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Lysosomal Storage Disorder v1.17 AP5B1 Bryony Thompson Marked gene: AP5B1 as ready
Lysosomal Storage Disorder v1.17 AP5B1 Bryony Thompson Gene: ap5b1 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v1.17 AP5B1 Bryony Thompson Classified gene: AP5B1 as Amber List (moderate evidence)
Lysosomal Storage Disorder v1.17 AP5B1 Bryony Thompson Gene: ap5b1 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v1.16 AP5B1 Bryony Thompson gene: AP5B1 was added
gene: AP5B1 was added to Lysosomal Storage Disorder. Sources: Literature
Mode of inheritance for gene: AP5B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP5B1 were set to 40081374
Phenotypes for gene: AP5B1 were set to Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related
Review for gene: AP5B1 was set to AMBER
Added comment: Currently only 2 unrelated cases with macular dystrophy (1 hom & 1 chet). The study also presents sufficient evidence for an association of another AP-5 complex gene (AP5Z1) with macular dystrophy. AP-5 complex proteins (AP5Z1, AP5M1, and AP5B1) display punctate localization in human RPE explants. The AP-5 complex containing AP5Z1, AP5M1, and AP5B1, is integral to lysosome function. AP-5 deficiency results in the accumulation of aberrant endolysosomes, which is a lysosome storage disorder.
Sources: Literature
Lysosomal Storage Disorder v1.15 AP5M1 Bryony Thompson Classified gene: AP5M1 as Green List (high evidence)
Lysosomal Storage Disorder v1.15 AP5M1 Bryony Thompson Gene: ap5m1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.14 AP5M1 Bryony Thompson gene: AP5M1 was added
gene: AP5M1 was added to Lysosomal Storage Disorder. Sources: Literature
Mode of inheritance for gene: AP5M1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP5M1 were set to 40081374
Phenotypes for gene: AP5M1 were set to Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related
Review for gene: AP5M1 was set to GREEN
Added comment: 3 unrelated cases with macular dystrophy and homozygous variants (2x nonsense & a missense). The study also presents sufficient evidence for an association of another AP-5 complex gene (AP5Z1) with macular dystrophy. AP-5 complex proteins (AP5Z1, AP5M1, and AP5B1) display punctate localization in human RPE explants. The AP-5 complex containing AP5Z1, AP5M1, and AP5B1, is integral to lysosome function. AP-5 deficiency results in the accumulation of aberrant endolysosomes, which is a lysosome storage disorder.
Sources: Literature
Lysosomal Storage Disorder v1.13 AP5Z1 Bryony Thompson Marked gene: AP5Z1 as ready
Lysosomal Storage Disorder v1.13 AP5Z1 Bryony Thompson Gene: ap5z1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.13 AP5Z1 Bryony Thompson reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40081374, 29381698, 26085577; Phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v1.13 SGMS1 Bryony Thompson Marked gene: SGMS1 as ready
Lysosomal Storage Disorder v1.13 SGMS1 Bryony Thompson Gene: sgms1 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v1.13 SGMS1 Bryony Thompson Classified gene: SGMS1 as Amber List (moderate evidence)
Lysosomal Storage Disorder v1.13 SGMS1 Bryony Thompson Gene: sgms1 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v1.12 SGMS1 Bryony Thompson Classified gene: SGMS1 as Amber List (moderate evidence)
Lysosomal Storage Disorder v1.12 SGMS1 Bryony Thompson Gene: sgms1 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v1.11 SGMS1 Mark Cleghorn gene: SGMS1 was added
gene: SGMS1 was added to Lysosomal Storage Disorder. Sources: Other
Mode of inheritance for gene: SGMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGMS1 were set to complex neurodevelopmental disorder MONDO:0100038
Penetrance for gene: SGMS1 were set to unknown
Review for gene: SGMS1 was set to AMBER
Added comment: SGMS1
Johannes Kopp, Charite Berlin
ESHG presentation 4/6/24, unpublished

Biallelic SGMS1 with novel metabolic disorder

Only 2 families (3 cases) reported
NDD, AbN cerebral myelination, SNHL, ichthyosis

Homozygous or compound het SGMS1 missense

Functional work to support role of SGMS1 in sphingolipid metabolism
Sources: Other
Lysosomal Storage Disorder v1.11 CTSC Bryony Thompson gene: CTSC was added
gene: CTSC was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 31282082; 29884839
Phenotypes for gene: CTSC were set to ectodermal dysplasia syndrome MONDO:0019287; Other disorders of complex molecule degradation
Lysosomal Storage Disorder v1.11 SCARB2 Bryony Thompson gene: SCARB2 was added
gene: SCARB2 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCARB2 were set to 26677510; 29884839
Phenotypes for gene: SCARB2 were set to action myoclonus-renal failure syndrome MONDO:0009699; Other disorders of complex molecule degradation
Lysosomal Storage Disorder v1.11 KCTD7 Bryony Thompson gene: KCTD7 was added
gene: KCTD7 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCTD7 were set to 36368077; 30295347; 29884839
Phenotypes for gene: KCTD7 were set to Progressive myoclonus epilepsy MONDO:0020074; Neuronal ceroid lipofuscinosis
Lysosomal Storage Disorder v1.11 GRN Bryony Thompson gene: GRN was added
gene: GRN was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: GRN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRN were set to 37981505; 38347588; 29884839
Phenotypes for gene: GRN were set to neuronal ceroid lipofuscinosis MONDO:0016295; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842
Lysosomal Storage Disorder v1.11 RAB7A Bryony Thompson gene: RAB7A was added
gene: RAB7A was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB7A were set to 35159308; 36449254; 29884839
Phenotypes for gene: RAB7A were set to Disorders of autophagy; Charcot-Marie-Tooth disease type 2 MONDO:0018993
Lysosomal Storage Disorder v1.11 TBK1 Bryony Thompson gene: TBK1 was added
gene: TBK1 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: TBK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBK1 were set to 38168426; 38517332; 29884839
Phenotypes for gene: TBK1 were set to frontotemporal dementia with motor neuron disease MONDO:0017161; Disorders of autophagy
Lysosomal Storage Disorder v1.11 TECPR2 Bryony Thompson gene: TECPR2 was added
gene: TECPR2 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 33213269; 34130600; 29884839
Phenotypes for gene: TECPR2 were set to Disorders of autophagy; hereditary spastic paraplegia 49 MONDO:0014016
Lysosomal Storage Disorder v1.11 AP5Z1 Bryony Thompson gene: AP5Z1 was added
gene: AP5Z1 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP5Z1 were set to 26085577; 29884839
Phenotypes for gene: AP5Z1 were set to Disorders of autophagy; hereditary spastic paraplegia MONDO:0019064
Lysosomal Storage Disorder v1.11 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to 36029068; 34130600; 29884839
Phenotypes for gene: ZFYVE26 were set to Disorders of autophagy; hereditary spastic paraplegia 15 MONDO:0010044
Lysosomal Storage Disorder v1.11 SPG11 Bryony Thompson gene: SPG11 was added
gene: SPG11 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 37871017; 37709208; 29884839
Phenotypes for gene: SPG11 were set to Disorders of autophagy; hereditary spastic paraplegia 11 MONDO:0011445
Lysosomal Storage Disorder v1.11 SNX14 Bryony Thompson gene: SNX14 was added
gene: SNX14 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX14 were set to 34130600; 29884839
Phenotypes for gene: SNX14 were set to Disorders of autophagy; autosomal recessive spinocerebellar ataxia 20 MONDO:0014601
Lysosomal Storage Disorder v1.11 WDR45 Bryony Thompson gene: WDR45 was added
gene: WDR45 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: WDR45 were set to 38465922; 29884839
Phenotypes for gene: WDR45 were set to Disorders of autophagy; X-linked complex neurodevelopmental disorder MONDO:0100148
Lysosomal Storage Disorder v1.11 EPG5 Bryony Thompson gene: EPG5 was added
gene: EPG5 was added to Lysosomal Storage Disorder. Sources: Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 33674710; 34130600; 29884839
Phenotypes for gene: EPG5 were set to Disorders of autophagy; Vici syndrome MONDO:0009452
Lysosomal Storage Disorder v1.10 Zornitza Stark HPO terms changed from to Lysosomal storage disorder, MONDO:0002561; Visceromegaly, HP:0003271
List of related panels changed from to Lysosomal storage disorder; MONDO:0002561; Visceromegaly; HP:0003271
Lysosomal Storage Disorder v1.9 IDS Zornitza Stark Tag treatable tag was added to gene: IDS.
Lysosomal Storage Disorder v1.9 IDS Zornitza Stark Mode of inheritance for gene: IDS was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Lysosomal Storage Disorder v1.8 IDS Zornitza Stark Mode of inheritance for gene: IDS was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Lysosomal Storage Disorder v1.7 IDS Zornitza Stark edited their review of gene: IDS: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Lysosomal Storage Disorder v1.7 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
Lysosomal Storage Disorder v1.7 CTNS Zornitza Stark Tag treatable tag was added to gene: CTNS.
Lysosomal Storage Disorder v1.7 VPS33A Bryony Thompson Classified gene: VPS33A as Green List (high evidence)
Lysosomal Storage Disorder v1.7 VPS33A Bryony Thompson Gene: vps33a has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.6 VPS33A Bryony Thompson reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28013294, 27547915, 31936524, 36153662; Phenotypes: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v1.6 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Tag clinical trial tag was added to gene: ARSB.
Lysosomal Storage Disorder v1.6 MAN2B1 Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
Lysosomal Storage Disorder v1.6 LIPA Zornitza Stark Tag treatable tag was added to gene: LIPA.
Lysosomal Storage Disorder v1.6 ARSA Zornitza Stark Tag treatable tag was added to gene: ARSA.
Tag clinical trial tag was added to gene: ARSA.
Lysosomal Storage Disorder v1.6 VPS16 Ain Roesley Classified gene: VPS16 as Green List (high evidence)
Lysosomal Storage Disorder v1.6 VPS16 Ain Roesley Gene: vps16 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.6 VPS16 Ain Roesley Classified gene: VPS16 as Green List (high evidence)
Lysosomal Storage Disorder v1.6 VPS16 Ain Roesley Gene: vps16 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.6 VPS16 Ain Roesley Classified gene: VPS16 as Green List (high evidence)
Lysosomal Storage Disorder v1.6 VPS16 Ain Roesley Gene: vps16 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.5 VPS16 Ain Roesley Marked gene: VPS16 as ready
Lysosomal Storage Disorder v1.5 VPS16 Ain Roesley Gene: vps16 has been classified as Red List (Low Evidence).
Lysosomal Storage Disorder v1.5 VPS16 Ain Roesley gene: VPS16 was added
gene: VPS16 was added to Lysosomal Storage Disorder. Sources: Literature
Mode of inheritance for gene: VPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS16 were set to 33938619; 34013567; 34901436
Phenotypes for gene: VPS16 were set to mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365
Penetrance for gene: VPS16 were set to unknown
Review for gene: VPS16 was set to GREEN
gene: VPS16 was marked as current diagnostic
Added comment: for AR MPS:
3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys

