panel to version 6.0
Adult onset leukodystrophy v5.8 CST3 Achchuthan Shanmugasundram Tag Q2_25_ NHS_review tag was added to gene: CST3.
Adult onset leukodystrophy v5.8 CST3 Achchuthan Shanmugasundram Classified gene: CST3 as Amber List (moderate evidence)
Adult onset leukodystrophy v5.8 CST3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are ten unrelated families reported with a novel adult-onset leukodystrophy disorder. Hence, this gene can be promoted to green rating in the next GMS update.
Adult onset leukodystrophy v5.8 CST3 Achchuthan Shanmugasundram Gene: cst3 has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v5.7 CST3 Achchuthan Shanmugasundram Tag founder-effect was removed from gene: CST3.
Tag Q2_25_ promote_green tag was added to gene: CST3.
Adult onset leukodystrophy v5.7 CST3 Achchuthan Shanmugasundram Phenotypes for gene: CST3 were changed from Cerebral amyloid angiopathy, OMIM:105150; ACys amyloidosis, MONDO:0007098 to leukodystrophy, MONDO:0019046; Cerebral amyloid angiopathy, OMIM:105150; ACys amyloidosis, MONDO:0007098
Adult onset leukodystrophy v5.6 CST3 Achchuthan Shanmugasundram Publications for gene: CST3 were set to 2900981; 3495457; 1352269; 3673496; 7482672; 8108423
Adult onset leukodystrophy v5.5 CST3 Achchuthan Shanmugasundram Mode of inheritance for gene: CST3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset leukodystrophy v5.4 CST3 Achchuthan Shanmugasundram reviewed gene: CST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38489591, 38729262; Phenotypes: leukodystrophy, MONDO:0019046; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset leukodystrophy v5.4 CST3 David Lynch reviewed gene: CST3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38489591, PMID: 38729262; Phenotypes: leukodystrophy without amyloid angiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset leukodystrophy v5.4 ABCD1 Arina Puzriakova Tag Q3_24_NHS_review was removed from gene: ABCD1.
Tag Q3_24_MOI was removed from gene: ABCD1.
Adult onset leukodystrophy v5.4 ABCD1 Arina Puzriakova reviewed gene: ABCD1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset leukodystrophy v5.3 ABCD1 Arina Puzriakova Mode of inheritance for gene ABCD1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset leukodystrophy v5.2 ABCD1 Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: ABCD1.
Tag Q3_24_MOI tag was added to gene: ABCD1.
Adult onset leukodystrophy v5.2 ABCD1 Sarah Leigh reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset leukodystrophy v5.2 ABCD1 Sarah Leigh Phenotypes for gene: ABCD1 were changed from Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100 to Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, OMIM:300100
Adult onset leukodystrophy v5.1 ABCD1 Lucy Jackson reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Adult onset leukodystrophy v5.1 Eleanor Williams Panel version 5.0 has been signed off on 2024-08-07
Adult onset leukodystrophy v5.0 Eleanor Williams promoted panel to version 5.0
Adult onset leukodystrophy v4.7 RNF216 Sarah Leigh Publications for gene: RNF216 were set to 27159321; 25527826; 28334938; 20301621; 24357685; 26250479; 25841028
Adult onset leukodystrophy v4.6 RNF216 Sarah Leigh Publications for gene: RNF216 were set to 27159321; 25527826; 28334938; 20301621; 24357685; 26250479
Adult onset leukodystrophy v4.5 COL4A2 Sarah Leigh Added comment: Comment on publications: https://link.springer.com/article/10.1007/s00415-016-8280-3 is PMID: 27624120
Adult onset leukodystrophy v4.5 COL4A2 Sarah Leigh Publications for gene: COL4A2 were set to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v4.4 AARS Sarah Leigh Added comment: Comment on publications: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10142409/ is PMID: 37106376. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6880494/ is PMID: 31775912
Adult onset leukodystrophy v4.4 AARS Sarah Leigh Publications for gene: AARS were set to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v4.3 SNORD118 Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORD118.
Adult onset leukodystrophy v4.3 RNASET2 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: RNASET2.
Adult onset leukodystrophy v4.3 RNASET2 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v4.3 POLR1C Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: POLR1C.
Adult onset leukodystrophy v4.3 POLR1C Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v4.3 MARS Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: MARS.
Adult onset leukodystrophy v4.3 MARS Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v4.3 COL4A2 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: COL4A2.
Adult onset leukodystrophy v4.3 AARS Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: AARS.
Adult onset leukodystrophy v4.3 OCRL Achchuthan Shanmugasundram Tag Q4_23_demote_amber was removed from gene: OCRL.
Tag Q4_23_expert_review was removed from gene: OCRL.
Adult onset leukodystrophy v4.3 OCRL Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v4.3 HMGCL Achchuthan Shanmugasundram Tag Q4_23_demote_amber was removed from gene: HMGCL.
Tag Q4_23_expert_review was removed from gene: HMGCL.
Adult onset leukodystrophy v4.3 HMGCL Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v4.3 RPS6KA3 Achchuthan Shanmugasundram Tag Q3_23_expert_review was removed from gene: RPS6KA3.
Tag Q3_23_demote_red was removed from gene: RPS6KA3.
Adult onset leukodystrophy v4.3 RPS6KA3 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toredfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v4.3 RNF216 Achchuthan Shanmugasundram Tag Q3_23_expert_review was removed from gene: RNF216.
Tag Q3_23_demote_amber was removed from gene: RNF216.
Adult onset leukodystrophy v4.3 GCDH Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: GCDH.
Tag Q3_23_MOI was removed from gene: GCDH.
Adult onset leukodystrophy v4.3 GCDH Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to greenand the mode of inheritance set to'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v4.3 RPS6KA3 Achchuthan Shanmugasundram reviewed gene: RPS6KA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v4.3 RNF216 Achchuthan Shanmugasundram commented on gene: RNF216
Adult onset leukodystrophy v4.3 RNASET2 Achchuthan Shanmugasundram reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v4.3 POLR1C Achchuthan Shanmugasundram reviewed gene: POLR1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v4.3 OCRL Achchuthan Shanmugasundram reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v4.3 MARS Achchuthan Shanmugasundram reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v4.3 HMGCL Achchuthan Shanmugasundram reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v4.3 COL4A2 Achchuthan Shanmugasundram commented on gene: COL4A2
Adult onset leukodystrophy v4.3 AARS Achchuthan Shanmugasundram commented on gene: AARS
Adult onset leukodystrophy v4.3 GCDH Achchuthan Shanmugasundram reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v4.2 RPS6KA3 Achchuthan Shanmugasundram Source Expert Review Red was added to RPS6KA3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset leukodystrophy v4.2 RNASET2 Achchuthan Shanmugasundram Source Expert Review Amber was added to RNASET2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset leukodystrophy v4.2 POLR1C Achchuthan Shanmugasundram Source Expert Review Amber was added to POLR1C.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset leukodystrophy v4.2 OCRL Achchuthan Shanmugasundram Source Expert Review Amber was added to OCRL.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset leukodystrophy v4.2 MARS Achchuthan Shanmugasundram Source Expert Review Amber was added to MARS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset leukodystrophy v4.2 HMGCL Achchuthan Shanmugasundram Source Expert Review Amber was added to HMGCL.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset leukodystrophy v4.2 GCDH Achchuthan Shanmugasundram Source NHS GMS was added to GCDH.
Source Expert Review Green was added to GCDH.
Mode of inheritance for gene GCDH was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v4.1 Eleanor Williams Panel version 4.0 has been signed off on 2024-05-01
Adult onset leukodystrophy v4.0 Eleanor Williams promoted panel to version 4.0
Adult onset leukodystrophy v3.24 RPS6KA3 Achchuthan Shanmugasundram Tag Q3_23_expert_review tag was added to gene: RPS6KA3.
Adult onset leukodystrophy v3.24 RNF216 Achchuthan Shanmugasundram Tag Q3_23_expert_review tag was added to gene: RNF216.
Adult onset leukodystrophy v3.24 NOTCH3 Arina Puzriakova Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
Adult onset leukodystrophy v3.23 RNASET2 Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: RNASET2.
Tag Q4_21_rating was removed from gene: RNASET2.
Adult onset leukodystrophy v3.23 POLR1C Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: POLR1C.
Tag Q4_21_rating was removed from gene: POLR1C.
Adult onset leukodystrophy v3.23 MARS Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: MARS.
Tag Q4_21_rating was removed from gene: MARS.
Tag Q4_21_phenotype was removed from gene: MARS.
Adult onset leukodystrophy v3.23 COL4A2 Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: COL4A2.
Tag Q4_21_rating was removed from gene: COL4A2.
Tag Q4_21_phenotype was removed from gene: COL4A2.
Adult onset leukodystrophy v3.23 AARS Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: AARS.
Tag Q4_21_rating was removed from gene: AARS.
Adult onset leukodystrophy v3.21 OCRL Sarah Leigh Tag Q4_23_demote_amber tag was added to gene: OCRL.
Tag Q4_23_expert_review tag was added to gene: OCRL.
Adult onset leukodystrophy v3.21 OCRL Sarah Leigh reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: None; Publications: 16722554; Phenotypes: ; Mode of inheritance: None
Adult onset leukodystrophy v3.21 OCRL Sarah Leigh Publications for gene: OCRL were set to 27159321; 25527826; 28334938; 20301621; 24357685; 33517444
Adult onset leukodystrophy v3.20 HMGCL Sarah Leigh Tag Q4_23_demote_amber tag was added to gene: HMGCL.
Tag Q4_23_expert_review tag was added to gene: HMGCL.
Adult onset leukodystrophy v3.20 HMGCL Sarah Leigh reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset leukodystrophy v3.20 HMGCL Sarah Leigh Publications for gene: HMGCL were set to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v3.19 HMGCL Sarah Leigh Phenotypes for gene: HMGCL were changed from HMG-CoA lyase deficiency, 246450 to HMG-CoA lyase deficiency, OMIM:246450; 3-hydroxy-3-methylglutaric aciduria, MONDO:0009520
Adult onset leukodystrophy v3.18 SPG21 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: SPG21.
Adult onset leukodystrophy v3.18 ADAR Achchuthan Shanmugasundram Tag Q4_22_demote_red was removed from gene: ADAR.
Adult onset leukodystrophy v3.18 SPG21 Sarah Leigh edited their review of gene: SPG21: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v3.18 ADAR Sarah Leigh reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v3.17 SPG21 Achchuthan Shanmugasundram Source Expert Review Green was added to SPG21.
Source NHS GMS was added to SPG21.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v3.17 ADAR Achchuthan Shanmugasundram Source Expert Review Red was added to ADAR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset leukodystrophy v3.16 GCDH Sarah Leigh Tag Q3_23_promote_green tag was added to gene: GCDH.
Tag Q3_23_MOI tag was added to gene: GCDH.
Adult onset leukodystrophy v3.16 GCDH Sarah Leigh edited their review of gene: GCDH: Added comment: GCDH variants are associated with Glutaricaciduria, type I (OMIM:231670) and as definitive Gen2Phen gene for the same condition. Although OMIM:231670 usually manifests in infancy, four unrelated cases, including white matter involvement, have been reported with an age of onset of 16 to 35 years (15985591;12473778; https://doi.org/10.1002/mds.10442).; Changed rating: GREEN; Changed publications to: 15985591, 12473778, https://doi.org/10.1002/mds.10442; Changed phenotypes to: Glutaricaciduria, type I, OMIM:231670; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v3.16 GCDH Sarah Leigh Added comment: Comment on publications: Publication not in PUBMED: https://doi.org/10.1002/mds.10442 "Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl"
Emilio Fernández-Álvarez MD, PhD, Angeles García-Cazorla MD, Anna Sans MD, Cristina Boix PhD, María Antonia Vilaseca PhD, Christianne Busquets PhD, Antonia Ribes PhD
First published: 01 April 2003
Adult onset leukodystrophy v3.16 GCDH Sarah Leigh Publications for gene: GCDH were set to 15985591
Adult onset leukodystrophy v3.15 GCDH Sarah Leigh Phenotypes for gene: GCDH were changed from Glutaric aciduria, type I 231670 to Glutaricaciduria, type I, OMIM:231670; glutaryl-CoA dehydrogenase deficiency, MONDO:0009281
Adult onset leukodystrophy v3.14 GCDH Sarah Leigh Classified gene: GCDH as Amber List (moderate evidence)
Adult onset leukodystrophy v3.14 GCDH Sarah Leigh Gene: gcdh has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v3.13 RNF216 Sarah Leigh Classified gene: RNF216 as Green List (high evidence)
Adult onset leukodystrophy v3.13 RNF216 Sarah Leigh Added comment: Comment on list classification: There is not enough evidence for this gene to be rated GREEN on this panel at the next major review.
Adult onset leukodystrophy v3.13 RNF216 Sarah Leigh Gene: rnf216 has been classified as Green List (High Evidence).
Adult onset leukodystrophy v3.12 RNF216 Sarah Leigh Tag Q3_23_demote_amber tag was added to gene: RNF216.
Adult onset leukodystrophy v3.12 RNF216 Sarah Leigh changed review comment from: RNF216 variants are associated with Cerebellar ataxia and hypogonadotropic hypogonadism (OMIM:212840), previously known as Gordon Holmes syndrome (GDHS). No phenotype was associated with RNF216 in Gen2Phen.
At least six variants have been reported in four unrelated cases of OMIM:212840. Three of these variants, in four individuals from two unrelated families, have been associated with a variant of GDHS. The variant GDHS includes Huntingtons-like features including white matter lesions (PMID: 16691578).; to: RNF216 variants are associated with Cerebellar ataxia and hypogonadotropic hypogonadism (OMIM:212840), previously known as Gordon Holmes syndrome (GDHS). No phenotype was associated with RNF216 in Gen2Phen.
At least six variants have been reported in four unrelated cases of OMIM:212840. Three of these variants, in four individuals from two unrelated families, have been associated with a variant of GDHS. The variant GDHS includes Huntingtons-like features including white matter lesions (PMID: 25841028).
Adult onset leukodystrophy v3.12 RNF216 Sarah Leigh reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: None; Publications: 25841028; Phenotypes: ; Mode of inheritance: None
Adult onset leukodystrophy v3.12 RNF216 Sarah Leigh Phenotypes for gene: RNF216 were changed from Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 to Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840
Adult onset leukodystrophy v3.11 RNF216 Sarah Leigh Publications for gene: RNF216 were set to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v3.10 RPS6KA3 Sarah Leigh Classified gene: RPS6KA3 as Green List (high evidence)
Adult onset leukodystrophy v3.10 RPS6KA3 Sarah Leigh Added comment: Comment on list classification: There is not enough evidence for this gene to be rated GREEN at the next major review.
Adult onset leukodystrophy v3.10 RPS6KA3 Sarah Leigh Gene: rps6ka3 has been classified as Green List (High Evidence).
Adult onset leukodystrophy v3.9 RPS6KA3 Sarah Leigh Tag Q3_23_demote_red tag was added to gene: RPS6KA3.
Adult onset leukodystrophy v3.9 RPS6KA3 Sarah Leigh edited their review of gene: RPS6KA3: Changed publications to: 16691578
Adult onset leukodystrophy v3.9 RPS6KA3 Sarah Leigh reviewed gene: RPS6KA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset leukodystrophy v3.9 RPS6KA3 Arina Puzriakova Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome, 303600 to Coffin-Lowry syndrome, OMIM:303600
Adult onset leukodystrophy v3.8 NPC1 Achchuthan Shanmugasundram Tag watchlist tag was added to gene: NPC1.
Adult onset leukodystrophy v3.8 NPC1 Achchuthan Shanmugasundram edited their review of gene: NPC1: Changed rating: AMBER
Adult onset leukodystrophy v3.8 NPC1 Achchuthan Shanmugasundram Classified gene: NPC1 as Amber List (moderate evidence)
Adult onset leukodystrophy v3.8 NPC1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases associating NPC1 with white matter abnormalities in adulthood. However, there are several other cases with childhood-onset and functional evidence from animal models. This gene should be rated AMBER and 'watchlist' tag should be added.
Adult onset leukodystrophy v3.8 NPC1 Achchuthan Shanmugasundram Gene: npc1 has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v3.7 NPC1 Achchuthan Shanmugasundram Publications for gene: NPC1 were set to 26910362; 29406968
Adult onset leukodystrophy v3.6 NPC1 Achchuthan Shanmugasundram reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26910362, 27900365, 29406968, 31254056; Phenotypes: Niemann-Pick disease, type C1, OMIM:257220, Niemann-Pick disease, type D, OMIM:257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v3.6 MAN2B1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: MAN2B1.
Adult onset leukodystrophy v3.6 MAN2B1 Achchuthan Shanmugasundram Classified gene: MAN2B1 as Red List (low evidence)
Adult onset leukodystrophy v3.6 MAN2B1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is only one family with white matter abnormalities confirmed in adulthood. All other reported cases with white matter abnormalities detected by MRI are during childhood/ adolescence.
Adult onset leukodystrophy v3.6 MAN2B1 Achchuthan Shanmugasundram Gene: man2b1 has been classified as Red List (Low Evidence).
Adult onset leukodystrophy v3.5 MAN2B1 Achchuthan Shanmugasundram Deleted their comment
Adult onset leukodystrophy v3.5 MAN2B1 Achchuthan Shanmugasundram edited their review of gene: MAN2B1: Changed rating: RED
Adult onset leukodystrophy v3.5 MAN2B1 Achchuthan Shanmugasundram changed review comment from: PMID:15534274 reported that MRI from three adult siblings with alpha-mannosidosis (AM) showed cerebellar atrophy and periventricular white matter changes.

