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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 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 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 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 v3.16 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 v3.8 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 v3.6 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 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 v3.5 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 v3.2 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 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 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 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 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 v2.45 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 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 v2.44 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 v2.43 TTR Sarah Leigh Mode of inheritance for gene: TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.37 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 v2.33 PSEN2 Sarah Leigh Mode of inheritance for gene: PSEN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.29 PSEN1 Sarah Leigh Mode of inheritance for gene: PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.26 PRNP Sarah Leigh Mode of inheritance for gene: PRNP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.21 GSN Sarah Leigh Mode of inheritance for gene: GSN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v2.10 CST3 Sarah Leigh Mode of inheritance for gene: CST3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.5 APP Arina Puzriakova Mode of inheritance for gene: APP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v2.3 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 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 v1.43 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 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 v1.36 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 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 v1.33 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 v1.30 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 v1.23 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 v1.22 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 v1.13 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 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 v1.11 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 v1.4 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 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 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 v0.15 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