RNA and functional studies done on the splice variant

also associated with AD dystonia
PMID:34901436 suggests dystonia is transcript specific
Sources: Literature
Lysosomal Storage Disorder v1.4 ARSK Zornitza Stark Marked gene: ARSK as ready
Lysosomal Storage Disorder v1.4 ARSK Zornitza Stark Gene: arsk has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.4 ARSK Zornitza Stark Phenotypes for gene: ARSK were changed from Mucopolysaccharidosis MONDO:0019249, ARSK-related to Mucopolysaccharidosis MONDO:0019249, ARSK-related
Lysosomal Storage Disorder v1.4 ARSK Zornitza Stark Phenotypes for gene: ARSK were changed from Mucopolysaccharidosis to Mucopolysaccharidosis MONDO:0019249, ARSK-related
Lysosomal Storage Disorder v1.3 ARSK Zornitza Stark Classified gene: ARSK as Green List (high evidence)
Lysosomal Storage Disorder v1.3 ARSK Zornitza Stark Gene: arsk has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.2 ARSK Paul De Fazio gene: ARSK was added
gene: ARSK was added to Lysosomal Storage Disorder. Sources: Literature
Mode of inheritance for gene: ARSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSK were set to 34916232; 32856704
Phenotypes for gene: ARSK were set to Mucopolysaccharidosis
Review for gene: ARSK was set to GREEN
gene: ARSK was marked as current diagnostic
Added comment: 4 individuals from 2 unrelated consanguineous families reported with a homozygous missense and an NMD-predicted nonsense variant, who had features of mucopolysaccharidosis such as short stature, coarse facial features and dysostosis multiplex. Urinary GAG excretion was normal by conventional methods, but LC-MS/MS in 2 individuals revealed an increase in specific dermatan sulfate-derived disaccharides. Functional studies showed reduced protein levels and reduced enzyme activity for the nonsense and missense variant respectively.

A mouse model also shows a mucopolysaccharidosis phenotype, albeit milder.

Rated green (2 families, functional evidence, mouse model).
Sources: Literature
Lysosomal Storage Disorder v1.2 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Lysosomal Storage Disorder v1.2 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v1.2 CLCN7 Zornitza Stark Classified gene: CLCN7 as Amber List (moderate evidence)
Lysosomal Storage Disorder v1.2 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v1.1 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Lysosomal Storage Disorder. Sources: Literature
Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCN7 were set to 31155284
Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541
Mode of pathogenicity for gene: CLCN7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CLCN7 was set to AMBER
Added comment: Two individuals reported with same missense variant and hypopigmentation, organomegaly, and delayed myelination and development. Variant is GoF. No osteopetrosis, biopsy findings from skin and other organs are consistent with a lysosomal storage disorder. IUGR, prematurity and polyhydramnios are features.

Bi-allelic variants in this gene are associated with osteopetrosis.
Sources: Literature
Lysosomal Storage Disorder v1.0 Zornitza Stark promoted panel to version 1.0
Lysosomal Storage Disorder v0.192 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Lysosomal Storage Disorder v0.192 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.192 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis, type I, MIM# 230500; GM1-gangliosidosis, type II, MIM# 230600; GM1-gangliosidosis, type III, MIM# 230650; Mucopolysaccharidosis type IVB (Morquio), MIM# 253010
Lysosomal Storage Disorder v0.191 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
Lysosomal Storage Disorder v0.190 GLB1 Zornitza Stark Mode of inheritance for gene: GLB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.189 GLB1 Zornitza Stark reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1907800, 1909089, 17309651, 11511921; Phenotypes: GM1-gangliosidosis, type I, MIM# 230500, GM1-gangliosidosis, type II, MIM# 230600, GM1-gangliosidosis, type III, MIM# 230650, Mucopolysaccharidosis type IVB (Morquio), MIM# 253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.189 SLC17A5 Zornitza Stark Tag founder tag was added to gene: SLC17A5.
Lysosomal Storage Disorder v0.189 SLC17A5 Zornitza Stark Marked gene: SLC17A5 as ready
Lysosomal Storage Disorder v0.189 SLC17A5 Zornitza Stark Gene: slc17a5 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.189 SLC17A5 Zornitza Stark Phenotypes for gene: SLC17A5 were changed from to Salla disease 604369; MONDO:0011449; Sialic acid storage disorder, infantile 269920; MONDO:0010027
Lysosomal Storage Disorder v0.188 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to
Lysosomal Storage Disorder v0.187 SLC17A5 Zornitza Stark Mode of inheritance for gene: SLC17A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.186 SLC17A5 Zornitza Stark reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10581036, 10947946; Phenotypes: Salla disease 604369, MONDO:0011449, Sialic acid storage disorder, infantile 269920, MONDO:0010027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.186 SGSH Zornitza Stark Marked gene: SGSH as ready
Lysosomal Storage Disorder v0.186 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.186 SGSH Zornitza Stark Phenotypes for gene: SGSH were changed from to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; MONDO:0009655
Lysosomal Storage Disorder v0.185 SGSH Zornitza Stark Publications for gene: SGSH were set to
Lysosomal Storage Disorder v0.184 SGSH Zornitza Stark Mode of inheritance for gene: SGSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.183 SGSH Zornitza Stark reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493035, 9158154, 9401012, 9554748; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.183 SMPD1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Niemann-Pick disease (NPD) refers to a group of disorders that present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement. Type A NPD patients exhibit hepatosplenomegaly in infancy and profound CNS involvement. They rarely survive beyond 2-3years of age. Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no CNS signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Intermediate patients also have been reported with mild to moderate neurological findings.