PMID:26212233 reported that five of ten patients who have had MRI from the cohort of 34 patients with AM had occipital white matter signal abnormalities.

PMID:33317989 reported cerebral white matter signal abnormalities in 11 (85%) out of 13 untreated AM patients. In addition, cortical atrophy (62%), corpus callosum thinning (23%) and enlargement of perivascular spaces in white matter (38%) was observed.

This gene has been associated with alpha-mannosidosis in both OMIM (MIM #248500) and Gene2Phenotype ('Definitive' rating).; to: PMID:15534274 reported that MRI from three adult siblings with alpha-mannosidosis (AM) showed cerebellar atrophy and periventricular white matter changes.

PMID:26212233 reported that five of ten patients who have had MRI from the cohort of 34 patients with AM had occipital white matter signal abnormalities. However the age of these patients ranged from 7 to 17 years.

PMID:33317989 reported cerebral white matter signal abnormalities in 11 (85%) out of 13 untreated AM patients. In addition, cortical atrophy (62%), corpus callosum thinning (23%) and enlargement of perivascular spaces in white matter (38%) was observed. The age of onset (first symptom) of AM ranged from neonatal period to 4 years. However, four patients were currently adults with MRI taken during their adulthood.

This gene has been associated with alpha-mannosidosis in both OMIM (MIM #248500) and Gene2Phenotype ('Definitive' rating).
Adult onset leukodystrophy v3.5 MAN2B1 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: MAN2B1.
Adult onset leukodystrophy v3.5 MAN2B1 Achchuthan Shanmugasundram Classified gene: MAN2B1 as Amber List (moderate evidence)
Adult onset leukodystrophy v3.5 MAN2B1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to Green at the next major update.
Adult onset leukodystrophy v3.5 MAN2B1 Achchuthan Shanmugasundram Gene: man2b1 has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v3.4 MAN2B1 Achchuthan Shanmugasundram Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II, MIM# 248500 to Mannosidosis, alpha-, types I and II, OMIM:248500
Adult onset leukodystrophy v3.3 MAN2B1 Achchuthan Shanmugasundram Publications for gene: MAN2B1 were set to
Adult onset leukodystrophy v3.2 MAN2B1 Achchuthan Shanmugasundram reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15534274, 26212233, 33317989; Phenotypes: Mannosidosis, alpha-, types I and II, OMIM:248500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v3.2 SPG21 Sarah Leigh edited their review of gene: SPG21: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants have been reported in three unrelated cases (PMIDs: 14564668, 24451228, 28752238), together with a supportive mouse model (PMID: 26978163).; Changed rating: GREEN
Adult onset leukodystrophy v3.2 SPG21 Sarah Leigh Tag Q2_23_promote_green tag was added to gene: SPG21.
Adult onset leukodystrophy v3.2 SPG21 Sarah Leigh Classified gene: SPG21 as Amber List (moderate evidence)
Adult onset leukodystrophy v3.2 SPG21 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset leukodystrophy v3.2 SPG21 Sarah Leigh Gene: spg21 has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v3.1 Catherine Snow Panel version 3.0 has been signed off on 2023-03-22
Adult onset leukodystrophy v3.0 Catherine Snow promoted panel to version 3.0
Adult onset leukodystrophy v2.48 Arina Puzriakova List of related panels changed from Adult onset leukodystrophy; White matter disorders - adult onset; R62 to White matter disorders - adult onset; R62
Adult onset leukodystrophy v2.47 Eleanor Williams Panel name changed from White matter disorders - adult onset to Adult onset leukodystrophy
List of related panels changed from R62; Adult onset leukodystrophy to Adult onset leukodystrophy; White matter disorders - adult onset; R62
Adult onset leukodystrophy v2.46 TTR Sarah Leigh Tag Q1_23_promote_green was removed from gene: TTR.
Tag Q1_23_NHS_review was removed from gene: TTR.
Adult onset leukodystrophy v2.46 PSEN1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: PSEN1.
Tag Q1_23_NHS_review was removed from gene: PSEN1.
Adult onset leukodystrophy v2.46 PRNP Sarah Leigh Tag Q1_23_promote_green was removed from gene: PRNP.
Tag Q1_23_NHS_review was removed from gene: PRNP.
Adult onset leukodystrophy v2.46 ITM2B Sarah Leigh Tag Q1_23_promote_green was removed from gene: ITM2B.
Tag Q1_23_NHS_review was removed from gene: ITM2B.
Adult onset leukodystrophy v2.46 GSN Sarah Leigh Tag Q1_23_promote_green was removed from gene: GSN.
Tag Q1_23_NHS_review was removed from gene: GSN.
Adult onset leukodystrophy v2.46 APP Sarah Leigh Tag Q1_23_promote_green was removed from gene: APP.
Adult onset leukodystrophy v2.46 APP Sarah Leigh changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v2.46 LAMB1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: LAMB1.
Tag Q1_23_MOI was removed from gene: LAMB1.
Tag Q1_23_NHS_review was removed from gene: LAMB1.
Adult onset leukodystrophy v2.46 PSEN2 Sarah Leigh Tag Q1_23_promote_green was removed from gene: PSEN2.
Tag Q1_23_NHS_review was removed from gene: PSEN2.
Adult onset leukodystrophy v2.46 PSEN2 Sarah Leigh changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Amber and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v2.46 GLA Sarah Leigh Tag Q3_22_MOI was removed from gene: GLA.
Adult onset leukodystrophy v2.46 TTR Sarah Leigh commented on gene: TTR: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v2.46 PSEN2 Sarah Leigh edited their review of gene: PSEN2: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: AMBER
Adult onset leukodystrophy v2.46 PSEN1 Sarah Leigh commented on gene: PSEN1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v2.46 PRNP Sarah Leigh commented on gene: PRNP: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v2.46 LAMB1 Sarah Leigh commented on gene: LAMB1: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v2.46 ITM2B Sarah Leigh commented on gene: ITM2B: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v2.46 GSN Sarah Leigh commented on gene: GSN: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v2.46 GLA Sarah Leigh reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v2.46 CST3 Sarah Leigh commented on gene: CST3: The rating of this gene has been updated to Amber and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v2.46 APP Sarah Leigh reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v2.45 TTR Sarah Leigh Source Expert Review Green was added to TTR.
Source NHS GMS was added to TTR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v2.45 PSEN2 Sarah Leigh Source NHS GMS was added to PSEN2.
Adult onset leukodystrophy v2.45 PSEN1 Sarah Leigh Source Expert Review Green was added to PSEN1.
Source NHS GMS was added to PSEN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v2.45 PRNP Sarah Leigh Source Expert Review Green was added to PRNP.
Source NHS GMS was added to PRNP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v2.45 LAMB1 Sarah Leigh Source Expert Review Green was added to LAMB1.
Source NHS GMS was added to LAMB1.
Mode of inheritance for gene LAMB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v2.45 ITM2B Sarah Leigh Source Expert Review Green was added to ITM2B.
Source NHS GMS was added to ITM2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v2.45 GSN Sarah Leigh Source Expert Review Green was added to GSN.
Source NHS GMS was added to GSN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v2.45 GLA Sarah Leigh Mode of inheritance for gene GLA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset leukodystrophy v2.45 CST3 Sarah Leigh Source NHS GMS was added to CST3.
Adult onset leukodystrophy v2.45 APP Sarah Leigh Source Expert Review Green was added to APP.
Source NHS GMS was added to APP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v2.44 LAMB1 Sarah Leigh edited their review of gene: LAMB1: Added comment: PMID: 34606115 reports heterozygous end-truncated LAMB1 in a hippocampal memory defect and a leukoencephalopathy. Other publications (PMID: 32548278; 25925986;23472759;29888467),
OMIM (https://www.omim.org/entry/150240?search=LAMB1&highlight=lamb1#geneMap), Gen2Phen (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1439) and ClinGen (https://search.clinicalgenome.org/kb/genes/HGNC:6486) all report the a bialleic mode inheritance between LAMB1 variants and disease. Based on this discrepancy, the suggested mode of inheritance has been changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v2.44 LAMB1 Sarah Leigh Tag Q1_23_MOI tag was added to gene: LAMB1.
Adult onset leukodystrophy v2.44 TTR Sarah Leigh edited their review of gene: TTR: Added comment: Associated with Amyloidosis, hereditary, transthyretin-related (OMIM:105210), but not associated with a phenotype in Gen2Phen. Numerous TTR variants have been reported in cases from different populations.; Changed rating: GREEN
Adult onset leukodystrophy v2.44 TTR Sarah Leigh Classified gene: TTR as Amber List (moderate evidence)
Adult onset leukodystrophy v2.44 TTR Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset leukodystrophy v2.44 TTR Sarah Leigh Gene: ttr has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v2.43 TTR Sarah Leigh Tag Q1_23_promote_green tag was added to gene: TTR.
Tag Q1_23_NHS_review tag was added to gene: TTR.
Adult onset leukodystrophy v2.43 TTR Sarah Leigh Mode of inheritance for gene: TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.42 TTR Sarah Leigh Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, OMIM:105210; familial amyloid neuropathy, MONDO:0007100
Adult onset leukodystrophy v2.41 TTR Sarah Leigh Publications for gene: TTR were set to
Adult onset leukodystrophy v2.40 LAMB1 Sarah Leigh Publications for gene: LAMB1 were set to 32548278; 34606115; 23472759; 25925986
Adult onset leukodystrophy v2.39 LAMB1 Sarah Leigh Publications for gene: LAMB1 were set to 32548278; 34606115
Adult onset leukodystrophy v2.38 LAMB1 Sarah Leigh edited their review of gene: LAMB1: Added comment: Associated with relevant phenotype in OMIM and as strong Gen2Phen gene. At least four variants have been reported in three unrelated cases of Lissencephaly 5, (OMIM:615191).; Changed rating: GREEN
Adult onset leukodystrophy v2.38 LAMB1 Sarah Leigh Classified gene: LAMB1 as Amber List (moderate evidence)
Adult onset leukodystrophy v2.38 LAMB1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset leukodystrophy v2.38 LAMB1 Sarah Leigh Gene: lamb1 has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v2.37 LAMB1 Sarah Leigh Tag Q1_23_promote_green tag was added to gene: LAMB1.
Tag Q1_23_NHS_review tag was added to gene: LAMB1.
Adult onset leukodystrophy v2.37 LAMB1 Sarah Leigh Phenotypes for gene: LAMB1 were changed from Retinal Vascular Abnormality; mild intellectual disability; white matter lesions; lower limb spasticity to Lissencephaly 5, OMIM:615191; cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077
Adult onset leukodystrophy v2.36 LAMB1 Sarah Leigh Publications for gene: LAMB1 were set to 32548278
Adult onset leukodystrophy v2.35 PSEN2 Sarah Leigh Tag Q1_23_promote_green tag was added to gene: PSEN2.
Tag Q1_23_NHS_review tag was added to gene: PSEN2.
Adult onset leukodystrophy v2.35 PSEN2 Sarah Leigh reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset leukodystrophy v2.35 PSEN2 Sarah Leigh Classified gene: PSEN2 as Amber List (moderate evidence)
Adult onset leukodystrophy v2.35 PSEN2 Sarah Leigh Gene: psen2 has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v2.34 PSEN2 Sarah Leigh Publications for gene: PSEN2 were set to 9450781
Adult onset leukodystrophy v2.33 PSEN2 Sarah Leigh Mode of inheritance for gene: PSEN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.32 PSEN2 Sarah Leigh Phenotypes for gene: PSEN2 were changed from to Alzheimer disease-4, OMIM:606889; Alzheimer disease 4, MONDO:0011743
Adult onset leukodystrophy v2.31 PSEN2 Sarah Leigh Publications for gene: PSEN2 were set to
Adult onset leukodystrophy v2.30 PSEN1 Sarah Leigh edited their review of gene: PSEN1: Added comment: PSEN1 variants are sssociated with OMIM:607822 & OMIM:600274, but not with a phenotype in Gen2Phen. Numerous PSEN1 variants have been reported in these conditions and PSEN1 related cerebral amyloid angiopathy is seen within a number of cases of Alzheimer disease, type 3 (OMIM:607822)(PMID: 26888304,11489138, 11395394, 34319632).; Changed rating: GREEN
Adult onset leukodystrophy v2.30 PSEN1 Sarah Leigh Tag Q1_23_promote_green tag was added to gene: PSEN1.
Tag Q1_23_NHS_review tag was added to gene: PSEN1.
Adult onset leukodystrophy v2.30 PSEN1 Sarah Leigh Classified gene: PSEN1 as Amber List (moderate evidence)
Adult onset leukodystrophy v2.30 PSEN1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset leukodystrophy v2.30 PSEN1 Sarah Leigh Gene: psen1 has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v2.29 PSEN1 Sarah Leigh Mode of inheritance for gene: PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.28 PSEN1 Sarah Leigh Phenotypes for gene: PSEN1 were changed from to Alzheimer disease, type 3, OMIM:607822; Alzheimer disease 3, MONDO:0011913; Dementia, frontotemporal, OMIM:600274; semantic dementia, MONDO:0010857
Adult onset leukodystrophy v2.27 PSEN1 Sarah Leigh Publications for gene: PSEN1 were set to
Adult onset leukodystrophy v2.26 PRNP Sarah Leigh edited their review of gene: PRNP: Added comment: Associated with relevant phenotype in OMIM (OMIM:137440), but not associated with a phenotype in Gen2Phen. Numberous PRNP variants have been reported for OMIM:137440.; Changed rating: GREEN
Adult onset leukodystrophy v2.26 PRNP Sarah Leigh Tag Q1_23_promote_green tag was added to gene: PRNP.
Tag Q1_23_NHS_review tag was added to gene: PRNP.
Adult onset leukodystrophy v2.26 PRNP Sarah Leigh Mode of inheritance for gene: PRNP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.25 PRNP Sarah Leigh Classified gene: PRNP as Amber List (moderate evidence)
Adult onset leukodystrophy v2.25 PRNP Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset leukodystrophy v2.25 PRNP Sarah Leigh Gene: prnp has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v2.24 PRNP Sarah Leigh Phenotypes for gene: PRNP were changed from to Cerebral amyloid angiopathy, PRNP-related, OMIM:137440; Gerstmann-Straussler disease, OMIM:137440; Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656
Adult onset leukodystrophy v2.23 GSN Sarah Leigh edited their review of gene: GSN: Added comment: Associated with Amyloidosis, Finnish type, in OMIM and as definitive gene for this phenotype in Gen2Phen. At least 4 variants have been reported (PMID: 25097823; 33973672; 33499149).; Changed rating: GREEN
Adult onset leukodystrophy v2.23 GSN Sarah Leigh Tag Q1_23_promote_green tag was added to gene: GSN.
Tag Q1_23_NHS_review tag was added to gene: GSN.
Adult onset leukodystrophy v2.23 GSN Sarah Leigh Classified gene: GSN as Amber List (moderate evidence)
Adult onset leukodystrophy v2.23 GSN Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset leukodystrophy v2.23 GSN Sarah Leigh Gene: gsn has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v2.22 GSN Sarah Leigh Publications for gene: GSN were set to 25097823; 7550233
Adult onset leukodystrophy v2.21 GSN Sarah Leigh Mode of inheritance for gene: GSN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset leukodystrophy v2.20 GSN Sarah Leigh Publications for gene: GSN were set to 25097823
Adult onset leukodystrophy v2.19 GSN Sarah Leigh Publications for gene: GSN were set to
Adult onset leukodystrophy v2.18 GSN Sarah Leigh Phenotypes for gene: GSN were changed from to Amyloidosis, Finnish type, OMIM:105120; Finnish type amyloidosis, MONDO:0007097
Adult onset leukodystrophy v2.17 ITM2B Sarah Leigh Mode of inheritance for gene: ITM2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset leukodystrophy v2.16 ITM2B Sarah Leigh edited their review of gene: ITM2B: Added comment: Associated with relevant phenotypes in OMIM (OMIM:176500 & OMIM:117300), but not associated with these phenotypes in Gen2Phen. Two terminating variants have been reported, one for each of the above phenotypes (PMID: 10391242, 10781099).; Changed rating: GREEN
Adult onset leukodystrophy v2.16 ITM2B Sarah Leigh Tag Q1_23_promote_green tag was added to gene: ITM2B.
Tag Q1_23_NHS_review tag was added to gene: ITM2B.
Adult onset leukodystrophy v2.16 ITM2B Sarah Leigh Classified gene: ITM2B as Amber List (moderate evidence)
Adult onset leukodystrophy v2.16 ITM2B Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset leukodystrophy v2.16 ITM2B Sarah Leigh Gene: itm2b has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v2.15 ITM2B Sarah Leigh Phenotypes for gene: ITM2B were changed from to Dementia, familial British, OMIM:176500; ABri amyloidosis, MONDO:0008306; Dementia, familial Danish, OMIM:117300; ADan amyloidosis, MONDO:0007297
Adult onset leukodystrophy v2.14 ITM2B Sarah Leigh Publications for gene: ITM2B were set to
Adult onset leukodystrophy v2.13 CST3 Sarah Leigh reviewed gene: CST3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset leukodystrophy v2.13 CST3 Sarah Leigh Publications for gene: CST3 were set to 2900981; 3495457; 1352269; 3673496; 7482672
Adult onset leukodystrophy v2.12 CST3 Sarah Leigh Tag founder-effect tag was added to gene: CST3.
Adult onset leukodystrophy v2.12 CST3 Sarah Leigh Classified gene: CST3 as Amber List (moderate evidence)
Adult onset leukodystrophy v2.12 CST3 Sarah Leigh Gene: cst3 has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v2.11 CST3 Sarah Leigh Publications for gene: CST3 were set to
Adult onset leukodystrophy v2.10 CST3 Sarah Leigh Mode of inheritance for gene: CST3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.9 CST3 Sarah Leigh Phenotypes for gene: CST3 were changed from Cerebral amyloid angiopathy, OMIM:105150; ACys amyloidosis, MONDO:0007098 to Cerebral amyloid angiopathy, OMIM:105150; ACys amyloidosis, MONDO:0007098
Adult onset leukodystrophy v2.9 CST3 Sarah Leigh Phenotypes for gene: CST3 were changed from Cerebral amyloid angiopathy, OMIM:105150 to Cerebral amyloid angiopathy, OMIM:105150; ACys amyloidosis, MONDO:0007098
Adult onset leukodystrophy v2.8 APP Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: APP.
Adult onset leukodystrophy v2.8 CST3 Arina Puzriakova Phenotypes for gene: CST3 were changed from to Cerebral amyloid angiopathy, OMIM:105150
Adult onset leukodystrophy v2.7 APP Arina Puzriakova Classified gene: APP as Amber List (moderate evidence)
Adult onset leukodystrophy v2.7 APP Arina Puzriakova Added comment: Comment on list classification: Sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated cases including relevant phenotype (leukoencephalopathy) and age of onset (~44 to 60 years).
Adult onset leukodystrophy v2.7 APP Arina Puzriakova Gene: app has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v2.6 APP Arina Puzriakova Publications for gene: APP were set to
Adult onset leukodystrophy v2.5 APP Arina Puzriakova Mode of inheritance for gene: APP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.4 APP Arina Puzriakova Phenotypes for gene: APP were changed from to Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714
Adult onset leukodystrophy v2.3 PRNP Eleanor Williams changed review comment from: Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: Cerebral amyloid angiopathy,PRNP-related. Evidence: MIM: 137440.; to: Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: Cerebral amyloid angiopathy, PRNP-related. Evidence: MIM: 137440.
Adult onset leukodystrophy v2.3 TTR Eleanor Williams reviewed gene: TTR: Rating: ; Mode of pathogenicity: ; Publications: 25802113, 31257920, 27466465, 34663645, 28991667, 35040071, 29779881, 34390072; Phenotypes: Cerebral amyloid angiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.3 LAMB1 Eleanor Williams reviewed gene: LAMB1: Rating: ; Mode of pathogenicity: ; Publications: 34606115; Phenotypes: Cerebral small vessel disease, with leukoencephalopathy and hippocampal memory impairment; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.3 PSEN2 Eleanor Williams reviewed gene: PSEN2: Rating: ; Mode of pathogenicity: ; Publications: 9450781; Phenotypes: PSEN2 related cerebral amyloid angiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.3 PSEN1 Eleanor Williams reviewed gene: PSEN1: Rating: ; Mode of pathogenicity: ; Publications: 34319632, 26888304, 11489138, 11395394; Phenotypes: PSEN1 related cerebral amyloid angiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.3 PRNP Eleanor Williams reviewed gene: PRNP: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral amyloid angiopathy,PRNP-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.3 GSN Eleanor Williams reviewed gene: GSN: Rating: ; Mode of pathogenicity: ; Publications: 25097823; Phenotypes: Hereditary gelsolin amyloidosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.3 ITM2B Eleanor Williams reviewed gene: ITM2B: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial British Dementia/Familial Danish Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.3 CST3 Eleanor Williams reviewed gene: CST3: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral amyloid angiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.3 APP Eleanor Williams reviewed gene: APP: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: CEREBRAL AMYLOID ANGIOPATHY,APP-RELATED; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.2 TTR Eleanor Williams gene: TTR was added
gene: TTR was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: TTR was set to
Adult onset leukodystrophy v2.2 PSEN2 Eleanor Williams gene: PSEN2 was added
gene: PSEN2 was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: PSEN2 was set to
Adult onset leukodystrophy v2.2 PSEN1 Eleanor Williams gene: PSEN1 was added
gene: PSEN1 was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: PSEN1 was set to
Adult onset leukodystrophy v2.2 PRNP Eleanor Williams gene: PRNP was added
gene: PRNP was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: PRNP was set to
Adult onset leukodystrophy v2.2 GSN Eleanor Williams gene: GSN was added
gene: GSN was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: GSN was set to
Adult onset leukodystrophy v2.2 ITM2B Eleanor Williams gene: ITM2B was added
gene: ITM2B was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: ITM2B was set to
Adult onset leukodystrophy v2.2 CST3 Eleanor Williams gene: CST3 was added
gene: CST3 was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: CST3 was set to
Adult onset leukodystrophy v2.2 APP Eleanor Williams gene: APP was added
gene: APP was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: APP was set to
Adult onset leukodystrophy v2.1 Eleanor Williams Panel version 2.0 has been signed off on 2022-11-30
Adult onset leukodystrophy v2.0 Eleanor Williams promoted panel to version 2.0
Adult onset leukodystrophy v1.49 ADAR Arina Puzriakova Classified gene: ADAR as Green List (high evidence)
Adult onset leukodystrophy v1.49 ADAR Arina Puzriakova Added comment: Comment on list classification: Could not find any evidence of adult-onset disease in literature. Even in atypically late-onset cases of AGS, symptoms typically begin with the first 5 years of life.
Adult onset leukodystrophy v1.49 ADAR Arina Puzriakova Gene: adar has been classified as Green List (High Evidence).
Adult onset leukodystrophy v1.48 ADAR Arina Puzriakova Tag Q4_22_demote_red tag was added to gene: ADAR.
Adult onset leukodystrophy v1.48 ADAR Arina Puzriakova Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6, 615010 to Aicardi-Goutieres syndrome 6, OMIM:615010
Adult onset leukodystrophy v1.47 RNASET2 Eleanor Williams commented on gene: RNASET2
Adult onset leukodystrophy v1.47 RNASET2 Eleanor Williams Tag Q4_21_rating tag was added to gene: RNASET2.
Adult onset leukodystrophy v1.47 POLR1C Eleanor Williams commented on gene: POLR1C
Adult onset leukodystrophy v1.47 POLR1C Eleanor Williams Tag Q4_21_rating tag was added to gene: POLR1C.
Adult onset leukodystrophy v1.47 COL4A2 Eleanor Williams commented on gene: COL4A2
Adult onset leukodystrophy v1.47 COL4A2 Eleanor Williams Tag Q4_21_rating tag was added to gene: COL4A2.
Adult onset leukodystrophy v1.47 AARS Eleanor Williams commented on gene: AARS
Adult onset leukodystrophy v1.47 AARS Eleanor Williams Tag Q4_21_rating tag was added to gene: AARS.
Adult onset leukodystrophy v1.47 MARS Eleanor Williams commented on gene: MARS
Adult onset leukodystrophy v1.47 MARS Eleanor Williams Tag Q4_21_rating tag was added to gene: MARS.
Adult onset leukodystrophy v1.47 TPP2 Eleanor Williams Phenotypes for gene: TPP2 were changed from White matter abnormalities; autoimmunity; immunodefficiency; developmental delay to White matter abnormalities; Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220
Adult onset leukodystrophy v1.46 TPP2 Eleanor Williams changed review comment from: Associated with Immunodeficiency 78 with autoimmunity and developmental delay, #619220 in OMIM.