Well established gene-disease association.
Lysosomal Storage Disorder v0.183 SMPD1 Zornitza Stark edited their review of gene: SMPD1: Changed publications: 32292456, 32280632, 28164782
Lysosomal Storage Disorder v0.183 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Lysosomal Storage Disorder v0.183 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.183 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756; Niemann-Pick disease, type B, MIM# 607616; MONDO:0011871
Lysosomal Storage Disorder v0.182 SMPD1 Zornitza Stark Publications for gene: SMPD1 were set to
Lysosomal Storage Disorder v0.181 SMPD1 Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.180 SMPD1 Zornitza Stark reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756, Niemann-Pick disease, type B, MIM# 607616, MONDO:0011871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark changed review comment from: Over 300 families reported, mutational spectrum reviewed in PMID 31283065. Two known pathogenic variants, c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occurred in 60% of affected individuals in the sample, and accounted for 50% of disease-associated alleles.; to: Over 300 families reported, mutational spectrum reviewed in PMID 31283065. Two known pathogenic variants, c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occurred in 60% of affected individuals in the sample, and accounted for 50% of disease-associated alleles.

Clinical course is characterised by progressive neurological deterioration and seizures.
Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270; MONDO:0012235
Lysosomal Storage Disorder v0.179 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Lysosomal Storage Disorder v0.178 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.177 TPP1 Zornitza Stark reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9295267, 18684116, 23418007, 26224725, 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769, Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270, MONDO:0012235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.177 PSAP Zornitza Stark edited their review of gene: PSAP: Changed phenotypes: Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, MONDO:0012720, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, MONDO:0009590, Gaucher disease, atypical, MIM# 610539, MONDO:0012517
Lysosomal Storage Disorder v0.177 PSAP Zornitza Stark Marked gene: PSAP as ready
Lysosomal Storage Disorder v0.177 PSAP Zornitza Stark Gene: psap has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.177 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from to Combined SAP deficiency, MIM# 611721; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Krabbe disease, atypical, MIM# 611722; MONDO:0012720; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; MONDO:0009590; Gaucher disease, atypical, MIM# 610539; MONDO:0012517
Lysosomal Storage Disorder v0.176 PSAP Zornitza Stark Publications for gene: PSAP were set to
Lysosomal Storage Disorder v0.175 PSAP Zornitza Stark Mode of inheritance for gene: PSAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.174 PSAP Zornitza Stark reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 10682309, 1371116, 15773042, 31061751, 30632081; Phenotypes: Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, MONDO:0012720, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, MONDO:0009590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.174 PPT1 Zornitza Stark Marked gene: PPT1 as ready
Lysosomal Storage Disorder v0.174 PPT1 Zornitza Stark Gene: ppt1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.174 PPT1 Zornitza Stark Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; MONDO:0009744
Lysosomal Storage Disorder v0.173 PPT1 Zornitza Stark Publications for gene: PPT1 were set to
Lysosomal Storage Disorder v0.172 PPT1 Zornitza Stark Mode of inheritance for gene: PPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.171 PPT1 Zornitza Stark reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7637805, 9425237, 9664077; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, MIM# 256730, MONDO:0009744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.171 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Lysosomal Storage Disorder v0.171 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.171 NPC2 Zornitza Stark Phenotypes for gene: NPC2 were changed from to Niemann-pick disease, type C2, MIM# 607625; MONDO:0011873
Lysosomal Storage Disorder v0.170 NPC2 Zornitza Stark Publications for gene: NPC2 were set to
Lysosomal Storage Disorder v0.169 NPC2 Zornitza Stark Mode of inheritance for gene: NPC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.168 NPC2 Zornitza Stark reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11125141, 17470133; Phenotypes: Niemann-pick disease, type C2, MIM# 607625, MONDO:0011873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.168 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Lysosomal Storage Disorder v0.168 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.168 NPC1 Zornitza Stark Phenotypes for gene: NPC1 were changed from to Niemann-Pick disease, type C1 and type D, MIM# 257220; MONDO:0009757
Lysosomal Storage Disorder v0.167 NPC1 Zornitza Stark Publications for gene: NPC1 were set to
Lysosomal Storage Disorder v0.166 NPC1 Zornitza Stark Mode of inheritance for gene: NPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.165 NPC1 Zornitza Stark reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9211849, 11333381; Phenotypes: Niemann-Pick disease, type C1 and type D, MIM# 257220, MONDO:0009757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.165 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Lysosomal Storage Disorder v0.165 NEU1 Zornitza Stark Gene: neu1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.165 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from to Sialidosis, type I and type II, MIM# 256550; MONDO:0009738
Lysosomal Storage Disorder v0.164 NEU1 Zornitza Stark Publications for gene: NEU1 were set to
Lysosomal Storage Disorder v0.163 NEU1 Zornitza Stark Mode of inheritance for gene: NEU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.162 NEU1 Zornitza Stark reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8985184, 9054950, 11063730; Phenotypes: Sialidosis, type I and type II, MIM# 256550, MONDO:0009738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.162 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Lysosomal Storage Disorder v0.162 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.162 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; MONDO:0009656; Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; MONDO:0014665
Lysosomal Storage Disorder v0.161 NAGLU Zornitza Stark Publications for gene: NAGLU were set to
Lysosomal Storage Disorder v0.160 NAGLU Zornitza Stark Mode of inheritance for gene: NAGLU was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.159 NAGLU Zornitza Stark reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: 25818867, 8650226; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920, Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.159 NAGA Zornitza Stark Marked gene: NAGA as ready
Lysosomal Storage Disorder v0.159 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.159 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from to Kanzaki disease, MIM# 609242; Schindler disease, type I and type II 609241; alpha-N-acetylgalactosaminidase deficiency MONDO:0017779
Lysosomal Storage Disorder v0.158 NAGA Zornitza Stark Publications for gene: NAGA were set to
Lysosomal Storage Disorder v0.157 NAGA Zornitza Stark Mode of inheritance for gene: NAGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.156 NAGA Zornitza Stark reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Kanzaki disease, MIM# 609242, Schindler disease, type I and type II 609241, alpha-N-acetylgalactosaminidase deficiency MONDO:0017779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.156 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Lysosomal Storage Disorder v0.156 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.156 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588; Macular dystrophy with central cone involvement, MIM# 616170; MONDO:0014515
Lysosomal Storage Disorder v0.155 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Lysosomal Storage Disorder v0.154 MFSD8 Zornitza Stark Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.153 MFSD8 Zornitza Stark reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763, 25227500; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588, Macular dystrophy with central cone involvement, MIM# 616170, MONDO:0014515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.153 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV, MIM# 252650 to Mucolipidosis IV, MIM# 252650; MONDO:0009653
Lysosomal Storage Disorder v0.152 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Lysosomal Storage Disorder v0.152 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.152 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from to Mucolipidosis IV, MIM# 252650
Lysosomal Storage Disorder v0.151 MCOLN1 Zornitza Stark Mode of inheritance for gene: MCOLN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.150 MCOLN1 Zornitza Stark Tag SV/CNV tag was added to gene: MCOLN1.
Lysosomal Storage Disorder v0.150 MCOLN1 Zornitza Stark reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV, MIM# 252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.150 MANBA Zornitza Stark Marked gene: MANBA as ready
Lysosomal Storage Disorder v0.150 MANBA Zornitza Stark Gene: manba has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.150 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM# 248510; MONDO:0009562
Lysosomal Storage Disorder v0.149 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.148 MANBA Zornitza Stark reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, beta, MIM# 248510, MONDO:0009562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.148 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Lysosomal Storage Disorder v0.148 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.148 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561
Lysosomal Storage Disorder v0.147 MAN2B1 Zornitza Stark Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.146 MAN2B1 Zornitza Stark reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.146 LIPA Zornitza Stark Marked gene: LIPA as ready
Lysosomal Storage Disorder v0.146 LIPA Zornitza Stark Gene: lipa has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.146 LIPA Zornitza Stark Phenotypes for gene: LIPA were changed from to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000; Lysosomal acid lipase deficiency, MONDO:0010204
Lysosomal Storage Disorder v0.145 LIPA Zornitza Stark Publications for gene: LIPA were set to
Lysosomal Storage Disorder v0.144 LIPA Zornitza Stark Mode of inheritance for gene: LIPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.143 LIPA Zornitza Stark reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11487567; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000, Lysosomal acid lipase deficiency, MONDO:0010204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.143 LAMP2 Zornitza Stark edited their review of gene: LAMP2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Lysosomal Storage Disorder v0.143 LAMP2 Zornitza Stark changed review comment from: XLD. Vacuolar cardiomyopathy and myopathy. Gene encodes lysosome-associated membrane protein-2.; to: XLD. Gene encodes lysosome-associated membrane protein-2.

Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease) with 'normal acid maltase' or alpha-glucosidase, however, it may be more accurately classified as a lysosomal disorder.
Lysosomal Storage Disorder v0.143 LAMP2 Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Lysosomal Storage Disorder v0.142 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Lysosomal Storage Disorder v0.142 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.142 LAMP2 Zornitza Stark Phenotypes for gene: LAMP2 were changed from to Danon disease, MIM# 300257; MONDO:0010281
Lysosomal Storage Disorder v0.141 LAMP2 Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from Unknown to Other
Lysosomal Storage Disorder v0.140 LAMP2 Zornitza Stark changed review comment from: XLD. Vacuolar cardiomyopathy and myopathy.; to: XLD. Vacuolar cardiomyopathy and myopathy. Gene encodes lysosome-associated membrane protein-2.
Lysosomal Storage Disorder v0.140 LAMP2 Zornitza Stark reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease, MIM# 300257, MONDO:0010281; Mode of inheritance: Other
Lysosomal Storage Disorder v0.140 IDUA Zornitza Stark Marked gene: IDUA as ready
Lysosomal Storage Disorder v0.140 IDUA Zornitza Stark Gene: idua has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.140 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from to Mucopolysaccharidosis Ih, MIM# 607014; Mucopolysaccharidosis Ih/s, MIM# 607015; Mucopolysaccharidosis Is, MIM# 607016; Mucopolysaccharidosis type 1, MONDO:0001586
Lysosomal Storage Disorder v0.139 IDUA Zornitza Stark Mode of inheritance for gene: IDUA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.138 IDUA Zornitza Stark reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis Ih, MIM# 607014, Mucopolysaccharidosis Ih/s, MIM# 607015, Mucopolysaccharidosis Is, MIM# 607016, Mucopolysaccharidosis type 1, MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.138 IDS Zornitza Stark Marked gene: IDS as ready
Lysosomal Storage Disorder v0.138 IDS Zornitza Stark Gene: ids has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.138 IDS Zornitza Stark Phenotypes for gene: IDS were changed from to Mucopolysaccharidosis II, MIM# 309900; MONDO:0010674; Hunter syndrome
Lysosomal Storage Disorder v0.137 IDS Zornitza Stark Publications for gene: IDS were set to
Lysosomal Storage Disorder v0.136 IDS Zornitza Stark Mode of inheritance for gene: IDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.135 IDS Zornitza Stark reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921913, 9762601, 8940265, 1901826; Phenotypes: Mucopolysaccharidosis II, MIM# 309900, MONDO:0010674, Hunter syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.135 HYAL1 Zornitza Stark Marked gene: HYAL1 as ready
Lysosomal Storage Disorder v0.135 HYAL1 Zornitza Stark Gene: hyal1 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v0.135 HYAL1 Zornitza Stark Phenotypes for gene: HYAL1 were changed from to Mucopolysaccharidosis type IX, MIM# 601492; MONDO:0011093
Lysosomal Storage Disorder v0.134 HYAL1 Zornitza Stark Publications for gene: HYAL1 were set to
Lysosomal Storage Disorder v0.133 HYAL1 Zornitza Stark Mode of inheritance for gene: HYAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.132 HYAL1 Zornitza Stark Classified gene: HYAL1 as Amber List (moderate evidence)
Lysosomal Storage Disorder v0.132 HYAL1 Zornitza Stark Gene: hyal1 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v0.131 HYAL1 Zornitza Stark reviewed gene: HYAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 10339581, 18344557, 21559944; Phenotypes: Mucopolysaccharidosis type IX, MIM# 601492, MONDO:0011093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.131 HGSNAT Zornitza Stark Publications for gene: HGSNAT were set to 17033958; 25859010
Lysosomal Storage Disorder v0.130 HGSNAT Zornitza Stark edited their review of gene: HGSNAT: Changed publications: 17033958, 25859010, 19479962, 31228227, 20825431, 20583299
Lysosomal Storage Disorder v0.130 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Lysosomal Storage Disorder v0.130 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.130 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657; Retinitis pigmentosa 73, MIM# 616544; MONDO:0014687
Lysosomal Storage Disorder v0.129 HGSNAT Zornitza Stark Publications for gene: HGSNAT were set to
Lysosomal Storage Disorder v0.128 HGSNAT Zornitza Stark Mode of inheritance for gene: HGSNAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.127 HGSNAT Zornitza Stark reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033958, 25859010; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930, MONDO:0009657, Retinitis pigmentosa 73, MIM# 616544, MONDO:0014687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.127 HEXB Zornitza Stark changed review comment from: Well established gene-disease association.

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease. Weakness begins in the first 6 months of life. Startle reaction, early blindness, progressive neurological deterioration, doll-like face, cherry red spots, and macrocephaly are the typical clinical features.; to: Well established gene-disease association.

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease. Weakness begins in the first 6 months of life. Startle reaction, early blindness, progressive neurological deterioration, doll-like face, cherry red spots, and macrocephaly are the typical clinical features.