2 cases reported of homozygous missense variants in TPP2 and a MS-type phenotype. However, 1 of the variants is also found in some MS patients in the heterozygous state.

PMID: 33586135 - Atallah et al 2021- (not PMID: 25414442) summarises 14 patients with TPP2 pathogenic variants reported in their study and other publications. They report that 'the adult form, described in four patients, manifests as a chronic non-infectious brain inflammation with demyelinating brain disease and calcifications somewhat similar to multiple sclerosis.'. These 4 patients are reported in PMID: 30533531 (Reinthaler et al 2018) who describe a Syrian family with milder symptoms of sterile brain inflammation mimicking MS and no developmental delay. A missense variant, c.82T>G, p.Cys28Gly, in TPP2 was identified in all 3 affected siblings of the family. A Jordian patient with MS was also identified to have a homozygous missense variant (c.2027C>T, p.Thr676Ile) in TPP2. This variant also occurs in heterozygous form in other MS cases and in 6 ExAC control individuals so the authors acknowledge that it may not be pathogenic.; to: Associated with Immunodeficiency 78 with autoimmunity and developmental delay, #619220 in OMIM.

2 cases reported of homozygous missense variants in TPP2 and a MS-type phenotype. However, 1 of the variants is also found in some MS patients in the heterozygous state.

PMID: 33586135 - Atallah et al 2021- (not PMID: 25414442) summarises 14 patients with TPP2 pathogenic variants reported in their study and other publications. They report that 'the adult form, described in four patients, manifests as a chronic non-infectious brain inflammation with demyelinating brain disease and calcifications somewhat similar to multiple sclerosis.'. These 4 patients are reported in PMID: 30533531 (Reinthaler et al 2018) who describe a Syrian family with milder symptoms of sterile brain inflammation mimicking MS and no developmental delay. A missense variant, c.82T>G, p.Cys28Gly, in TPP2 was identified in all 3 affected siblings of the family. A Jordian patient with MS was also identified to have a homozygous missense variant (c.2027C>T, p.Thr676Ile) in TPP2. This variant also occurs in heterozygous form in other MS cases and in 6 ExAC control individuals so the authors acknowledge that it may not be pathogenic. Age of diagnosis for these patients was 35 year plus.

Other cases with variants in this gene are reported in PMIDS: 25414442; 25525876; 30533531, however these present in childhood with a recurrent respiratory infections, autoimmune cytopenias, developmental delay and progressive combined immunodeficiency.
Adult onset leukodystrophy v1.46 TPP2 Eleanor Williams Publications for gene: TPP2 were set to 33586135
Adult onset leukodystrophy v1.45 TPP2 Eleanor Williams Publications for gene: TPP2 were set to PMID:25414442
Adult onset leukodystrophy v1.44 TPP2 Eleanor Williams Classified gene: TPP2 as Amber List (moderate evidence)
Adult onset leukodystrophy v1.44 TPP2 Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber. 2 cases (4 individuals) with homozygous variants in this gene reported with an MS-like phenotype, but some doubt over the pathogenicity of the variant in 1 case.
Adult onset leukodystrophy v1.44 TPP2 Eleanor Williams Gene: tpp2 has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v1.43 TPP2 Eleanor Williams reviewed gene: TPP2: Rating: ; Mode of pathogenicity: None; Publications: 33586135, 25414442, 25525876, 30533531; Phenotypes: ; Mode of inheritance: None
Adult onset leukodystrophy v1.43 GLA Eleanor Williams Tag Q3_22_expert_review was removed from gene: GLA.
Adult onset leukodystrophy v1.43 GLA Eleanor Williams changed review comment from: Comment on mode of inheritance: The mode of inheritance for this gene should be considered for change to 'X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' which would make it in line with all other GMS panels.

Wang et al 2007 (PMID: 17224688) reports the phenotypes of 44 females with GLA variants. Only 1 was considered asymptomatic. 31/41 were ascertained following diagnosis of another affected family member. 24% (9/37) reported symptoms of TIA (transient ischemic attacks) and 22% (8/36) had sustained at least one CVA (cerebrovascular accidents). They report that 7 patients had both TIA and CVA and that the prevalence of CVA in this cohort (22%) was nearly ten times higher than the prevalence in the United States (2.3% of all women older than 18 years). They say that heterozygous Fabry women should not be called carriers due to the serious nature of their symptoms.; to: Comment on mode of inheritance: The mode of inheritance for this gene should be considered for change to 'X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' which would make it in line with all other GMS panels.

Wang et al 2007 (PMID: 17224688) reports the phenotypes of 44 females with GLA variants. Only 1 was considered asymptomatic. 31/41 were ascertained following diagnosis of another affected family member. 24% (9/37) reported symptoms of TIA (transient ischemic attacks) and 22% (8/36) had sustained at least one CVA (cerebrovascular accidents). They report that 7 patients had both TIA and CVA and that the prevalence of CVA in this cohort (22%) was nearly ten times higher than the prevalence in the United States (2.3% of all women older than 18 years). They say that heterozygous Fabry women should not be called carriers due to the serious nature of their symptoms.
Adult onset leukodystrophy v1.43 GLA Eleanor Williams Added comment: Comment on mode of inheritance: The mode of inheritance for this gene should be considered for change to 'X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' which would make it in line with all other GMS panels.