Later onset, milder disease presenting with neurological signs such as ataxia has also been described.
Lysosomal Storage Disorder v0.127 HEXB Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease. Weakness begins in the first 6 months of life. Startle reaction, early blindness, progressive neurological deterioration, doll-like face, cherry red spots, and macrocephaly are the typical clinical features.
Lysosomal Storage Disorder v0.127 HEXB Zornitza Stark Marked gene: HEXB as ready
Lysosomal Storage Disorder v0.127 HEXB Zornitza Stark Gene: hexb has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.127 HEXB Zornitza Stark Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800; MONDO:0010006
Lysosomal Storage Disorder v0.126 HEXB Zornitza Stark Mode of inheritance for gene: HEXB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.125 HEXB Zornitza Stark reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800, MONDO:0010006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.125 HEXA Zornitza Stark Marked gene: HEXA as ready
Lysosomal Storage Disorder v0.125 HEXA Zornitza Stark Gene: hexa has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.125 HEXA Zornitza Stark Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, MIM# 272800; Tay-Sachs disease, MIM# 272800; MONDO:0010100
Lysosomal Storage Disorder v0.124 HEXA Zornitza Stark Mode of inheritance for gene: HEXA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.123 HEXA Zornitza Stark reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GM2-gangliosidosis, several forms, MIM# 272800, Tay-Sachs disease, MIM# 272800, MONDO:0010100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.123 GUSB Zornitza Stark Marked gene: GUSB as ready
Lysosomal Storage Disorder v0.123 GUSB Zornitza Stark Gene: gusb has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.123 GUSB Zornitza Stark Phenotypes for gene: GUSB were changed from to Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662
Lysosomal Storage Disorder v0.122 GUSB Zornitza Stark Mode of inheritance for gene: GUSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.121 GUSB Zornitza Stark reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220, MONDO:0009662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.121 GNS Zornitza Stark Marked gene: GNS as ready
Lysosomal Storage Disorder v0.121 GNS Zornitza Stark Gene: gns has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.121 GNS Zornitza Stark Phenotypes for gene: GNS were changed from to Mucopolysaccharidosis type IIID, MIM# 252940; Sanfilippo syndrome type D, MONDO:0009658
Lysosomal Storage Disorder v0.120 GNS Zornitza Stark Publications for gene: GNS were set to
Lysosomal Storage Disorder v0.119 GNS Zornitza Stark Mode of inheritance for gene: GNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.118 GNS Zornitza Stark reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12573255, 12624138, 31536183, 25851924; Phenotypes: Mucopolysaccharidosis type IIID, MIM# 252940, Sanfilippo syndrome type D, MONDO:0009658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.118 GNPTG Zornitza Stark Marked gene: GNPTG as ready
Lysosomal Storage Disorder v0.118 GNPTG Zornitza Stark Gene: gnptg has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.118 GNPTG Zornitza Stark Phenotypes for gene: GNPTG were changed from to Mucolipidosis III gamma, MIM# 252605; MONDO:0009652
Lysosomal Storage Disorder v0.117 GNPTG Zornitza Stark Publications for gene: GNPTG were set to
Lysosomal Storage Disorder v0.116 GNPTG Zornitza Stark Mode of inheritance for gene: GNPTG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.115 GNPTG Zornitza Stark reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: None; Publications: 10712439, 19370764, 19659762, 33507475, 33023972, 32651481; Phenotypes: Mucolipidosis III gamma, MIM# 252605, MONDO:0009652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.115 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Lysosomal Storage Disorder v0.115 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.115 GNPTAB Zornitza Stark Phenotypes for gene: GNPTAB were changed from to Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931
Lysosomal Storage Disorder v0.114 GNPTAB Zornitza Stark Mode of inheritance for gene: GNPTAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.113 GNPTAB Zornitza Stark reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 16465621; Phenotypes: Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650, Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.113 GLA Zornitza Stark Marked gene: GLA as ready
Lysosomal Storage Disorder v0.113 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.113 GLA Zornitza Stark Phenotypes for gene: GLA were changed from Fabry disease, MIM# 301500 to Fabry disease, MIM# 301500; MONDO:0010526
Lysosomal Storage Disorder v0.112 GLA Zornitza Stark Phenotypes for gene: GLA were changed from to Fabry disease, MIM# 301500
Lysosomal Storage Disorder v0.111 GLA Zornitza Stark Publications for gene: GLA were set to
Lysosomal Storage Disorder v0.110 GLA Zornitza Stark Mode of inheritance for gene: GLA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Lysosomal Storage Disorder v0.109 GLA Zornitza Stark reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28613767, 33673160; Phenotypes: Fabry disease, MIM# 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Lysosomal Storage Disorder v0.109 GBA Zornitza Stark Marked gene: GBA as ready
Lysosomal Storage Disorder v0.109 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.109 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to Gaucher disease, perinatal lethal, MIM# 608013; Gaucher disease, type I, MIM# 230800; Gaucher disease, type II, MIM# 230900; Gaucher disease, type III, MIM# 231000; Gaucher disease, type IIIC, MIM# 231005
Lysosomal Storage Disorder v0.108 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.107 GBA Zornitza Stark reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, perinatal lethal, MIM# 608013, Gaucher disease, type I, MIM# 230800, Gaucher disease, type II, MIM# 230900, Gaucher disease, type III, MIM# 231000, Gaucher disease, type IIIC, MIM# 231005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.107 GALNS Zornitza Stark Marked gene: GALNS as ready
Lysosomal Storage Disorder v0.107 GALNS Zornitza Stark Gene: galns has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.107 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659
Lysosomal Storage Disorder v0.106 GALNS Zornitza Stark Publications for gene: GALNS were set to
Lysosomal Storage Disorder v0.105 GALNS Zornitza Stark Mode of inheritance for gene: GALNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.104 GALNS Zornitza Stark reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9298823; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.104 GALC Zornitza Stark Marked gene: GALC as ready
Lysosomal Storage Disorder v0.104 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.104 GALC Zornitza Stark Phenotypes for gene: GALC were changed from to Krabbe disease, MIM# 245200; MONDO:0009499
Lysosomal Storage Disorder v0.103 GALC Zornitza Stark Publications for gene: GALC were set to
Lysosomal Storage Disorder v0.102 GALC Zornitza Stark Mode of inheritance for gene: GALC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.101 GALC Zornitza Stark reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20886637; Phenotypes: Krabbe disease, MIM# 245200, MONDO:0009499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.101 GAA Zornitza Stark Marked gene: GAA as ready
Lysosomal Storage Disorder v0.101 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.101 GAA Zornitza Stark Phenotypes for gene: GAA were changed from to Glycogen storage disease II, MIM# 232300; MONDO:0009290
Lysosomal Storage Disorder v0.100 GAA Zornitza Stark Publications for gene: GAA were set to
Lysosomal Storage Disorder v0.99 GAA Zornitza Stark Mode of inheritance for gene: GAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.98 GAA Zornitza Stark reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 16917947; Phenotypes: Glycogen storage disease II, MIM# 232300, MONDO:0009290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.98 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Lysosomal Storage Disorder v0.98 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.98 FUCA1 Zornitza Stark Phenotypes for gene: FUCA1 were changed from to Fucosidosis, MIM# 230000; MONDO:0009254
Lysosomal Storage Disorder v0.97 FUCA1 Zornitza Stark Publications for gene: FUCA1 were set to
Lysosomal Storage Disorder v0.96 FUCA1 Zornitza Stark Mode of inheritance for gene: FUCA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.95 FUCA1 Zornitza Stark reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094192; Phenotypes: Fucosidosis, MIM# 230000, MONDO:0009254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.95 DNAJC5 Zornitza Stark Marked gene: DNAJC5 as ready
Lysosomal Storage Disorder v0.95 DNAJC5 Zornitza Stark Gene: dnajc5 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.95 DNAJC5 Zornitza Stark Publications for gene: DNAJC5 were set to
Lysosomal Storage Disorder v0.94 DNAJC5 Zornitza Stark Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350; MONDO:0008083
Lysosomal Storage Disorder v0.93 DNAJC5 Zornitza Stark Mode of inheritance for gene: DNAJC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lysosomal Storage Disorder v0.92 DNAJC5 Zornitza Stark reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21820099, 22073189, 22235333, 22978711; Phenotypes: Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lysosomal Storage Disorder v0.92 CTSD Zornitza Stark Marked gene: CTSD as ready
Lysosomal Storage Disorder v0.92 CTSD Zornitza Stark Gene: ctsd has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.92 CTSD Zornitza Stark Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; MONDO:0012414
Lysosomal Storage Disorder v0.91 CTSD Zornitza Stark Publications for gene: CTSD were set to
Lysosomal Storage Disorder v0.90 CTSD Zornitza Stark Mode of inheritance for gene: CTSD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.89 CTSD Zornitza Stark reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16685649, 16670177, 25298308, 33681191, 29284168, 27072142; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127, MONDO:0012414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.89 CLN8 Zornitza Stark Marked gene: CLN8 as ready
Lysosomal Storage Disorder v0.89 CLN8 Zornitza Stark Gene: cln8 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.89 CLN8 Zornitza Stark Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Lysosomal Storage Disorder v0.88 CLN8 Zornitza Stark Publications for gene: CLN8 were set to
Lysosomal Storage Disorder v0.87 CLN8 Zornitza Stark Mode of inheritance for gene: CLN8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.86 CLN8 Zornitza Stark Tag founder tag was added to gene: CLN8.
Lysosomal Storage Disorder v0.86 CLN8 Zornitza Stark reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: 10508524, 15024724, 16570191; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.86 CLN6 Zornitza Stark Marked gene: CLN6 as ready
Lysosomal Storage Disorder v0.86 CLN6 Zornitza Stark Gene: cln6 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.86 CLN6 Zornitza Stark Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300
Lysosomal Storage Disorder v0.85 CLN6 Zornitza Stark Publications for gene: CLN6 were set to
Lysosomal Storage Disorder v0.84 CLN6 Zornitza Stark Mode of inheritance for gene: CLN6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.83 CLN6 Zornitza Stark reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11791207, 11727201, 21549341; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.83 CLN5 Zornitza Stark Marked gene: CLN5 as ready
Lysosomal Storage Disorder v0.83 CLN5 Zornitza Stark Gene: cln5 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.83 CLN5 Zornitza Stark Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; MONDO:0009745
Lysosomal Storage Disorder v0.82 CLN5 Zornitza Stark Publications for gene: CLN5 were set to
Lysosomal Storage Disorder v0.81 CLN5 Zornitza Stark Mode of inheritance for gene: CLN5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.80 CLN5 Zornitza Stark reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 20157158; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731, MONDO:0009745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.80 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; MONDO:0008767
Lysosomal Storage Disorder v0.79 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Lysosomal Storage Disorder v0.79 CLN3 Zornitza Stark Gene: cln3 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.79 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
Lysosomal Storage Disorder v0.78 CLN3 Zornitza Stark Publications for gene: CLN3 were set to
Lysosomal Storage Disorder v0.77 CLN3 Zornitza Stark Mode of inheritance for gene: CLN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.76 CLN3 Zornitza Stark reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7553855; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.76 ARSB Zornitza Stark Marked gene: ARSB as ready
Lysosomal Storage Disorder v0.76 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.76 ARSB Zornitza Stark Phenotypes for gene: ARSB were changed from to Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; MONDO:0009661
Lysosomal Storage Disorder v0.75 ARSB Zornitza Stark Publications for gene: ARSB were set to
Lysosomal Storage Disorder v0.74 ARSB Zornitza Stark Mode of inheritance for gene: ARSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.73 ARSB Zornitza Stark reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 11668612; Phenotypes: Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200, MONDO:0009661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.73 ARSA Zornitza Stark Marked gene: ARSA as ready
Lysosomal Storage Disorder v0.73 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.73 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, MIM# 250100; MONDO:0009591
Lysosomal Storage Disorder v0.72 ARSA Zornitza Stark Mode of inheritance for gene: ARSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.71 ARSA Zornitza Stark reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100, MONDO:0009591; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.71 AGA Zornitza Stark Phenotypes for gene: AGA were changed from Aspartylglucosaminuria, MIM# 208400 to Aspartylglucosaminuria, MIM# 208400; MONDO:0008830
Lysosomal Storage Disorder v0.70 AGA Zornitza Stark Marked gene: AGA as ready
Lysosomal Storage Disorder v0.70 AGA Zornitza Stark Gene: aga has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.70 AGA Zornitza Stark Phenotypes for gene: AGA were changed from to Aspartylglucosaminuria, MIM# 208400
Lysosomal Storage Disorder v0.69 AGA Zornitza Stark Publications for gene: AGA were set to
Lysosomal Storage Disorder v0.68 AGA Zornitza Stark Mode of inheritance for gene: AGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.67 AGA Zornitza Stark reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1703489, 1904874, 8064811, 8946839; Phenotypes: Aspartylglucosaminuria, MIM# 208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.67 CTSA Zornitza Stark Marked gene: CTSA as ready
Lysosomal Storage Disorder v0.67 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.67 CTSA Zornitza Stark Phenotypes for gene: CTSA were changed from to Galactosialidosis, MIM# 256540
Lysosomal Storage Disorder v0.66 CTSA Zornitza Stark Publications for gene: CTSA were set to
Lysosomal Storage Disorder v0.65 CTSA Zornitza Stark Mode of inheritance for gene: CTSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.64 CTSA Zornitza Stark reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8514852, 8968752; Phenotypes: Galactosialidosis, MIM# 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.64 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Lysosomal Storage Disorder v0.64 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.64 HPS1 Zornitza Stark Classified gene: HPS1 as Green List (high evidence)
Lysosomal Storage Disorder v0.64 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.63 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Lysosomal Storage Disorder. Sources: Expert list
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, MIM# 203300
Review for gene: HPS1 was set to GREEN
Added comment: Well established gene-disease association. Gene product is involved in biogenesis of lysosomal organelles.
Sources: Expert list
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Classified gene: VIPAS39 as Green List (high evidence)
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.61 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Lysosomal Storage Disorder. Sources: Expert list
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VIPAS39 were set to 22753090; 26808426
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404
Review for gene: VIPAS39 was set to GREEN
Added comment: VIPAR is involved in intracellular sorting and trafficking of lysosomal proteins.