Wang et al 2007 (PMID: 17224688) reports the phenotypes of 44 females with GLA variants. Only 1 was considered asymptomatic. 31/41 were ascertained following diagnosis of another affected family member. 24% (9/37) reported symptoms of TIA (transient ischemic attacks) and 22% (8/36) had sustained at least one CVA (cerebrovascular accidents). They report that 7 patients had both TIA and CVA and that the prevalence of CVA in this cohort (22%) was nearly ten times higher than the prevalence in the United States (2.3% of all women older than 18 years). They say that heterozygous Fabry women should not be called carriers due to the serious nature of their symptoms.
Adult onset leukodystrophy v1.43 GLA Eleanor Williams Mode of inheritance for gene: GLA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v1.42 GLA Eleanor Williams Tag Q3_22_MOI tag was added to gene: GLA.
Tag Q3_22_expert_review tag was added to gene: GLA.
Adult onset leukodystrophy v1.42 MAL Sarah Leigh Entity copied from Inherited white matter disorders v1.159
Adult onset leukodystrophy v1.42 MAL Sarah Leigh gene: MAL was added
gene: MAL was added to White matter disorders - adult onset. Sources: Literature,Expert Review Amber
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
Adult onset leukodystrophy v1.41 HEPACAM Arina Puzriakova Phenotypes for gene: HEPACAM were changed from Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 to Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926
Adult onset leukodystrophy v1.40 RNASET2 Sarah Leigh commented on gene: RNASET2
Adult onset leukodystrophy v1.40 RNASET2 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: RNASET2.
Adult onset leukodystrophy v1.40 POLR1C Sarah Leigh commented on gene: POLR1C
Adult onset leukodystrophy v1.40 POLR1C Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: POLR1C.
Adult onset leukodystrophy v1.40 MARS Sarah Leigh commented on gene: MARS
Adult onset leukodystrophy v1.40 MARS Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: MARS.
Adult onset leukodystrophy v1.40 COL4A2 Sarah Leigh commented on gene: COL4A2
Adult onset leukodystrophy v1.40 COL4A2 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: COL4A2.
Adult onset leukodystrophy v1.40 AARS Sarah Leigh commented on gene: AARS
Adult onset leukodystrophy v1.40 AARS Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: AARS.
Adult onset leukodystrophy v1.40 LIG3 Eleanor Williams Tag Q2_21_rating was removed from gene: LIG3.
Adult onset leukodystrophy v1.40 EPRS Eleanor Williams Tag Q2_21_rating was removed from gene: EPRS.
Adult onset leukodystrophy v1.40 EARS2 Eleanor Williams Tag Q4_21_expert_review was removed from gene: EARS2.
Adult onset leukodystrophy v1.40 CYP7B1 Eleanor Williams Tag Q2_21_expert_review was removed from gene: CYP7B1.
Adult onset leukodystrophy v1.40 CTC1 Eleanor Williams Tag Q3_21_expert_review was removed from gene: CTC1.
Adult onset leukodystrophy v1.40 AUH Eleanor Williams Tag Q2_21_rating was removed from gene: AUH.
Adult onset leukodystrophy v1.40 LIG3 Sarah Leigh commented on gene: LIG3
Adult onset leukodystrophy v1.40 EPRS Sarah Leigh commented on gene: EPRS
Adult onset leukodystrophy v1.40 EARS2 Sarah Leigh commented on gene: EARS2
Adult onset leukodystrophy v1.40 CYP7B1 Sarah Leigh commented on gene: CYP7B1
Adult onset leukodystrophy v1.40 CTC1 Sarah Leigh commented on gene: CTC1
Adult onset leukodystrophy v1.40 AUH Sarah Leigh commented on gene: AUH
Adult onset leukodystrophy v1.39 LIG3 Eleanor Williams Source Expert Review Green was added to LIG3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v1.39 EPRS Eleanor Williams Source Expert Review Green was added to EPRS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v1.39 EARS2 Eleanor Williams Source Expert Review Amber was added to EARS2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset leukodystrophy v1.39 CTC1 Eleanor Williams Source Expert Review Amber was added to CTC1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset leukodystrophy v1.39 AUH Eleanor Williams Source Expert Review Green was added to AUH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v1.38 LARS2 Eleanor Williams Tag for-review was removed from gene: LARS2.
Adult onset leukodystrophy v1.38 LARS2 Sarah Leigh commented on gene: LARS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v1.37 LARS2 Eleanor Williams Source Expert Review Green was added to LARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v1.36 TPP2 Dmitrijs Rots edited their review of gene: TPP2: Changed rating: GREEN
Adult onset leukodystrophy v1.36 TPP2 Dmitrijs Rots changed review comment from: 14 individuals with "TRIANGLE" (TPPII-related immunodeficiency,
autoimmunity, and neurodevelopmental delay with impaired glycolysis
and lysosomal expansion) syndrome are summarized in 25414442, where 4/14 presented in adulthood with white matter leasions mimicking multiple sclerosis.
Sources: Literature; to: 14 individuals with "TRIANGLE" (TPPII-related immunodeficiency,
autoimmunity, and neurodevelopmental delay with impaired glycolysis
and lysosomal expansion) syndrome are summarized in 25414442, where 4/14 presented in adulthood with white matter leasions mimicking multiple sclerosis.
Should be rated green.
Sources: Literature
Adult onset leukodystrophy v1.36 TPP2 Dmitrijs Rots changed review comment from: 14 individuals with "TRIANGLE" (TPPII-related immunodeficiency,
autoimmunity, and neurodevelopmental delay with impaired glycolysis
and lysosomal expansion) syndrome are summarized in 25414442, where 4/14 presented in adulthood with white matter leasions mimicking multiple sclerosis.
Sources: Literature; to: 14 individuals with "TRIANGLE" (TPPII-related immunodeficiency,
autoimmunity, and neurodevelopmental delay with impaired glycolysis
and lysosomal expansion) syndrome are summarized in 25414442, where 4/14 presented in adulthood with white matter leasions mimicking multiple sclerosis.
Sources: Literature
Adult onset leukodystrophy v1.36 TPP2 Dmitrijs Rots gene: TPP2 was added
gene: TPP2 was added to White matter disorders - adult onset. Sources: Literature
Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPP2 were set to PMID:25414442
Phenotypes for gene: TPP2 were set to White matter abnormalities; autoimmunity; immunodefficiency; developmental delay
Added comment: 14 individuals with "TRIANGLE" (TPPII-related immunodeficiency,
autoimmunity, and neurodevelopmental delay with impaired glycolysis
and lysosomal expansion) syndrome are summarized in 25414442, where 4/14 presented in adulthood with white matter leasions mimicking multiple sclerosis.
Sources: Literature
Adult onset leukodystrophy v1.36 CTC1 Ivone Leong Tag Q3_21_expert_review tag was added to gene: CTC1.
Adult onset leukodystrophy v1.36 AARS Ivone Leong Tag Q2_21_rating was removed from gene: AARS.
Tag Q4_21_expert_review tag was added to gene: AARS.
Adult onset leukodystrophy v1.36 AARS Ivone Leong Tag Q2_21_rating tag was added to gene: AARS.
Adult onset leukodystrophy v1.36 LAMB1 Zornitza Stark changed review comment from: Mono-allelic LAMB1 variants reported in 5 families with cerebral small vessel disease. 4 are truncating frameshifts (and 2 of the families have the same frameshift), 1 is a canonical splice. All families had adult onset of symptoms ranging from 20-63yo. All has white matter hyper intensity on imaging.; to: New MOI

Mono-allelic LAMB1 variants reported in 5 families with cerebral small vessel disease. 4 are truncating frameshifts (and 2 of the families have the same frameshift), 1 is a canonical splice. All families had adult onset of symptoms ranging from 20-63yo. All has white matter hyper intensity on imaging.
Adult onset leukodystrophy v1.36 LAMB1 Zornitza Stark edited their review of gene: LAMB1: Added comment: Mono-allelic LAMB1 variants reported in 5 families with cerebral small vessel disease. 4 are truncating frameshifts (and 2 of the families have the same frameshift), 1 is a canonical splice. All families had adult onset of symptoms ranging from 20-63yo. All has white matter hyper intensity on imaging.; Changed rating: GREEN; Changed publications to: 32548278, 34606115; Changed phenotypes to: Adult-onset leukodystrophy; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset leukodystrophy v1.36 RNASEH2B Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181 to Aicardi-Goutieres syndrome 2, OMIM:610181
Adult onset leukodystrophy v1.35 RNASET2 Ivone Leong Tag Q4_21_expert_review tag was added to gene: RNASET2.
Adult onset leukodystrophy v1.35 POLR1C Ivone Leong Tag Q4_21_expert_review tag was added to gene: POLR1C.
Adult onset leukodystrophy v1.35 MARS Ivone Leong Tag Q4_21_expert_review tag was added to gene: MARS.
Tag Q4_21_phenotype tag was added to gene: MARS.
Adult onset leukodystrophy v1.35 EARS2 Ivone Leong Tag Q4_21_expert_review tag was added to gene: EARS2.
Adult onset leukodystrophy v1.35 CTC1 Ivone Leong Phenotypes for gene: CTC1 were changed from Cerebroretinal microangiopathy with calcifications and cysts, 612199 to Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199
Adult onset leukodystrophy v1.34 CTC1 Ivone Leong Publications for gene: CTC1 were set to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v1.33 COL4A2 Ivone Leong Tag Q4_21_expert_review tag was added to gene: COL4A2.
Tag Q4_21_phenotype tag was added to gene: COL4A2.
Adult onset leukodystrophy v1.33 LMNB1 Arina Puzriakova Phenotypes for gene: LMNB1 were changed from Leukodystrophy, adult-onset, autosomal dominant, 169500 to Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500
Adult onset leukodystrophy v1.32 CSF1R Arina Puzriakova Phenotypes for gene: CSF1R were changed from Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 to Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Adult onset leukodystrophy v1.31 CLCN2 Arina Puzriakova Phenotypes for gene: CLCN2 were changed from Leukoencephalopathy with ataxia, 615651 to Leukoencephalopathy with ataxia, OMIM:615651
Adult onset leukodystrophy v1.30 GJA1 Arina Puzriakova Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
Adult onset leukodystrophy v1.29 GBE1 Arina Puzriakova Phenotypes for gene: GBE1 were changed from Polyglucosan body disease, adult form, 263570 to Polyglucosan body disease, adult form, OMIM:263570
Adult onset leukodystrophy v1.28 GALC Arina Puzriakova Phenotypes for gene: GALC were changed from Krabbe disease, 245200 to Krabbe disease, OMIM:245200
Adult onset leukodystrophy v1.27 ALDH3A2 Arina Puzriakova Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome, 270200 to Sjogren-Larsson syndrome, OMIM:270200
Adult onset leukodystrophy v1.26 Ivone Leong List of related panels changed from R62 to R62; Adult onset leukodystrophy
Panel version 1.25 has been signed off on 2021-08-05
Adult onset leukodystrophy v1.25 EPRS Eleanor Williams Classified gene: EPRS as Amber List (moderate evidence)
Adult onset leukodystrophy v1.25 EPRS Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber but with recommendation for green rating following GMS review. 4 unrelated cases. Presentation generally before age of 18 but after consultation with the Genomics England clinical team it was decided that it was also appropriate to propose as green on the adult onset panel.
Adult onset leukodystrophy v1.25 EPRS Eleanor Williams Gene: eprs has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v1.24 EPRS Eleanor Williams Publications for gene: EPRS were set to 29576217
Adult onset leukodystrophy v1.23 EPRS Eleanor Williams Tag Q2_21_rating tag was added to gene: EPRS.
Adult onset leukodystrophy v1.23 EPRS Eleanor Williams edited their review of gene: EPRS: Added comment: As reported by the expert reviewer PMID: 29576217 (Mendes et al 2018) reports 4 unrelated affected individuals with hypomyelination and biallelic (homozygous or compound het) pathogenic variants in EPRS. 5 variants in total identified (1 nonsense, 1 frameshift, 3 missense). Variants segregated with the disease in all 4 families. All 4 presented initially before the age of 18 and in all brain MRI showed a hypomyelinating leukodystrophy with thinning of the corpus callosum. In 3 cases the variant was identified by WES, in one by direct sequencing of EPRS1.

PMID: 33805425 - Sawaguchi et al 2021 - using a mouse model they show that EPRS1 variant Arg339-to-Ter (R339X) (found in one of the patients in Mendes et al in heterozgyous state with another variant) localizes EPRS1 proteins as polymeric aggregates into Rab7-positive vesicle structures in mouse oligodendroglial FBD-102b cells. Wild-type proteins are distributed throughout the cell bodies. This seems to inhibit cell morphological differentiation.; Changed rating: GREEN; Changed publications to: 29576217, 33805425; Changed phenotypes to: Leukodystrophy, hypomyelinating, 15, OMIM:617951; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v1.23 EPRS Ivone Leong Phenotypes for gene: EPRS were changed from Leukodystrophy, hypomyelinating, 15, MIM# 617951 to Leukodystrophy, hypomyelinating, 15, OMIM:617951
Adult onset leukodystrophy v1.22 COL4A2 Ivone Leong Phenotypes for gene: COL4A2 were changed from Brain small vessel disease 2, 614483 to Brain small vessel disease 2, OMIM:614483
Adult onset leukodystrophy v1.21 AUH Ivone Leong Tag Q2_21_rating tag was added to gene: AUH.
Adult onset leukodystrophy v1.21 AUH Ivone Leong Classified gene: AUH as Amber List (moderate evidence)
Adult onset leukodystrophy v1.21 AUH Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. The age of onset is between 1 to 52 years of age. Childhood onset patients have psychomotor retardation and white matter changes. There are 3 cases of adult onset of this phenotype. Patients presented with ataxia (3/3), dementia (2/3) and spasticity (2/3) and all had white matter changes. This gene should be rated Green at the next review.
Adult onset leukodystrophy v1.21 AUH Ivone Leong Gene: auh has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v1.20 AUH Ivone Leong Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I, MIM# 250950 to 3-methylglutaconic aciduria, type I, OMIM:250950
Adult onset leukodystrophy v1.19 AUH Ivone Leong Publications for gene: AUH were set to 20855850
Adult onset leukodystrophy v1.18 ASPA Ivone Leong Classified gene: ASPA as Red List (low evidence)
Adult onset leukodystrophy v1.18 ASPA Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Age of onset for Canavan disease is reported range from congenital, infantile to childhood onset. PMID: 2512436 indicated that there are late-onset forms of Canavan disease; however, I cannot access this article. There is enough evidence to support a gene-disease association; however, due to lack of evidence about age of onset being in adulthood, this gene has been given a Red rating on this panel.

This gene is Green on White matter disorders and cerebral calcification - narrow panel (Version 1.181).
Adult onset leukodystrophy v1.18 ASPA Ivone Leong Gene: aspa has been classified as Red List (Low Evidence).
Adult onset leukodystrophy v1.17 ASPA Ivone Leong Phenotypes for gene: ASPA were changed from to Canavan disease, OMIM:271900
Adult onset leukodystrophy v1.16 POLR3B Arina Puzriakova Phenotypes for gene: POLR3B were changed from Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381
Adult onset leukodystrophy v1.15 CYP7B1 Arina Puzriakova Publications for gene: CYP7B1 were set to 24117163; 19439420; 19187859
Adult onset leukodystrophy v1.14 CYP7B1 Arina Puzriakova Classified gene: CYP7B1 as Red List (low evidence)
Adult onset leukodystrophy v1.14 CYP7B1 Arina Puzriakova Added comment: Comment on list classification: CYP7B1 will be flagged for GMS review to assess whether the phenotype is appropriate and there is enough potential clinical value to rate as Green on this panel.
Adult onset leukodystrophy v1.14 CYP7B1 Arina Puzriakova Gene: cyp7b1 has been classified as Red List (Low Evidence).
Adult onset leukodystrophy v1.13 CYP7B1 Arina Puzriakova reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19187859, 19439420, 24117163; Phenotypes: Spastic paraplegia 5A, autosomal recessive , OMIM:270800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v1.13 CYP7B1 Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: CYP7B1.
Adult onset leukodystrophy v1.13 CYP7B1 Arina Puzriakova Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive, MIM# 270800 to Spastic paraplegia 5A, autosomal recessive , OMIM:270800
Adult onset leukodystrophy v1.12 LAMB1 Arina Puzriakova Classified gene: LAMB1 as Red List (low evidence)
Adult onset leukodystrophy v1.12 LAMB1 Arina Puzriakova Added comment: Comment on list classification: Rating Red as currently only a single adult-onset case of leukoencephalopathy reported (PMID: 32548278). Additional cases required prior to inclusion on this panel. All other publications to date report congenital or infantile- to childhood-onset leukoencephalopathy.
Adult onset leukodystrophy v1.12 LAMB1 Arina Puzriakova Gene: lamb1 has been classified as Red List (Low Evidence).
Adult onset leukodystrophy v1.11 LIG3 Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.100
Adult onset leukodystrophy v1.11 LIG3 Ivone Leong gene: LIG3 was added
gene: LIG3 was added to White matter disorders - adult onset. Sources: Expert Review Amber,Literature
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
Adult onset leukodystrophy v1.10 OCRL Eleanor Williams Phenotypes for gene: OCRL were changed from Lowe syndrome, 309000 to Lowe syndrome, OMIM:309000
Adult onset leukodystrophy v1.9 OCRL Eleanor Williams Publications for gene: OCRL were set to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v1.8 OCRL Eleanor Williams reviewed gene: OCRL: Rating: ; Mode of pathogenicity: None; Publications: 33517444; Phenotypes: ; Mode of inheritance: None
Adult onset leukodystrophy v1.8 EPRS Eleanor Williams commented on gene: EPRS
Adult onset leukodystrophy v1.8 EPRS Eleanor Williams Tag new-gene-name tag was added to gene: EPRS.
Adult onset leukodystrophy v1.8 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from Leukodystrophy to Perrault syndrome 4, OMIM:615300; Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Leukodystrophy
Adult onset leukodystrophy v1.7 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Adult onset leukodystrophy v1.6 LARS2 Sarah Leigh Publications for gene: LARS2 were set to 32442335; 30737337
Adult onset leukodystrophy v1.5 LARS2 Sarah Leigh edited their review of gene: LARS2: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN
Adult onset leukodystrophy v1.5 LARS2 Sarah Leigh Tag for-review tag was added to gene: LARS2.
Adult onset leukodystrophy v1.5 LARS2 Sarah Leigh Classified gene: LARS2 as Amber List (moderate evidence)
Adult onset leukodystrophy v1.5 LARS2 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for Perrault syndrome. At least 10 variants reported as compound heterozygotes in five unrelated cases whose varied phenotypes included leukodystrophy (PMIDs 32442335;30737337).
Adult onset leukodystrophy v1.5 LARS2 Sarah Leigh Gene: lars2 has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v1.4 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS2 were set to 32442335; 30737337
Phenotypes for gene: LARS2 were set to Leukodystrophy
Review for gene: LARS2 was set to GREEN
gene: LARS2 was marked as current diagnostic
Added comment: Five individuals reported where leukodystrophy was part of LARS2-associated Perrault syndrome. Neurological decline and MRI abnormalities were primarily in adulthood.
Sources: Expert list
Adult onset leukodystrophy v1.4 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to White matter disorders - adult onset. Sources: Literature
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB1 were set to 32548278
Phenotypes for gene: LAMB1 were set to Retinal Vascular Abnormality; mild intellectual disability; white matter lesions; lower limb spasticity
Review for gene: LAMB1 was set to RED
Added comment: Single adult female patient with onset of symptoms after 22yrs of age reported with novel homozygous missense variant (parents distantly related family), no further evidence of pathogenicity, however note two reports of cystic leukodystrophy in paediatric patients.
Sources: Literature
Adult onset leukodystrophy v1.4 SPG21 Zornitza Stark gene: SPG21 was added
gene: SPG21 was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG21 were set to 14564668
Phenotypes for gene: SPG21 were set to Mast syndrome, MIM# 248900
Review for gene: SPG21 was set to GREEN
Added comment: Three patients reported with white matter abnormalities, diagnosed with Mast syndrome.
Sources: Expert list
Adult onset leukodystrophy v1.4 RPS6KA3 Zornitza Stark reviewed gene: RPS6KA3: Rating: RED; Mode of pathogenicity: None; Publications: 16691578; Phenotypes: Coffin-Lowry syndrome MIM#303600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v1.4 RNF216 Zornitza Stark reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: None; Publications: 28334938, 26250479; Phenotypes: Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v1.4 RNASET2 Zornitza Stark reviewed gene: RNASET2: Rating: RED; Mode of pathogenicity: None; Publications: 19525954; Phenotypes: Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v1.4 POLR1C Zornitza Stark reviewed gene: POLR1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 26151409, 32042905; Phenotypes: Leukodystrophy, hypomyelinating, 11, MIM# 616494; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v1.4 OCRL Zornitza Stark reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lowe syndrome, MIM# 309000; Mode of inheritance: None
Adult onset leukodystrophy v1.4 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to 26910362; 29406968
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1/D 257220
Review for gene: NPC1 was set to GREEN
gene: NPC1 was marked as current diagnostic
Added comment: White matter lesions identified in MRI of 5/11 of Niemann-Pick patients (including adult-onset) and in an NPC mouse model.
Sources: Expert list
Adult onset leukodystrophy v1.4 MARS Zornitza Stark reviewed gene: MARS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2U MIM#616280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v1.4 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM# 248500
Review for gene: MAN2B1 was set to GREEN
gene: MAN2B1 was marked as current diagnostic
Added comment: White matter changes may occur in adulthood.
Sources: Expert list
Adult onset leukodystrophy v1.4 HMGCL Zornitza Stark reviewed gene: HMGCL: Rating: RED; Mode of pathogenicity: None; Publications: 28583327; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v1.4 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCDH were set to 15985591
Phenotypes for gene: GCDH were set to Glutaric aciduria, type I 231670
Review for gene: GCDH was set to AMBER
Added comment: Two unrelated individuals reported with late-onset neurological disease including leukodystrophy. Note typical GA Type I has onset before the age of 2 years, and leukodystrophy is not a prominent feature.
Sources: Expert list
Adult onset leukodystrophy v1.4 EPRS Zornitza Stark gene: EPRS was added
gene: EPRS was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPRS were set to 29576217
Phenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15, MIM# 617951
Review for gene: EPRS was set to GREEN
gene: EPRS was marked as current diagnostic
Added comment: Four unrelated families reported with this neurodegenerative disorder. Onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, dysphagia, severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum.
Sources: Expert list
Adult onset leukodystrophy v1.4 EARS2 Zornitza Stark reviewed gene: EARS2: Rating: RED; Mode of pathogenicity: None; Publications: 22492562, 23008233, 25854774, 26619324, 26893310; Phenotypes: Combined oxidative phosphorylation deficiency 12, MIM# 614924, Leukoencephalopathy with thalamus and brainstem involvement and high lactate; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v1.4 CYP7B1 Zornitza Stark gene: CYP7B1 was added
gene: CYP7B1 was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to 24117163; 19439420; 19187859
Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive, MIM# 270800
Review for gene: CYP7B1 was set to GREEN
gene: CYP7B1 was marked as current diagnostic
Added comment: White matter lesions have been reported as a feature of the condition in >3 cases.
Sources: Expert list
Adult onset leukodystrophy v1.4 CTC1 Zornitza Stark reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22267198, 22387016, 22532422; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset leukodystrophy v1.4 COL4A2 Zornitza Stark reviewed gene: COL4A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 2, MIM# 614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset leukodystrophy v1.4 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AUH were set to 20855850
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, MIM# 250950
Review for gene: AUH was set to GREEN
gene: AUH was marked as current diagnostic
Added comment: Onset is typically in childhood, though presentation is variable so we have this gene on both paediatric and adult panels. Specifically, two individuals with late onset disease including leukodystrophy reported.
Sources: Expert list
Adult onset leukodystrophy v1.4 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPA were set to Canavan disease, MIM# 271900
Review for gene: ASPA was set to GREEN
Added comment: Congenital, infantile, and late-onset forms of Canavan disease reported.
Sources: Expert list
Adult onset leukodystrophy v1.4 AARS Zornitza Stark reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 31775912; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2N 613287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v1.3 Catherine Snow Panel version has been signed off
Adult onset leukodystrophy v1.0 Louise Daugherty promoted panel to version 1.0
Adult onset leukodystrophy v0.25 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Adult onset leukodystrophy v0.23 KIF5A Louise Daugherty edited their review of gene: KIF5A: Changed rating: AMBER
Adult onset leukodystrophy v0.23 KIF5A Louise Daugherty Phenotypes for gene: KIF5A were changed from Hereditaryspastic paraplegia to Hereditary spastic paraplegia
Adult onset leukodystrophy v0.22 KIF5A Louise Daugherty Classified gene: KIF5A as Amber List (moderate evidence)
Adult onset leukodystrophy v0.22 KIF5A Louise Daugherty Added comment: Comment on list classification: Downgraded gene from Green to Amber from expert review David Lynch. This approach was also agreed in principle with the Genomic England clinical team (25th November 2019), the change will be flagged up in the sign-off email to the test group for this panel.
Adult onset leukodystrophy v0.22 KIF5A Louise Daugherty Gene: kif5a has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v0.21 KIF5A Louise Daugherty changed review comment from: Review and rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.; to: Review and Green rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.
Adult onset leukodystrophy v0.21 KIF5A Louise Daugherty edited their review of gene: KIF5A: Added comment: Red review to flag up for further discussion with GMS Neurology Specialist Test Group due to review from David Lynch; Changed rating: RED
Adult onset leukodystrophy v0.21 TYMP Louise Daugherty Classified gene: TYMP as Green List (high evidence)
Adult onset leukodystrophy v0.21 TYMP Louise Daugherty Added comment: Comment on list classification: Appropriate phenotype, sufficient cases, and external review all support gene-disease association.
Adult onset leukodystrophy v0.21 TYMP Louise Daugherty Gene: tymp has been classified as Green List (High Evidence).
Adult onset leukodystrophy v0.20 SNORD118 Louise Daugherty Classified gene: SNORD118 as Green List (high evidence)
Adult onset leukodystrophy v0.20 SNORD118 Louise Daugherty Added comment: Comment on list classification: Appropriate phenotype, sufficient cases, and external review all support gene-disease association.
Adult onset leukodystrophy v0.20 SNORD118 Louise Daugherty Gene: snord118 has been classified as Green List (High Evidence).
Adult onset leukodystrophy v0.19 SNORD118 David Lynch reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 TYMP David Lynch reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 ZFYVE26 David Lynch reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 TYROBP David Lynch reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 TUBB4A David Lynch reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 TREX1 David Lynch reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 TREM2 David Lynch reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 SPG11 David Lynch reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 SAMHD1 David Lynch reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 RPS6KA3 David Lynch reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 RNF216 David Lynch reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 RNASET2 David Lynch reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 RNASEH2C David Lynch reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 RNASEH2B David Lynch reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 RNASEH2A David Lynch reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PTEN David Lynch reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PSAP David Lynch reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 POLR3B David Lynch reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 POLR3A David Lynch reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 POLR1C David Lynch reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PLP1 David Lynch reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX7 David Lynch reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX6 David Lynch reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX5 David Lynch reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX3 David Lynch reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX26 David Lynch reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX2 David Lynch reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX19 David Lynch reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX16 David Lynch reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX14 David Lynch reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX13 David Lynch reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX12 David Lynch reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX11B David Lynch reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX10 David Lynch reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX1 David Lynch reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PAH David Lynch reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 OCRL David Lynch reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 NOTCH3 David Lynch reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 MTHFR David Lynch reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 MCOLN1 David Lynch reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 MARS David Lynch reviewed gene: MARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 LMNB1 David Lynch reviewed gene: LMNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 L2HGDH David Lynch reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 KIF5A David Lynch reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 HTRA1 David Lynch reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 HMGCL David Lynch reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 HEXA David Lynch reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 HEPACAM David Lynch reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GLB1 David Lynch reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GLA David Lynch reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GJC2 David Lynch reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GJB1 David Lynch reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GJA1 David Lynch reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GFAP David Lynch reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GBE1 David Lynch reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GALC David Lynch reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 EIF2B5 David Lynch reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 EIF2B4 David Lynch reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 EIF2B3 David Lynch reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 EIF2B2 David Lynch reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 EIF2B1 David Lynch reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 EARS2 David Lynch reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 DARS2 David Lynch reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 DARS David Lynch reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 CYP27A1 David Lynch reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 CTSA David Lynch reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 CTC1 David Lynch reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 CSF1R David Lynch reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 COL4A2 David Lynch reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 COL4A1 David Lynch reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 CLCN2 David Lynch reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 ARSA David Lynch reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 ALDH3A2 David Lynch reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 ADAR David Lynch reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 ABCD1 David Lynch reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 AARS2 David Lynch reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 AARS David Lynch reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.18 TYMP Louise Daugherty gene: TYMP was added
gene: TYMP was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYMP were set to 9924029; 12177387; 14757860; 16178026
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041; Leukoencephalopathy
Review for gene: TYMP was set to GREEN
Added comment: New green gene recommended by external expert David Lynch UCL Institute of Neurology
Sources: Expert list
Adult onset leukodystrophy v0.17 SNORD118 Louise Daugherty gene: SNORD118 was added
gene: SNORD118 was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNORD118 were set to 27571260
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts, 614561
Review for gene: SNORD118 was set to GREEN
Added comment: New green gene recommended by external expert David Lynch UCL Institute of Neurology
Sources: Expert list
Adult onset leukodystrophy v0.16 Louise Daugherty List of related panels changed from to R62
Adult onset leukodystrophy v0.15 MARS Louise Daugherty Tag new-gene-name tag was added to gene: MARS.
Adult onset leukodystrophy v0.15 MARS Louise Daugherty commented on gene: MARS: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1
Adult onset leukodystrophy v0.15 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Adult onset leukodystrophy v0.15 AARS Louise Daugherty commented on gene: AARS: Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1
Adult onset leukodystrophy v0.15 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Adult onset leukodystrophy v0.15 DARS Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1
Adult onset leukodystrophy v0.15 ZFYVE26 Catherine Snow Mode of inheritance for gene ZFYVE26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
Adult onset leukodystrophy v0.15 TYROBP Catherine Snow Mode of inheritance for gene TYROBP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP
Adult onset leukodystrophy v0.15 TUBB4A Catherine Snow Mode of inheritance for gene TUBB4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Leukodystrophy, hypomyelinating, 6, 612438 for gene: TUBB4A
Adult onset leukodystrophy v0.15 TREX1 Catherine Snow Mode of inheritance for gene TREX1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 for gene: TREX1
Adult onset leukodystrophy v0.15 TREM2 Catherine Snow Mode of inheritance for gene TREM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 for gene: TREM2
Adult onset leukodystrophy v0.15 SPG11 Catherine Snow Mode of inheritance for gene SPG11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2X, 616668 for gene: SPG11
Adult onset leukodystrophy v0.15 SAMHD1 Catherine Snow Mode of inheritance for gene SAMHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 5, 612952 for gene: SAMHD1
Adult onset leukodystrophy v0.15 RPS6KA3 Catherine Snow Mode of inheritance for gene RPS6KA3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Coffin-Lowry syndrome, 303600 for gene: RPS6KA3
Adult onset leukodystrophy v0.15 RNF216 Catherine Snow Mode of inheritance for gene RNF216 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 for gene: RNF216
Adult onset leukodystrophy v0.15 RNASET2 Catherine Snow Mode of inheritance for gene RNASET2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 for gene: RNASET2
Adult onset leukodystrophy v0.15 RNASEH2C Catherine Snow Mode of inheritance for gene RNASEH2C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 3, 610329 for gene: RNASEH2C
Adult onset leukodystrophy v0.15 RNASEH2B Catherine Snow Mode of inheritance for gene RNASEH2B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 2, 610181 for gene: RNASEH2B
Adult onset leukodystrophy v0.15 RNASEH2A Catherine Snow Mode of inheritance for gene RNASEH2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 4, 610333 for gene: RNASEH2A
Adult onset leukodystrophy v0.15 PTEN Catherine Snow Mode of inheritance for gene PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.15 PSAP Catherine Snow Mode of inheritance for gene PSAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Krabbe disease, atypical, 611722; Metachromatic leukodystrophy due to SAP-b deficiency, 249900 for gene: PSAP