More than 5 unrelated families reported.
Sources: Expert list
Lysosomal Storage Disorder v0.60 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Lysosomal Storage Disorder v0.60 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.60 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Lysosomal Storage Disorder v0.60 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.59 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Lysosomal Storage Disorder. Sources: Expert list
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 16896922
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085
Review for gene: VPS33B was set to GREEN
Added comment: VPS proteins are involved in Golgi-to-lysosome trafficking.

More than 20 unrelated families reported.
Sources: Expert list
Lysosomal Storage Disorder v0.58 CLCN6 Zornitza Stark Publications for gene: CLCN6 were set to 25794116; 21107136; 33217309
Lysosomal Storage Disorder v0.57 CLCN6 Zornitza Stark Publications for gene: CLCN6 were set to 25794116; 21107136
Lysosomal Storage Disorder v0.57 CLCN6 Zornitza Stark Mode of pathogenicity for gene: CLCN6 was changed from to Other
Lysosomal Storage Disorder v0.56 CLCN6 Zornitza Stark Mode of inheritance for gene: CLCN6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lysosomal Storage Disorder v0.55 CLCN6 Zornitza Stark Classified gene: CLCN6 as Green List (high evidence)
Lysosomal Storage Disorder v0.55 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.54 CLCN6 Zornitza Stark edited their review of gene: CLCN6: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lysosomal Storage Disorder v0.54 CLCN6 Zornitza Stark edited their review of gene: CLCN6: Added comment: Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans.; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications: 25794116, 21107136, 33217309; Changed phenotypes: Neurodegeneration, Benign partial epilepsy, febrile seizures, NCL
Lysosomal Storage Disorder v0.54 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Lysosomal Storage Disorder v0.54 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.54 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from to Farber lipogranulomatosis, MIM# 228000
Lysosomal Storage Disorder v0.53 ASAH1 Zornitza Stark Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.52 ASAH1 Zornitza Stark reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Farber lipogranulomatosis, MIM# 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.52 CTSK Zornitza Stark Classified gene: CTSK as Green List (high evidence)
Lysosomal Storage Disorder v0.52 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.51 CTSK Zornitza Stark reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis, MIM# 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.51 Zornitza Stark removed gene:SLC2A2 from the panel
Lysosomal Storage Disorder v0.50 Zornitza Stark removed gene:KCTD7 from the panel
Lysosomal Storage Disorder v0.49 Zornitza Stark removed gene:GRN from the panel
Lysosomal Storage Disorder v0.48 GNE Zornitza Stark Marked gene: GNE as ready
Lysosomal Storage Disorder v0.48 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.48 GNE Zornitza Stark Classified gene: GNE as Green List (high evidence)
Lysosomal Storage Disorder v0.48 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.47 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to Lysosomal Storage Disorder. Sources: Expert list
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Nonaka myopathy, MIM# 605820
Review for gene: GNE was set to GREEN
Added comment: Myopathy characterised by rimmed vacuoles on biopsy.
Sources: Expert list
Lysosomal Storage Disorder v0.46 GM2A Zornitza Stark Marked gene: GM2A as ready
Lysosomal Storage Disorder v0.46 GM2A Zornitza Stark Gene: gm2a has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.46 GM2A Zornitza Stark Classified gene: GM2A as Green List (high evidence)
Lysosomal Storage Disorder v0.46 GM2A Zornitza Stark Gene: gm2a has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.45 GM2A Zornitza Stark gene: GM2A was added
gene: GM2A was added to Lysosomal Storage Disorder. Sources: Expert list
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant, MIM# 272750
Review for gene: GM2A was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Lysosomal Storage Disorder v0.44 Zornitza Stark removed gene:EPM2A from the panel
Lysosomal Storage Disorder v0.43 CTSF Zornitza Stark Marked gene: CTSF as ready
Lysosomal Storage Disorder v0.43 CTSF Zornitza Stark Gene: ctsf has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.43 CTSF Zornitza Stark Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362
Lysosomal Storage Disorder v0.42 CTSF Zornitza Stark Publications for gene: CTSF were set to
Lysosomal Storage Disorder v0.41 CTSF Zornitza Stark Mode of inheritance for gene: CTSF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.40 CTSF Zornitza Stark reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28749476, 27668283, 27524508; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.40 ATP13A2 Zornitza Stark Marked gene: ATP13A2 as ready
Lysosomal Storage Disorder v0.40 ATP13A2 Zornitza Stark Gene: atp13a2 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.40 ATP13A2 Zornitza Stark Phenotypes for gene: ATP13A2 were changed from to Spastic paraplegia 78, autosomal recessive 617225
Lysosomal Storage Disorder v0.39 ATP13A2 Zornitza Stark Publications for gene: ATP13A2 were set to
Lysosomal Storage Disorder v0.38 ATP13A2 Zornitza Stark Mode of inheritance for gene: ATP13A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.37 ATP13A2 Zornitza Stark reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28137957, 31996848; Phenotypes: Spastic paraplegia 78, autosomal recessive 617225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.37 Zornitza Stark removed gene:PYGM from the panel
Lysosomal Storage Disorder v0.36 Zornitza Stark removed gene:PYGL from the panel
Lysosomal Storage Disorder v0.35 Zornitza Stark removed gene:PRKAG2 from the panel
Lysosomal Storage Disorder v0.34 Zornitza Stark removed gene:PHKA2 from the panel
Lysosomal Storage Disorder v0.33 Zornitza Stark removed gene:PGM1 from the panel
Lysosomal Storage Disorder v0.32 Zornitza Stark removed gene:PGK1 from the panel
Lysosomal Storage Disorder v0.31 Zornitza Stark removed gene:PGAM2 from the panel
Lysosomal Storage Disorder v0.30 Zornitza Stark removed gene:PFKM from the panel
Lysosomal Storage Disorder v0.29 Zornitza Stark removed gene:LDHA from the panel
Lysosomal Storage Disorder v0.28 Zornitza Stark removed gene:GYS2 from the panel
Lysosomal Storage Disorder v0.27 Zornitza Stark removed gene:GYS1 from the panel
Lysosomal Storage Disorder v0.26 Zornitza Stark removed gene:GYG1 from the panel
Lysosomal Storage Disorder v0.25 Zornitza Stark removed gene:GBE1 from the panel
Lysosomal Storage Disorder v0.24 Zornitza Stark removed gene:G6PC from the panel
Lysosomal Storage Disorder v0.23 Zornitza Stark removed gene:ENO3 from the panel
Lysosomal Storage Disorder v0.22 Zornitza Stark removed gene:ALDOA from the panel
Lysosomal Storage Disorder v0.21 Zornitza Stark removed gene:AGL from the panel
Lysosomal Storage Disorder v0.20 Zornitza Stark removed gene:SLC37A4 from the panel
Lysosomal Storage Disorder v0.19 Zornitza Stark Panel name changed from Storage Disorder to Lysosomal Storage Disorder
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Lysosomal Storage Disorder v0.18 VPS33A Zornitza Stark Marked gene: VPS33A as ready
Lysosomal Storage Disorder v0.18 VPS33A Zornitza Stark Gene: vps33a has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v0.18 VPS33A Zornitza Stark Phenotypes for gene: VPS33A were changed from to Mucopolysaccharidosis-plus syndrome (MIM#617303)
Lysosomal Storage Disorder v0.17 VPS33A Zornitza Stark Publications for gene: VPS33A were set to
Lysosomal Storage Disorder v0.16 VPS33A Zornitza Stark Mode of inheritance for gene: VPS33A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.15 VPS33A Zornitza Stark Classified gene: VPS33A as Amber List (moderate evidence)
Lysosomal Storage Disorder v0.15 VPS33A Zornitza Stark Gene: vps33a has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v0.14 CTNS Zornitza Stark Marked gene: CTNS as ready
Lysosomal Storage Disorder v0.14 CTNS Zornitza Stark Gene: ctns has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.14 CTNS Zornitza Stark Classified gene: CTNS as Green List (high evidence)
Lysosomal Storage Disorder v0.14 CTNS Zornitza Stark Gene: ctns has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.13 SLC2A2 Zornitza Stark Marked gene: SLC2A2 as ready
Lysosomal Storage Disorder v0.13 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.13 SLC2A2 Zornitza Stark Phenotypes for gene: SLC2A2 were changed from to Fanconi-Bickel syndrome (MIM#227810)
Lysosomal Storage Disorder v0.12 SLC2A2 Zornitza Stark Publications for gene: SLC2A2 were set to
Lysosomal Storage Disorder v0.11 SLC2A2 Zornitza Stark Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.10 SLC2A2 Crystle Lee reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome (MIM#227810); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.10 CTSK Zornitza Stark Marked gene: CTSK as ready
Lysosomal Storage Disorder v0.10 CTSK Zornitza Stark Gene: ctsk has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v0.10 CTSK Zornitza Stark Classified gene: CTSK as Amber List (moderate evidence)
Lysosomal Storage Disorder v0.10 CTSK Zornitza Stark Gene: ctsk has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v0.9 SLC37A4 Zornitza Stark Marked gene: SLC37A4 as ready
Lysosomal Storage Disorder v0.9 SLC37A4 Zornitza Stark Gene: slc37a4 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.9 SLC37A4 Zornitza Stark Phenotypes for gene: SLC37A4 were changed from to Glycogen storage disease Ib (MIM#232220); Glycogen storage disease Ic (MIM#232240)
Lysosomal Storage Disorder v0.8 SLC37A4 Zornitza Stark Publications for gene: SLC37A4 were set to
Lysosomal Storage Disorder v0.7 SLC37A4 Zornitza Stark Mode of inheritance for gene: SLC37A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.6 SUMF1 Seb Lunke Marked gene: SUMF1 as ready
Lysosomal Storage Disorder v0.6 SUMF1 Seb Lunke Gene: sumf1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.6 SUMF1 Seb Lunke Classified gene: SUMF1 as Green List (high evidence)
Lysosomal Storage Disorder v0.6 SUMF1 Seb Lunke Gene: sumf1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.5 SLC37A4 Crystle Lee reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28224773, 31508908, 32005221; Phenotypes: Glycogen storage disease Ib (MIM#232220), Glycogen storage disease Ic (MIM#232240); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.5 CTSK Elena Savva gene: CTSK was added
gene: CTSK was added to Storage Disorder. Sources: Expert list
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSK were set to PMID: 32667742; 25725806; 25304337
Phenotypes for gene: CTSK were set to Pycnodysostosis 265800
Review for gene: CTSK was set to AMBER
Added comment: OMIN: Cathepsin K a member of the papain family of cysteine proteinases, plays an important role in osteoclast function

PMID: 32667742 - analysis of cells affected by granular corneal dystrophy shows reduced CTSK protein and lysosomal defects.

PMID: 25725806: 1 family with pycnodysostosis. Protein described as a lysosomal cysteine protease

PMID: 25304337 - 1 patient with pycnodysostosis, described as a lysosomal storage disorder

Summary: disease is described as a lysosomal disorder but no cell studies on lysosome function or protein studies found.
Sources: Expert list
Lysosomal Storage Disorder v0.5 SUMF1 Crystle Lee gene: SUMF1 was added
gene: SUMF1 was added to Storage Disorder. Sources: Expert Review
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUMF1 were set to 17360554; 25885655; 28566233
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency (MIM#272200)
Review for gene: SUMF1 was set to GREEN
Added comment: >5 MSD patients reported. This condition is caused by defective activity of all sulfatases, most of them with lysosomal localization.
Sources: Expert Review
Lysosomal Storage Disorder v0.5 VPS33A Crystle Lee reviewed gene: VPS33A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28013294, 27547915; Phenotypes: Mucopolysaccharidosis-plus syndrome (MIM#617303); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.5 CTNS Elena Savva gene: CTNS was added
gene: CTNS was added to Storage Disorder. Sources: Expert list
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNS were set to PMID: 32564281
Phenotypes for gene: CTNS were set to Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, nephropathic 219800; Cystinosis, ocular nonnephropathic 219750
Review for gene: CTNS was set to GREEN
Added comment: OMIM: CTNS encodes an integral membrane protein, that has features of a lysosomal membrane protein.