Adult onset leukodystrophy v0.15 POLR3B Catherine Snow Mode of inheritance for gene POLR3B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 for gene: POLR3B
Adult onset leukodystrophy v0.15 POLR3A Catherine Snow Mode of inheritance for gene POLR3A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 for gene: POLR3A
Adult onset leukodystrophy v0.15 POLR1C Catherine Snow Mode of inheritance for gene POLR1C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukodystrophy, hypomyelinating, 11 for gene: POLR1C
Adult onset leukodystrophy v0.15 PLP1 Catherine Snow Mode of inheritance for gene PLP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Pelizaeus-Merzbacher disease, 312080 for gene: PLP1
Adult onset leukodystrophy v0.15 PEX7 Catherine Snow Mode of inheritance for gene PEX7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 9B, 614879 for gene: PEX7
Adult onset leukodystrophy v0.15 PEX6 Catherine Snow Mode of inheritance for gene PEX6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 4B, 614863; Peroxisome biogenesis disorder 4A (Zellweger), 614862 for gene: PEX6
Adult onset leukodystrophy v0.15 PEX5 Catherine Snow Mode of inheritance for gene PEX5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 2B, 202370; Peroxisome biogenesis disorder 2A (Zellweger), 214110 for gene: PEX5
Adult onset leukodystrophy v0.15 PEX3 Catherine Snow Mode of inheritance for gene PEX3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Peroxisome biogenesis disorder 10B, 617370; Peroxisome biogenesis disorder 10A (Zellweger), 614882 for gene: PEX3
Adult onset leukodystrophy v0.15 PEX26 Catherine Snow Mode of inheritance for gene PEX26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 7B, 614873; Peroxisome biogenesis disorder 7A (Zellweger), 614872 for gene: PEX26
Adult onset leukodystrophy v0.15 PEX2 Catherine Snow Mode of inheritance for gene PEX2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 5A (Zellweger) 614866; Peroxisome biogenesis disorder 5B, 614867 for gene: PEX2
Adult onset leukodystrophy v0.15 PEX19 Catherine Snow Mode of inheritance for gene PEX19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 for gene: PEX19
Adult onset leukodystrophy v0.15 PEX16 Catherine Snow Mode of inheritance for gene PEX16 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 8B, 614877; Peroxisome biogenesis disorder 8A (Zellweger), 614876 for gene: PEX16
Adult onset leukodystrophy v0.15 PEX14 Catherine Snow Mode of inheritance for gene PEX14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 13A (Zellweger), 614887 for gene: PEX14
Adult onset leukodystrophy v0.15 PEX13 Catherine Snow Mode of inheritance for gene PEX13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 11A (Zellweger), 614883; Peroxisome biogenesis disorder 11B, 614885 for gene: PEX13
Adult onset leukodystrophy v0.15 PEX12 Catherine Snow Mode of inheritance for gene PEX12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 3A, 614859; Peroxisome biogenesis disorder 3B, 266510 for gene: PEX12
Adult onset leukodystrophy v0.15 PEX11B Catherine Snow Mode of inheritance for gene PEX11B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Peroxisome biogenesis disorder 14B, 614920 for gene: PEX11B
Adult onset leukodystrophy v0.15 PEX10 Catherine Snow Mode of inheritance for gene PEX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 6B, 614871 for gene: PEX10
Adult onset leukodystrophy v0.15 PEX1 Catherine Snow Mode of inheritance for gene PEX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 for gene: PEX1
Adult onset leukodystrophy v0.15 PAH Catherine Snow Mode of inheritance for gene PAH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600 for gene: PAH
Adult onset leukodystrophy v0.15 OCRL Catherine Snow Mode of inheritance for gene OCRL was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Lowe syndrome, 309000 for gene: OCRL
Adult onset leukodystrophy v0.15 NOTCH3 Catherine Snow Mode of inheritance for gene NOTCH3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 for gene: NOTCH3
Adult onset leukodystrophy v0.15 MTHFR Catherine Snow Mode of inheritance for gene MTHFR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 for gene: MTHFR
Adult onset leukodystrophy v0.15 MCOLN1 Catherine Snow Mode of inheritance for gene MCOLN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mucolipidosis IV, 252650 for gene: MCOLN1
Adult onset leukodystrophy v0.15 MARS Catherine Snow Mode of inheritance for gene MARS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2U, 616280 for gene: MARS
Adult onset leukodystrophy v0.15 LMNB1 Catherine Snow Mode of inheritance for gene LMNB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Leukodystrophy, adult-onset, autosomal dominant, 169500 for gene: LMNB1
Adult onset leukodystrophy v0.15 L2HGDH Catherine Snow Mode of inheritance for gene L2HGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH
Adult onset leukodystrophy v0.15 KIF5A Catherine Snow Mode of inheritance for gene KIF5A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Hereditaryspastic paraplegia for gene: KIF5A
Adult onset leukodystrophy v0.15 HTRA1 Catherine Snow Mode of inheritance for gene HTRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 for gene: HTRA1
Adult onset leukodystrophy v0.15 HMGCL Catherine Snow Mode of inheritance for gene HMGCL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes HMG-CoA lyase deficiency, 246450 for gene: HMGCL
Adult onset leukodystrophy v0.15 HEXA Catherine Snow Mode of inheritance for gene HEXA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800 for gene: HEXA
Adult onset leukodystrophy v0.15 HEPACAM Catherine Snow Mode of inheritance for gene HEPACAM was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 for gene: HEPACAM
Adult onset leukodystrophy v0.15 GLB1 Catherine Snow Mode of inheritance for gene GLB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes white matter abnormality for gene: GLB1
Adult onset leukodystrophy v0.15 GLA Catherine Snow Mode of inheritance for gene GLA was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Fabry disease, Fabry disease, cardiac variant, 301500 for gene: GLA
Adult onset leukodystrophy v0.15 GJC2 Catherine Snow Mode of inheritance for gene GJC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukodystrophy, hypomyelinating, 2, 608804, for gene: GJC2
Adult onset leukodystrophy v0.15 GJB1 Catherine Snow Mode of inheritance for gene GJB1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 for gene: GJB1
Adult onset leukodystrophy v0.15 GJA1 Catherine Snow Mode of inheritance for gene GJA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 for gene: GJA1
Adult onset leukodystrophy v0.15 GFAP Catherine Snow Mode of inheritance for gene GFAP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Alexander disease, 203450 for gene: GFAP
Adult onset leukodystrophy v0.15 GBE1 Catherine Snow Mode of inheritance for gene GBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Polyglucosan body disease, adult form, 263570 for gene: GBE1
Adult onset leukodystrophy v0.15 GALC Catherine Snow Mode of inheritance for gene GALC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Krabbe disease, 245200 for gene: GALC
Adult onset leukodystrophy v0.15 EIF2B5 Catherine Snow Mode of inheritance for gene EIF2B5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B5
Adult onset leukodystrophy v0.15 EIF2B4 Catherine Snow Mode of inheritance for gene EIF2B4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B4
Adult onset leukodystrophy v0.15 EIF2B3 Catherine Snow Mode of inheritance for gene EIF2B3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B3
Adult onset leukodystrophy v0.15 EIF2B2 Catherine Snow Mode of inheritance for gene EIF2B2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy, 603896 for gene: EIF2B2
Adult onset leukodystrophy v0.15 EIF2B1 Catherine Snow Mode of inheritance for gene EIF2B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1
Adult onset leukodystrophy v0.15 EARS2 Catherine Snow Mode of inheritance for gene EARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924 for gene: EARS2
Adult onset leukodystrophy v0.15 DARS2 Catherine Snow Mode of inheritance for gene DARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 for gene: DARS2
Adult onset leukodystrophy v0.15 DARS Catherine Snow Mode of inheritance for gene DARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
Adult onset leukodystrophy v0.15 CYP27A1 Catherine Snow Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
Adult onset leukodystrophy v0.15 CTSA Catherine Snow Mode of inheritance for gene CTSA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Galactosialidosis, 256540 for gene: CTSA
Adult onset leukodystrophy v0.15 CTC1 Catherine Snow Mode of inheritance for gene CTC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 for gene: CTC1
Adult onset leukodystrophy v0.15 CSF1R Catherine Snow Mode of inheritance for gene CSF1R was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 for gene: CSF1R
Adult onset leukodystrophy v0.15 COL4A2 Catherine Snow Mode of inheritance for gene COL4A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Brain small vessel disease 2, 614483 for gene: COL4A2
Adult onset leukodystrophy v0.15 COL4A1 Catherine Snow Mode of inheritance for gene COL4A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 175780 for gene: COL4A1
Adult onset leukodystrophy v0.15 CLCN2 Catherine Snow Mode of inheritance for gene CLCN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy with ataxia, 615651 for gene: CLCN2
Adult onset leukodystrophy v0.15 ARSA Catherine Snow Mode of inheritance for gene ARSA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA
Adult onset leukodystrophy v0.15 ALDH3A2 Catherine Snow Mode of inheritance for gene ALDH3A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sjogren-Larsson syndrome, 270200 for gene: ALDH3A2
Adult onset leukodystrophy v0.15 ADAR Catherine Snow Mode of inheritance for gene ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 6, 615010 for gene: ADAR
Adult onset leukodystrophy v0.15 ABCD1 Catherine Snow Mode of inheritance for gene ABCD1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100 for gene: ABCD1
Adult onset leukodystrophy v0.15 AARS2 Catherine Snow Mode of inheritance for gene AARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889 for gene: AARS2
Adult onset leukodystrophy v0.15 AARS Catherine Snow Mode of inheritance for gene AARS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287 for gene: AARS
Adult onset leukodystrophy v0.14 ZFYVE26 Catherine Snow reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, 270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 TYROBP Catherine Snow reviewed gene: TYROBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 TUBB4A Catherine Snow reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 6, 612438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 TREX1 Catherine Snow reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, 225750, Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 TREM2 Catherine Snow reviewed gene: TREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 SPG11 Catherine Snow reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 SAMHD1 Catherine Snow reviewed gene: SAMHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 RPS6KA3 Catherine Snow reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Coffin-Lowry syndrome, 303600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset leukodystrophy v0.14 RNF216 Catherine Snow reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and hypogonadotropic hypogonadism, 212840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 RNASET2 Catherine Snow reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy, cystic, without megalencephaly, 612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 RNASEH2C Catherine Snow reviewed gene: RNASEH2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 3, 610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 RNASEH2B Catherine Snow reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 2, 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 RNASEH2A Catherine Snow reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 4, 610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PTEN Catherine Snow reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 PSAP Catherine Snow reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Krabbe disease, atypical, 611722, Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 POLR3B Catherine Snow reviewed gene: POLR3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 POLR3A Catherine Snow reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 POLR1C Catherine Snow reviewed gene: POLR1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PLP1 Catherine Snow reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Pelizaeus-Merzbacher disease, 312080; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v0.14 PEX7 Catherine Snow reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 9B, 614879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX6 Catherine Snow reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger), 614862, Peroxisome biogenesis disorder 4B, 614863; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX5 Catherine Snow reviewed gene: PEX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), 214110, Peroxisome biogenesis disorder 2B, 202370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX3 Catherine Snow reviewed gene: PEX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Peroxisome biogenesis disorder 10B, 617370, Peroxisome biogenesis disorder 10A (Zellweger), 614882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX26 Catherine Snow reviewed gene: PEX26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger), 614872, Peroxisome biogenesis disorder 7B, 614873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX2 Catherine Snow reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), 614866, Peroxisome biogenesis disorder 5B, 614867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX19 Catherine Snow reviewed gene: PEX19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger), 614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX16 Catherine Snow reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger), 614876, Peroxisome biogenesis disorder 8B, 614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX14 Catherine Snow reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), 614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX13 Catherine Snow reviewed gene: PEX13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger), 614883, Peroxisome biogenesis disorder 11B, 614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX12 Catherine Snow reviewed gene: PEX12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A, 614859, Peroxisome biogenesis disorder 3B, 266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX11B Catherine Snow reviewed gene: PEX11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Peroxisome biogenesis disorder 14B, 614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX10 Catherine Snow reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6B, 614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX1 Catherine Snow reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 1B (NALD/IRD), 601539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PAH Catherine Snow reviewed gene: PAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 OCRL Catherine Snow reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Lowe syndrome, 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v0.14 NOTCH3 Catherine Snow reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 MTHFR Catherine Snow reviewed gene: MTHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria due to MTHFR deficiency, 236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 MCOLN1 Catherine Snow reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis IV, 252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 MARS Catherine Snow reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2U, 616280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 LMNB1 Catherine Snow reviewed gene: LMNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, adult-onset, autosomal dominant, 169500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 L2HGDH Catherine Snow reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: L-2-hydroxyglutaric aciduria, 236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 KIF5A Catherine Snow reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditaryspastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 HTRA1 Catherine Snow reviewed gene: HTRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: CARASIL syndrome, 600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 HMGCL Catherine Snow reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: HMG-CoA lyase deficiency, 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 HEXA Catherine Snow reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 HEPACAM Catherine Snow reviewed gene: HEPACAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 GLB1 Catherine Snow reviewed gene: GLB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: white matter abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 GLA Catherine Snow reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Fabry disease, Fabry disease, cardiac variant, 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v0.14 GJC2 Catherine Snow reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2, 608804, ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 GJB1 Catherine Snow reviewed gene: GJB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v0.14 GJA1 Catherine Snow reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 GFAP Catherine Snow reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Alexander disease, 203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 GBE1 Catherine Snow reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyglucosan body disease, adult form, 263570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 GALC Catherine Snow reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Krabbe disease, 245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 EIF2B5 Catherine Snow reviewed gene: EIF2B5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 EIF2B4 Catherine Snow reviewed gene: EIF2B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 EIF2B3 Catherine Snow reviewed gene: EIF2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 EIF2B2 Catherine Snow reviewed gene: EIF2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 EIF2B1 Catherine Snow reviewed gene: EIF2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 EARS2 Catherine Snow reviewed gene: EARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 12, 614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 DARS2 Catherine Snow reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 DARS Catherine Snow reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 CYP27A1 Catherine Snow reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 CTSA Catherine Snow reviewed gene: CTSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosialidosis, 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 CTC1 Catherine Snow reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 CSF1R Catherine Snow reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 COL4A2 Catherine Snow reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain small vessel disease 2, 614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 COL4A1 Catherine Snow reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773, Brain small vessel disease with or without ocular anomalies, 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 CLCN2 Catherine Snow reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with ataxia, 615651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 ARSA Catherine Snow reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Metachromatic leukodystrophy, 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 ALDH3A2 Catherine Snow reviewed gene: ALDH3A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Sjogren-Larsson syndrome, 270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 ADAR Catherine Snow reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 ABCD1 Catherine Snow reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v0.14 AARS2 Catherine Snow reviewed gene: AARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy, progressive, with ovarian failure, 615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 AARS Catherine Snow reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2N, 613287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.13 MTHFR Louise Daugherty Publications for gene: MTHFR were set to 27159321; 25527826; 28334938; 20301621; 24357685; 29391032
Adult onset leukodystrophy v0.12 MTHFR Louise Daugherty Publications for gene: MTHFR were set to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.10 ZFYVE26 Louise Daugherty reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 TYROBP Louise Daugherty reviewed gene: TYROBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 TUBB4A Louise Daugherty reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 TREX1 Louise Daugherty reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 TREM2 Louise Daugherty reviewed gene: TREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 SPG11 Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 SAMHD1 Louise Daugherty reviewed gene: SAMHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 RPS6KA3 Louise Daugherty reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 RNF216 Louise Daugherty reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 RNASET2 Louise Daugherty reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 RNASEH2C Louise Daugherty reviewed gene: RNASEH2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 RNASEH2B Louise Daugherty reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 RNASEH2A Louise Daugherty reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PTEN Louise Daugherty reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PSAP Louise Daugherty reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 POLR3B Louise Daugherty reviewed gene: POLR3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 POLR3A Louise Daugherty reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 POLR1C Louise Daugherty reviewed gene: POLR1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PLP1 Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PEX7 Louise Daugherty reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PEX6 Louise Daugherty reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PEX5 Louise Daugherty reviewed gene: PEX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PEX3 Louise Daugherty reviewed gene: PEX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PEX26 Louise Daugherty reviewed gene: PEX26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PEX2 Louise Daugherty reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PEX19 Louise Daugherty reviewed gene: PEX19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PEX16 Louise Daugherty reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PEX14 Louise Daugherty reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PEX13 Louise Daugherty reviewed gene: PEX13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PEX12 Louise Daugherty reviewed gene: PEX12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PEX11B Louise Daugherty reviewed gene: PEX11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PEX10 Louise Daugherty reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PEX1 Louise Daugherty reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 PAH Louise Daugherty reviewed gene: PAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 OCRL Louise Daugherty reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 NOTCH3 Louise Daugherty reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 MTHFR Louise Daugherty reviewed gene: MTHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 MCOLN1 Louise Daugherty reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 MARS Louise Daugherty reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 LMNB1 Louise Daugherty reviewed gene: LMNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 L2HGDH Louise Daugherty reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 KIF5A Louise Daugherty reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 HTRA1 Louise Daugherty reviewed gene: HTRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 HMGCL Louise Daugherty reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 HEXA Louise Daugherty reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 HEPACAM Louise Daugherty reviewed gene: HEPACAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 GLB1 Louise Daugherty reviewed gene: GLB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 GLA Louise Daugherty reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 GJC2 Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 GJB1 Louise Daugherty reviewed gene: GJB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 GJA1 Louise Daugherty reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 GFAP Louise Daugherty reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 GBE1 Louise Daugherty reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 GALC Louise Daugherty reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 EIF2B5 Louise Daugherty reviewed gene: EIF2B5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 EIF2B4 Louise Daugherty reviewed gene: EIF2B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 EIF2B3 Louise Daugherty reviewed gene: EIF2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 EIF2B2 Louise Daugherty reviewed gene: EIF2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 EIF2B1 Louise Daugherty reviewed gene: EIF2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 EARS2 Louise Daugherty reviewed gene: EARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 DARS2 Louise Daugherty reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 DARS Louise Daugherty reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 CYP27A1 Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 CTSA Louise Daugherty reviewed gene: CTSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 CTC1 Louise Daugherty reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 CSF1R Louise Daugherty reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 COL4A2 Louise Daugherty reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 COL4A1 Louise Daugherty reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 CLCN2 Louise Daugherty reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 ARSA Louise Daugherty reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 ALDH3A2 Louise Daugherty reviewed gene: ALDH3A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 ADAR Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 ABCD1 Louise Daugherty reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 AARS2 Louise Daugherty reviewed gene: AARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.10 AARS Louise Daugherty reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.9 ZFYVE26 Ian Berry reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 TYROBP Ian Berry reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 TUBB4A Ian Berry reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 TREX1 Ian Berry reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 TREM2 Ian Berry reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 SPG11 Ian Berry reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 SAMHD1 Ian Berry reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 RPS6KA3 Ian Berry reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 RNF216 Ian Berry reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 RNASET2 Ian Berry reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 RNASEH2C Ian Berry reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 RNASEH2B Ian Berry reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 RNASEH2A Ian Berry reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PTEN Ian Berry reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PSAP Ian Berry reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 POLR3B Ian Berry reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 POLR3A Ian Berry reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 POLR1C Ian Berry reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PLP1 Ian Berry reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PEX7 Ian Berry reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PEX6 Ian Berry reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PEX5 Ian Berry reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PEX3 Ian Berry reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PEX26 Ian Berry reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PEX2 Ian Berry reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PEX19 Ian Berry reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PEX16 Ian Berry reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PEX14 Ian Berry reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PEX13 Ian Berry reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PEX12 Ian Berry reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PEX11B Ian Berry reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PEX10 Ian Berry reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PEX1 Ian Berry reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 PAH Ian Berry reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 OCRL Ian Berry reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 NOTCH3 Ian Berry reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 MTHFR Ian Berry reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: 29391032; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 MCOLN1 Ian Berry reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 MARS Ian Berry reviewed gene: MARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 LMNB1 Ian Berry reviewed gene: LMNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 L2HGDH Ian Berry reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 KIF5A Ian Berry reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 HTRA1 Ian Berry reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 HMGCL Ian Berry reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 HEXA Ian Berry reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 HEPACAM Ian Berry reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 GLB1 Ian Berry reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 GLA Ian Berry reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 GJC2 Ian Berry reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 GJB1 Ian Berry reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 GJA1 Ian Berry reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 GFAP Ian Berry reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 GBE1 Ian Berry reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 GALC Ian Berry reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 EIF2B5 Ian Berry reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 EIF2B4 Ian Berry reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 EIF2B3 Ian Berry reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 EIF2B2 Ian Berry reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 EIF2B1 Ian Berry reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 EARS2 Ian Berry reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 DARS2 Ian Berry reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 DARS Ian Berry reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 CYP27A1 Ian Berry reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 CTSA Ian Berry reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 CTC1 Ian Berry reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 CSF1R Ian Berry reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 COL4A2 Ian Berry reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 COL4A1 Ian Berry reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 CLCN2 Ian Berry reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 ARSA Ian Berry reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 ALDH3A2 Ian Berry reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 ADAR Ian Berry reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 ABCD1 Ian Berry reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 AARS2 Ian Berry reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.9 AARS Ian Berry reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.8 ZFYVE26 Louise Daugherty Publications for gene ZFYVE26 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 TYROBP Louise Daugherty Publications for gene TYROBP were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 TUBB4A Louise Daugherty Publications for gene TUBB4A were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 TREX1 Louise Daugherty Publications for gene TREX1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 TREM2 Louise Daugherty Publications for gene TREM2 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 SPG11 Louise Daugherty Publications for gene SPG11 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 SAMHD1 Louise Daugherty Publications for gene SAMHD1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 RPS6KA3 Louise Daugherty Publications for gene RPS6KA3 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 RNF216 Louise Daugherty Publications for gene RNF216 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 RNASET2 Louise Daugherty Publications for gene RNASET2 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 RNASEH2C Louise Daugherty Publications for gene RNASEH2C were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 RNASEH2B Louise Daugherty Publications for gene RNASEH2B were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 RNASEH2A Louise Daugherty Publications for gene RNASEH2A were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PTEN Louise Daugherty Publications for gene PTEN were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PSAP Louise Daugherty Publications for gene PSAP were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 POLR3B Louise Daugherty Publications for gene POLR3B were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 POLR3A Louise Daugherty Publications for gene POLR3A were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 POLR1C Louise Daugherty Publications for gene POLR1C were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PLP1 Louise Daugherty Publications for gene PLP1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PEX7 Louise Daugherty Publications for gene PEX7 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PEX6 Louise Daugherty Publications for gene PEX6 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PEX5 Louise Daugherty Publications for gene PEX5 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PEX3 Louise Daugherty Publications for gene PEX3 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PEX26 Louise Daugherty Publications for gene PEX26 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PEX2 Louise Daugherty Publications for gene PEX2 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PEX19 Louise Daugherty Publications for gene PEX19 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PEX16 Louise Daugherty Publications for gene PEX16 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PEX14 Louise Daugherty Publications for gene PEX14 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PEX13 Louise Daugherty Publications for gene PEX13 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PEX12 Louise Daugherty Publications for gene PEX12 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PEX11B Louise Daugherty Publications for gene PEX11B were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PEX10 Louise Daugherty Publications for gene PEX10 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PEX1 Louise Daugherty Publications for gene PEX1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 PAH Louise Daugherty Publications for gene PAH were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 OCRL Louise Daugherty Publications for gene OCRL were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 NOTCH3 Louise Daugherty Publications for gene NOTCH3 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 MTHFR Louise Daugherty Publications for gene MTHFR were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 MCOLN1 Louise Daugherty Publications for gene MCOLN1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 MARS Louise Daugherty Publications for gene MARS were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 LMNB1 Louise Daugherty Publications for gene LMNB1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 L2HGDH Louise Daugherty Publications for gene L2HGDH were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 KIF5A Louise Daugherty Publications for gene KIF5A were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 HTRA1 Louise Daugherty Publications for gene HTRA1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 HMGCL Louise Daugherty Publications for gene HMGCL were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 HEXA Louise Daugherty Publications for gene HEXA were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 HEPACAM Louise Daugherty Publications for gene HEPACAM were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 GLB1 Louise Daugherty Publications for gene GLB1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 GLA Louise Daugherty Publications for gene GLA were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 GJC2 Louise Daugherty Publications for gene GJC2 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 GJB1 Louise Daugherty Publications for gene GJB1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 GJA1 Louise Daugherty Publications for gene GJA1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 GFAP Louise Daugherty Publications for gene GFAP were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 GBE1 Louise Daugherty Publications for gene GBE1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 GALC Louise Daugherty Publications for gene GALC were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 EIF2B5 Louise Daugherty Publications for gene EIF2B5 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 EIF2B4 Louise Daugherty Publications for gene EIF2B4 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 EIF2B3 Louise Daugherty Publications for gene EIF2B3 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 EIF2B2 Louise Daugherty Publications for gene EIF2B2 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 EIF2B1 Louise Daugherty Publications for gene EIF2B1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 EARS2 Louise Daugherty Publications for gene EARS2 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 DARS2 Louise Daugherty Publications for gene DARS2 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 DARS Louise Daugherty Publications for gene DARS were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 CYP27A1 Louise Daugherty Publications for gene CYP27A1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 CTSA Louise Daugherty Publications for gene CTSA were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 CTC1 Louise Daugherty Publications for gene CTC1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 CSF1R Louise Daugherty Publications for gene CSF1R were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 COL4A2 Louise Daugherty Publications for gene COL4A2 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 COL4A1 Louise Daugherty Publications for gene COL4A1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 CLCN2 Louise Daugherty Publications for gene CLCN2 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 ARSA Louise Daugherty Publications for gene ARSA were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 ALDH3A2 Louise Daugherty Publications for gene ALDH3A2 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 ADAR Louise Daugherty Publications for gene ADAR were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 ABCD1 Louise Daugherty Publications for gene ABCD1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 AARS2 Louise Daugherty Publications for gene AARS2 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.8 AARS Louise Daugherty Publications for gene AARS were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.7 ZFYVE26 Louise Daugherty Source Expert Review Green was added to ZFYVE26.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 TYROBP Louise Daugherty Source Expert Review Green was added to TYROBP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 TUBB4A Louise Daugherty Source Expert Review Green was added to TUBB4A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 TREX1 Louise Daugherty Source Expert Review Green was added to TREX1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 TREM2 Louise Daugherty Source Expert Review Green was added to TREM2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 SPG11 Louise Daugherty Source Expert Review Green was added to SPG11.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 SAMHD1 Louise Daugherty Source Expert Review Green was added to SAMHD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 RPS6KA3 Louise Daugherty Source Expert Review Green was added to RPS6KA3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 RNF216 Louise Daugherty Source Expert Review Green was added to RNF216.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 RNASET2 Louise Daugherty Source Expert Review Green was added to RNASET2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 RNASEH2C Louise Daugherty Source Expert Review Green was added to RNASEH2C.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 RNASEH2B Louise Daugherty Source Expert Review Green was added to RNASEH2B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 RNASEH2A Louise Daugherty Source Expert Review Green was added to RNASEH2A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PTEN Louise Daugherty Source Expert Review Green was added to PTEN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PSAP Louise Daugherty Source Expert Review Green was added to PSAP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 POLR3B Louise Daugherty Source Expert Review Green was added to POLR3B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 POLR3A Louise Daugherty Source Expert Review Green was added to POLR3A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 POLR1C Louise Daugherty Source Expert Review Green was added to POLR1C.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PLP1 Louise Daugherty Source Expert Review Green was added to PLP1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PEX7 Louise Daugherty Source Expert Review Green was added to PEX7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PEX6 Louise Daugherty Source Expert Review Green was added to PEX6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PEX5 Louise Daugherty Source Expert Review Green was added to PEX5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PEX3 Louise Daugherty Source Expert Review Green was added to PEX3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PEX26 Louise Daugherty Source Expert Review Green was added to PEX26.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PEX2 Louise Daugherty Source Expert Review Green was added to PEX2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PEX19 Louise Daugherty Source Expert Review Green was added to PEX19.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PEX16 Louise Daugherty Source Expert Review Green was added to PEX16.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PEX14 Louise Daugherty Source Expert Review Green was added to PEX14.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PEX13 Louise Daugherty Source Expert Review Green was added to PEX13.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PEX12 Louise Daugherty Source Expert Review Green was added to PEX12.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PEX11B Louise Daugherty Source Expert Review Green was added to PEX11B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PEX10 Louise Daugherty Source Expert Review Green was added to PEX10.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PEX1 Louise Daugherty Source Expert Review Green was added to PEX1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 PAH Louise Daugherty Source Expert Review Green was added to PAH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 OCRL Louise Daugherty Source Expert Review Green was added to OCRL.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 NOTCH3 Louise Daugherty Source Expert Review Green was added to NOTCH3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 MTHFR Louise Daugherty Source Expert Review Green was added to MTHFR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 MCOLN1 Louise Daugherty Source Expert Review Green was added to MCOLN1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 MARS Louise Daugherty Source Expert Review Green was added to MARS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 LMNB1 Louise Daugherty Source Expert Review Green was added to LMNB1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 L2HGDH Louise Daugherty Source Expert Review Green was added to L2HGDH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 KIF5A Louise Daugherty Source Expert Review Green was added to KIF5A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 HTRA1 Louise Daugherty Source Expert Review Green was added to HTRA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 HMGCL Louise Daugherty Source Expert Review Green was added to HMGCL.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 HEXA Louise Daugherty Source Expert Review Green was added to HEXA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 HEPACAM Louise Daugherty Source Expert Review Green was added to HEPACAM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 GLB1 Louise Daugherty Source Expert Review Green was added to GLB1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 GLA Louise Daugherty Source Expert Review Green was added to GLA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 GJC2 Louise Daugherty Source Expert Review Green was added to GJC2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 GJB1 Louise Daugherty Source Expert Review Green was added to GJB1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 GJA1 Louise Daugherty Source Expert Review Green was added to GJA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 GFAP Louise Daugherty Source Expert Review Green was added to GFAP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 GBE1 Louise Daugherty Source Expert Review Green was added to GBE1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 GALC Louise Daugherty Source Expert Review Green was added to GALC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 EIF2B5 Louise Daugherty Source Expert Review Green was added to EIF2B5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 EIF2B4 Louise Daugherty Source Expert Review Green was added to EIF2B4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 EIF2B3 Louise Daugherty Source Expert Review Green was added to EIF2B3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 EIF2B2 Louise Daugherty Source Expert Review Green was added to EIF2B2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 EIF2B1 Louise Daugherty Source Expert Review Green was added to EIF2B1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 EARS2 Louise Daugherty Source Expert Review Green was added to EARS2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 DARS2 Louise Daugherty Source Expert Review Green was added to DARS2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 DARS Louise Daugherty Source Expert Review Green was added to DARS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 CYP27A1 Louise Daugherty Source Expert Review Green was added to CYP27A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 CTSA Louise Daugherty Source Expert Review Green was added to CTSA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 CTC1 Louise Daugherty Source Expert Review Green was added to CTC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 CSF1R Louise Daugherty Source Expert Review Green was added to CSF1R.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 COL4A2 Louise Daugherty Source Expert Review Green was added to COL4A2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 COL4A1 Louise Daugherty Source Expert Review Green was added to COL4A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 CLCN2 Louise Daugherty Source Expert Review Green was added to CLCN2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 ARSA Louise Daugherty Source Expert Review Green was added to ARSA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 ALDH3A2 Louise Daugherty Source Expert Review Green was added to ALDH3A2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 ADAR Louise Daugherty Source Expert Review Green was added to ADAR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 ABCD1 Louise Daugherty Source Expert Review Green was added to ABCD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 AARS2 Louise Daugherty Source Expert Review Green was added to AARS2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.7 AARS Louise Daugherty Source Expert Review Green was added to AARS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.6 ZFYVE26 Louise Daugherty Source NHS GMS was added to ZFYVE26.
Adult onset leukodystrophy v0.6 TYROBP Louise Daugherty Source NHS GMS was added to TYROBP.
Adult onset leukodystrophy v0.6 TUBB4A Louise Daugherty Source NHS GMS was added to TUBB4A.
Adult onset leukodystrophy v0.6 TREX1 Louise Daugherty Source NHS GMS was added to TREX1.
Adult onset leukodystrophy v0.6 TREM2 Louise Daugherty Source NHS GMS was added to TREM2.
Adult onset leukodystrophy v0.6 SPG11 Louise Daugherty Source NHS GMS was added to SPG11.
Adult onset leukodystrophy v0.6 SAMHD1 Louise Daugherty Source NHS GMS was added to SAMHD1.
Adult onset leukodystrophy v0.6 RPS6KA3 Louise Daugherty Source NHS GMS was added to RPS6KA3.
Adult onset leukodystrophy v0.6 RNF216 Louise Daugherty Source NHS GMS was added to RNF216.
Adult onset leukodystrophy v0.6 RNASET2 Louise Daugherty Source NHS GMS was added to RNASET2.
Adult onset leukodystrophy v0.6 RNASEH2C Louise Daugherty Source NHS GMS was added to RNASEH2C.
Adult onset leukodystrophy v0.6 RNASEH2B Louise Daugherty Source NHS GMS was added to RNASEH2B.
Adult onset leukodystrophy v0.6 RNASEH2A Louise Daugherty Source NHS GMS was added to RNASEH2A.
Adult onset leukodystrophy v0.6 PTEN Louise Daugherty Source NHS GMS was added to PTEN.
Adult onset leukodystrophy v0.6 PSAP Louise Daugherty Source NHS GMS was added to PSAP.
Adult onset leukodystrophy v0.6 POLR3B Louise Daugherty Source NHS GMS was added to POLR3B.
Adult onset leukodystrophy v0.6 POLR3A Louise Daugherty Source NHS GMS was added to POLR3A.
Adult onset leukodystrophy v0.6 POLR1C Louise Daugherty Source NHS GMS was added to POLR1C.
Adult onset leukodystrophy v0.6 PLP1 Louise Daugherty Source NHS GMS was added to PLP1.
Adult onset leukodystrophy v0.6 PEX7 Louise Daugherty Source NHS GMS was added to PEX7.
Adult onset leukodystrophy v0.6 PEX6 Louise Daugherty Source NHS GMS was added to PEX6.
Adult onset leukodystrophy v0.6 PEX5 Louise Daugherty Source NHS GMS was added to PEX5.
Adult onset leukodystrophy v0.6 PEX3 Louise Daugherty Source NHS GMS was added to PEX3.
Adult onset leukodystrophy v0.6 PEX26 Louise Daugherty Source NHS GMS was added to PEX26.
Adult onset leukodystrophy v0.6 PEX2 Louise Daugherty Source NHS GMS was added to PEX2.
Adult onset leukodystrophy v0.6 PEX19 Louise Daugherty Source NHS GMS was added to PEX19.
Adult onset leukodystrophy v0.6 PEX16 Louise Daugherty Source NHS GMS was added to PEX16.
Adult onset leukodystrophy v0.6 PEX14 Louise Daugherty Source NHS GMS was added to PEX14.
Adult onset leukodystrophy v0.6 PEX13 Louise Daugherty Source NHS GMS was added to PEX13.
Adult onset leukodystrophy v0.6 PEX12 Louise Daugherty Source NHS GMS was added to PEX12.
Adult onset leukodystrophy v0.6 PEX11B Louise Daugherty Source NHS GMS was added to PEX11B.
Adult onset leukodystrophy v0.6 PEX10 Louise Daugherty Source NHS GMS was added to PEX10.
Adult onset leukodystrophy v0.6 PEX1 Louise Daugherty Source NHS GMS was added to PEX1.
Adult onset leukodystrophy v0.6 PAH Louise Daugherty Source NHS GMS was added to PAH.
Adult onset leukodystrophy v0.6 OCRL Louise Daugherty Source NHS GMS was added to OCRL.
Adult onset leukodystrophy v0.6 NOTCH3 Louise Daugherty Source NHS GMS was added to NOTCH3.
Adult onset leukodystrophy v0.6 MTHFR Louise Daugherty Source NHS GMS was added to MTHFR.
Adult onset leukodystrophy v0.6 MCOLN1 Louise Daugherty Source NHS GMS was added to MCOLN1.
Adult onset leukodystrophy v0.6 MARS Louise Daugherty Source NHS GMS was added to MARS.
Adult onset leukodystrophy v0.6 LMNB1 Louise Daugherty Source NHS GMS was added to LMNB1.
Adult onset leukodystrophy v0.6 L2HGDH Louise Daugherty Source NHS GMS was added to L2HGDH.
Adult onset leukodystrophy v0.6 KIF5A Louise Daugherty Source NHS GMS was added to KIF5A.
Adult onset leukodystrophy v0.6 HTRA1 Louise Daugherty Source NHS GMS was added to HTRA1.
Adult onset leukodystrophy v0.6 HMGCL Louise Daugherty Source NHS GMS was added to HMGCL.
Adult onset leukodystrophy v0.6 HEXA Louise Daugherty Source NHS GMS was added to HEXA.
Adult onset leukodystrophy v0.6 HEPACAM Louise Daugherty Source NHS GMS was added to HEPACAM.
Adult onset leukodystrophy v0.6 GLB1 Louise Daugherty Source NHS GMS was added to GLB1.
Adult onset leukodystrophy v0.6 GLA Louise Daugherty Source NHS GMS was added to GLA.
Adult onset leukodystrophy v0.6 GJC2 Louise Daugherty Source NHS GMS was added to GJC2.
Adult onset leukodystrophy v0.6 GJB1 Louise Daugherty Source NHS GMS was added to GJB1.
Adult onset leukodystrophy v0.6 GJA1 Louise Daugherty Source NHS GMS was added to GJA1.
Adult onset leukodystrophy v0.6 GFAP Louise Daugherty Source NHS GMS was added to GFAP.
Adult onset leukodystrophy v0.6 GBE1 Louise Daugherty Source NHS GMS was added to GBE1.
Adult onset leukodystrophy v0.6 GALC Louise Daugherty Source NHS GMS was added to GALC.
Adult onset leukodystrophy v0.6 EIF2B5 Louise Daugherty Source NHS GMS was added to EIF2B5.
Adult onset leukodystrophy v0.6 EIF2B4 Louise Daugherty Source NHS GMS was added to EIF2B4.
Adult onset leukodystrophy v0.6 EIF2B3 Louise Daugherty Source NHS GMS was added to EIF2B3.
Adult onset leukodystrophy v0.6 EIF2B2 Louise Daugherty Source NHS GMS was added to EIF2B2.
Adult onset leukodystrophy v0.6 EIF2B1 Louise Daugherty Source NHS GMS was added to EIF2B1.
Adult onset leukodystrophy v0.6 EARS2 Louise Daugherty Source NHS GMS was added to EARS2.
Adult onset leukodystrophy v0.6 DARS2 Louise Daugherty Source NHS GMS was added to DARS2.
Adult onset leukodystrophy v0.6 DARS Louise Daugherty Source NHS GMS was added to DARS.
Adult onset leukodystrophy v0.6 CYP27A1 Louise Daugherty Source NHS GMS was added to CYP27A1.
Adult onset leukodystrophy v0.6 CTSA Louise Daugherty Source NHS GMS was added to CTSA.
Adult onset leukodystrophy v0.6 CTC1 Louise Daugherty Source NHS GMS was added to CTC1.
Adult onset leukodystrophy v0.6 CSF1R Louise Daugherty Source NHS GMS was added to CSF1R.
Adult onset leukodystrophy v0.6 COL4A2 Louise Daugherty Source NHS GMS was added to COL4A2.
Adult onset leukodystrophy v0.6 COL4A1 Louise Daugherty Source NHS GMS was added to COL4A1.
Adult onset leukodystrophy v0.6 CLCN2 Louise Daugherty Source NHS GMS was added to CLCN2.
Adult onset leukodystrophy v0.6 ARSA Louise Daugherty Source NHS GMS was added to ARSA.
Adult onset leukodystrophy v0.6 ALDH3A2 Louise Daugherty Source NHS GMS was added to ALDH3A2.
Adult onset leukodystrophy v0.6 ADAR Louise Daugherty Source NHS GMS was added to ADAR.
Adult onset leukodystrophy v0.6 ABCD1 Louise Daugherty Source NHS GMS was added to ABCD1.
Adult onset leukodystrophy v0.6 AARS2 Louise Daugherty Source NHS GMS was added to AARS2.
Adult onset leukodystrophy v0.6 AARS Louise Daugherty Source NHS GMS was added to AARS.
Adult onset leukodystrophy v0.5 ZFYVE26 Louise Daugherty gene: ZFYVE26 was added
gene: ZFYVE26 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: ZFYVE26 was set to
Adult onset leukodystrophy v0.5 TYROBP Louise Daugherty gene: TYROBP was added
gene: TYROBP was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: TYROBP was set to
Adult onset leukodystrophy v0.5 TUBB4A Louise Daugherty gene: TUBB4A was added
gene: TUBB4A was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: TUBB4A was set to
Adult onset leukodystrophy v0.5 TREX1 Louise Daugherty gene: TREX1 was added
gene: TREX1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: TREX1 was set to
Adult onset leukodystrophy v0.5 TREM2 Louise Daugherty gene: TREM2 was added
gene: TREM2 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: TREM2 was set to
Adult onset leukodystrophy v0.5 SPG11 Louise Daugherty gene: SPG11 was added
gene: SPG11 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: SPG11 was set to
Adult onset leukodystrophy v0.5 SAMHD1 Louise Daugherty gene: SAMHD1 was added
gene: SAMHD1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: SAMHD1 was set to
Adult onset leukodystrophy v0.5 RPS6KA3 Louise Daugherty gene: RPS6KA3 was added
gene: RPS6KA3 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: RPS6KA3 was set to
Adult onset leukodystrophy v0.5 RNF216 Louise Daugherty gene: RNF216 was added
gene: RNF216 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: RNF216 was set to
Adult onset leukodystrophy v0.5 RNASET2 Louise Daugherty gene: RNASET2 was added
gene: RNASET2 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: RNASET2 was set to
Adult onset leukodystrophy v0.5 RNASEH2C Louise Daugherty gene: RNASEH2C was added
gene: RNASEH2C was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: RNASEH2C was set to
Adult onset leukodystrophy v0.5 RNASEH2B Louise Daugherty gene: RNASEH2B was added
gene: RNASEH2B was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: RNASEH2B was set to
Adult onset leukodystrophy v0.5 RNASEH2A Louise Daugherty gene: RNASEH2A was added
gene: RNASEH2A was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: RNASEH2A was set to
Adult onset leukodystrophy v0.5 PTEN Louise Daugherty gene: PTEN was added
gene: PTEN was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PTEN was set to
Adult onset leukodystrophy v0.5 PSAP Louise Daugherty gene: PSAP was added
gene: PSAP was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PSAP was set to
Adult onset leukodystrophy v0.5 POLR3B Louise Daugherty gene: POLR3B was added
gene: POLR3B was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: POLR3B was set to
Adult onset leukodystrophy v0.5 POLR3A Louise Daugherty gene: POLR3A was added
gene: POLR3A was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: POLR3A was set to
Adult onset leukodystrophy v0.5 POLR1C Louise Daugherty gene: POLR1C was added
gene: POLR1C was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: POLR1C was set to
Adult onset leukodystrophy v0.5 PLP1 Louise Daugherty gene: PLP1 was added
gene: PLP1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PLP1 was set to
Adult onset leukodystrophy v0.5 PEX7 Louise Daugherty gene: PEX7 was added
gene: PEX7 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PEX7 was set to
Adult onset leukodystrophy v0.5 PEX6 Louise Daugherty gene: PEX6 was added
gene: PEX6 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PEX6 was set to
Adult onset leukodystrophy v0.5 PEX5 Louise Daugherty gene: PEX5 was added
gene: PEX5 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PEX5 was set to
Adult onset leukodystrophy v0.5 PEX3 Louise Daugherty gene: PEX3 was added
gene: PEX3 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PEX3 was set to
Adult onset leukodystrophy v0.5 PEX26 Louise Daugherty gene: PEX26 was added
gene: PEX26 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PEX26 was set to
Adult onset leukodystrophy v0.5 PEX2 Louise Daugherty gene: PEX2 was added
gene: PEX2 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PEX2 was set to
Adult onset leukodystrophy v0.5 PEX19 Louise Daugherty gene: PEX19 was added
gene: PEX19 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PEX19 was set to
Adult onset leukodystrophy v0.5 PEX16 Louise Daugherty gene: PEX16 was added
gene: PEX16 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PEX16 was set to
Adult onset leukodystrophy v0.5 PEX14 Louise Daugherty gene: PEX14 was added
gene: PEX14 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PEX14 was set to
Adult onset leukodystrophy v0.5 PEX13 Louise Daugherty gene: PEX13 was added
gene: PEX13 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PEX13 was set to
Adult onset leukodystrophy v0.5 PEX12 Louise Daugherty gene: PEX12 was added
gene: PEX12 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PEX12 was set to
Adult onset leukodystrophy v0.5 PEX11B Louise Daugherty gene: PEX11B was added
gene: PEX11B was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PEX11B was set to
Adult onset leukodystrophy v0.5 PEX10 Louise Daugherty gene: PEX10 was added
gene: PEX10 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PEX10 was set to
Adult onset leukodystrophy v0.5 PEX1 Louise Daugherty gene: PEX1 was added
gene: PEX1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PEX1 was set to
Adult onset leukodystrophy v0.5 PAH Louise Daugherty gene: PAH was added
gene: PAH was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: PAH was set to
Adult onset leukodystrophy v0.5 OCRL Louise Daugherty gene: OCRL was added
gene: OCRL was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: OCRL was set to
Adult onset leukodystrophy v0.5 NOTCH3 Louise Daugherty gene: NOTCH3 was added
gene: NOTCH3 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: NOTCH3 was set to
Adult onset leukodystrophy v0.5 MTHFR Louise Daugherty gene: MTHFR was added
gene: MTHFR was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: MTHFR was set to
Adult onset leukodystrophy v0.5 MCOLN1 Louise Daugherty gene: MCOLN1 was added
gene: MCOLN1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: MCOLN1 was set to
Adult onset leukodystrophy v0.5 MARS Louise Daugherty gene: MARS was added
gene: MARS was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: MARS was set to
Adult onset leukodystrophy v0.5 LMNB1 Louise Daugherty gene: LMNB1 was added
gene: LMNB1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: LMNB1 was set to
Adult onset leukodystrophy v0.5 L2HGDH Louise Daugherty gene: L2HGDH was added
gene: L2HGDH was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: L2HGDH was set to
Adult onset leukodystrophy v0.5 KIF5A Louise Daugherty gene: KIF5A was added
gene: KIF5A was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: KIF5A was set to
Adult onset leukodystrophy v0.5 HTRA1 Louise Daugherty gene: HTRA1 was added
gene: HTRA1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: HTRA1 was set to
Adult onset leukodystrophy v0.5 HMGCL Louise Daugherty gene: HMGCL was added
gene: HMGCL was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: HMGCL was set to
Adult onset leukodystrophy v0.5 HEXA Louise Daugherty gene: HEXA was added
gene: HEXA was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: HEXA was set to
Adult onset leukodystrophy v0.5 HEPACAM Louise Daugherty gene: HEPACAM was added
gene: HEPACAM was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: HEPACAM was set to
Adult onset leukodystrophy v0.5 GLB1 Louise Daugherty gene: GLB1 was added
gene: GLB1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: GLB1 was set to
Adult onset leukodystrophy v0.5 GLA Louise Daugherty gene: GLA was added
gene: GLA was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: GLA was set to
Adult onset leukodystrophy v0.5 GJC2 Louise Daugherty gene: GJC2 was added
gene: GJC2 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: GJC2 was set to
Adult onset leukodystrophy v0.5 GJB1 Louise Daugherty gene: GJB1 was added
gene: GJB1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: GJB1 was set to
Adult onset leukodystrophy v0.5 GJA1 Louise Daugherty gene: GJA1 was added
gene: GJA1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: GJA1 was set to
Adult onset leukodystrophy v0.5 GFAP Louise Daugherty gene: GFAP was added
gene: GFAP was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: GFAP was set to
Adult onset leukodystrophy v0.5 GBE1 Louise Daugherty gene: GBE1 was added
gene: GBE1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: GBE1 was set to
Adult onset leukodystrophy v0.5 GALC Louise Daugherty gene: GALC was added
gene: GALC was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: GALC was set to
Adult onset leukodystrophy v0.5 EIF2B5 Louise Daugherty gene: EIF2B5 was added
gene: EIF2B5 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: EIF2B5 was set to
Adult onset leukodystrophy v0.5 EIF2B4 Louise Daugherty gene: EIF2B4 was added
gene: EIF2B4 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: EIF2B4 was set to
Adult onset leukodystrophy v0.5 EIF2B3 Louise Daugherty gene: EIF2B3 was added
gene: EIF2B3 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: EIF2B3 was set to
Adult onset leukodystrophy v0.5 EIF2B2 Louise Daugherty gene: EIF2B2 was added
gene: EIF2B2 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: EIF2B2 was set to
Adult onset leukodystrophy v0.5 EIF2B1 Louise Daugherty gene: EIF2B1 was added
gene: EIF2B1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: EIF2B1 was set to
Adult onset leukodystrophy v0.5 EARS2 Louise Daugherty gene: EARS2 was added
gene: EARS2 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: EARS2 was set to
Adult onset leukodystrophy v0.5 DARS2 Louise Daugherty gene: DARS2 was added
gene: DARS2 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: DARS2 was set to
Adult onset leukodystrophy v0.5 DARS Louise Daugherty gene: DARS was added
gene: DARS was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: DARS was set to
Adult onset leukodystrophy v0.5 CYP27A1 Louise Daugherty gene: CYP27A1 was added
gene: CYP27A1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: CYP27A1 was set to
Adult onset leukodystrophy v0.5 CTSA Louise Daugherty gene: CTSA was added
gene: CTSA was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: CTSA was set to
Adult onset leukodystrophy v0.5 CTC1 Louise Daugherty gene: CTC1 was added
gene: CTC1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: CTC1 was set to
Adult onset leukodystrophy v0.5 CSF1R Louise Daugherty gene: CSF1R was added
gene: CSF1R was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: CSF1R was set to
Adult onset leukodystrophy v0.5 COL4A2 Louise Daugherty gene: COL4A2 was added
gene: COL4A2 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: COL4A2 was set to
Adult onset leukodystrophy v0.5 COL4A1 Louise Daugherty gene: COL4A1 was added
gene: COL4A1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: COL4A1 was set to
Adult onset leukodystrophy v0.5 CLCN2 Louise Daugherty gene: CLCN2 was added
gene: CLCN2 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: CLCN2 was set to
Adult onset leukodystrophy v0.5 ARSA Louise Daugherty gene: ARSA was added
gene: ARSA was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: ARSA was set to
Adult onset leukodystrophy v0.5 ALDH3A2 Louise Daugherty gene: ALDH3A2 was added
gene: ALDH3A2 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: ALDH3A2 was set to
Adult onset leukodystrophy v0.5 ADAR Louise Daugherty gene: ADAR was added
gene: ADAR was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: ADAR was set to
Adult onset leukodystrophy v0.5 ABCD1 Louise Daugherty gene: ABCD1 was added
gene: ABCD1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: ABCD1 was set to
Adult onset leukodystrophy v0.5 AARS2 Louise Daugherty gene: AARS2 was added
gene: AARS2 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: AARS2 was set to
Adult onset leukodystrophy v0.5 AARS Louise Daugherty gene: AARS was added
gene: AARS was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: AARS was set to
Adult onset leukodystrophy v0.2 Louise Daugherty Panel name changed from White matter disorders – adult onset to White matter disorders - adult onset
Adult onset leukodystrophy v0.0 Ellen McDonagh Added Panel White matter disorders – adult onset
Set panel types to: GMS Rare Disease