PMID: 32564281 - Reports many patients with biallelic variants and nephropathic cystinosis.
Protein transports free cystine from lysosomes to cytoplasm, free cystine accumulates in lysosomes and forms cystine crystals that lead to tissue and organ damage.
Sources: Expert list
Lysosomal Storage Disorder v0.5 CLCN6 Zornitza Stark Marked gene: CLCN6 as ready
Lysosomal Storage Disorder v0.5 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Red List (Low Evidence).
Lysosomal Storage Disorder v0.5 CLCN6 Zornitza Stark Phenotypes for gene: CLCN6 were changed from to Benign partial epilepsy; febrile seizures; NCL
Lysosomal Storage Disorder v0.4 CLCN6 Zornitza Stark Publications for gene: CLCN6 were set to
Lysosomal Storage Disorder v0.3 CLCN6 Zornitza Stark Mode of inheritance for gene: CLCN6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.2 CLCN6 Zornitza Stark Classified gene: CLCN6 as Red List (low evidence)
Lysosomal Storage Disorder v0.2 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Red List (Low Evidence).
Lysosomal Storage Disorder v0.1 CLCN6 Zornitza Stark edited their review of gene: CLCN6: Changed phenotypes: Benign partial epilepsy, febrile seizures, NCL; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.1 CLCN6 Zornitza Stark reviewed gene: CLCN6: Rating: RED; Mode of pathogenicity: None; Publications: 25794116, 21107136; Phenotypes: Benign partial epilepsy, febrile seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lysosomal Storage Disorder v0.1 Zornitza Stark Panel name changed from Storage Disorder_VCGS to Storage Disorder
Panel types changed to Victorian Clinical Genetics Services
Lysosomal Storage Disorder v0.0 VPS33A Zornitza Stark gene: VPS33A was added
gene: VPS33A was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS33A was set to Unknown
Lysosomal Storage Disorder v0.0 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPP1 was set to Unknown
Lysosomal Storage Disorder v0.0 SMPD1 Zornitza Stark gene: SMPD1 was added
gene: SMPD1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMPD1 was set to Unknown
Lysosomal Storage Disorder v0.0 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC37A4 was set to Unknown
Lysosomal Storage Disorder v0.0 SLC2A2 Zornitza Stark gene: SLC2A2 was added
gene: SLC2A2 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC2A2 was set to Unknown
Lysosomal Storage Disorder v0.0 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC17A5 was set to Unknown
Lysosomal Storage Disorder v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SGSH was set to Unknown
Lysosomal Storage Disorder v0.0 PYGM Zornitza Stark gene: PYGM was added
gene: PYGM was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PYGM was set to Unknown
Lysosomal Storage Disorder v0.0 PYGL Zornitza Stark gene: PYGL was added
gene: PYGL was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PYGL was set to Unknown
Lysosomal Storage Disorder v0.0 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PSAP was set to Unknown
Lysosomal Storage Disorder v0.0 PRKAG2 Zornitza Stark gene: PRKAG2 was added
gene: PRKAG2 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRKAG2 was set to Unknown
Lysosomal Storage Disorder v0.0 PPT1 Zornitza Stark gene: PPT1 was added
gene: PPT1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPT1 was set to Unknown
Lysosomal Storage Disorder v0.0 PHKA2 Zornitza Stark gene: PHKA2 was added
gene: PHKA2 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PHKA2 was set to Unknown
Lysosomal Storage Disorder v0.0 PGM1 Zornitza Stark gene: PGM1 was added
gene: PGM1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PGM1 was set to Unknown
Lysosomal Storage Disorder v0.0 PGK1 Zornitza Stark gene: PGK1 was added
gene: PGK1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PGK1 was set to Unknown
Lysosomal Storage Disorder v0.0 PGAM2 Zornitza Stark gene: PGAM2 was added
gene: PGAM2 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PGAM2 was set to Unknown
Lysosomal Storage Disorder v0.0 PFKM Zornitza Stark gene: PFKM was added
gene: PFKM was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PFKM was set to Unknown
Lysosomal Storage Disorder v0.0 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPC2 was set to Unknown
Lysosomal Storage Disorder v0.0 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPC1 was set to Unknown
Lysosomal Storage Disorder v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NEU1 was set to Unknown
Lysosomal Storage Disorder v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NAGLU was set to Unknown
Lysosomal Storage Disorder v0.0 NAGA Zornitza Stark gene: NAGA was added
gene: NAGA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NAGA was set to Unknown
Lysosomal Storage Disorder v0.0 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MFSD8 was set to Unknown
Lysosomal Storage Disorder v0.0 MCOLN1 Zornitza Stark gene: MCOLN1 was added
gene: MCOLN1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MCOLN1 was set to Unknown
Lysosomal Storage Disorder v0.0 MANBA Zornitza Stark gene: MANBA was added
gene: MANBA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MANBA was set to Unknown
Lysosomal Storage Disorder v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAN2B1 was set to Unknown
Lysosomal Storage Disorder v0.0 LIPA Zornitza Stark gene: LIPA was added
gene: LIPA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIPA was set to Unknown
Lysosomal Storage Disorder v0.0 LDHA Zornitza Stark gene: LDHA was added
gene: LDHA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LDHA was set to Unknown
Lysosomal Storage Disorder v0.0 LAMP2 Zornitza Stark gene: LAMP2 was added
gene: LAMP2 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMP2 was set to Unknown
Lysosomal Storage Disorder v0.0 KCTD7 Zornitza Stark gene: KCTD7 was added
gene: KCTD7 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCTD7 was set to Unknown
Lysosomal Storage Disorder v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IDUA was set to Unknown
Lysosomal Storage Disorder v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IDS was set to Unknown
Lysosomal Storage Disorder v0.0 HYAL1 Zornitza Stark gene: HYAL1 was added
gene: HYAL1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HYAL1 was set to Unknown
Lysosomal Storage Disorder v0.0 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HGSNAT was set to Unknown
Lysosomal Storage Disorder v0.0 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HEXB was set to Unknown
Lysosomal Storage Disorder v0.0 HEXA Zornitza Stark gene: HEXA was added
gene: HEXA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HEXA was set to Unknown
Lysosomal Storage Disorder v0.0 GYS2 Zornitza Stark gene: GYS2 was added
gene: GYS2 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GYS2 was set to Unknown
Lysosomal Storage Disorder v0.0 GYS1 Zornitza Stark gene: GYS1 was added
gene: GYS1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GYS1 was set to Unknown
Lysosomal Storage Disorder v0.0 GYG1 Zornitza Stark gene: GYG1 was added
gene: GYG1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GYG1 was set to Unknown
Lysosomal Storage Disorder v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GUSB was set to Unknown
Lysosomal Storage Disorder v0.0 GRN Zornitza Stark gene: GRN was added
gene: GRN was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRN was set to Unknown
Lysosomal Storage Disorder v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNS was set to Unknown
Lysosomal Storage Disorder v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNPTG was set to Unknown
Lysosomal Storage Disorder v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNPTAB was set to Unknown
Lysosomal Storage Disorder v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLB1 was set to Unknown
Lysosomal Storage Disorder v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLA was set to Unknown
Lysosomal Storage Disorder v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBE1 was set to Unknown
Lysosomal Storage Disorder v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBA was set to Unknown
Lysosomal Storage Disorder v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GALNS was set to Unknown
Lysosomal Storage Disorder v0.0 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GALC was set to Unknown
Lysosomal Storage Disorder v0.0 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GAA was set to Unknown
Lysosomal Storage Disorder v0.0 G6PC Zornitza Stark gene: G6PC was added
gene: G6PC was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: G6PC was set to Unknown
Lysosomal Storage Disorder v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FUCA1 was set to Unknown
Lysosomal Storage Disorder v0.0 EPM2A Zornitza Stark gene: EPM2A was added
gene: EPM2A was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EPM2A was set to Unknown
Lysosomal Storage Disorder v0.0 ENO3 Zornitza Stark gene: ENO3 was added
gene: ENO3 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ENO3 was set to Unknown
Lysosomal Storage Disorder v0.0 DNAJC5 Zornitza Stark gene: DNAJC5 was added
gene: DNAJC5 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAJC5 was set to Unknown
Lysosomal Storage Disorder v0.0 CTSF Zornitza Stark gene: CTSF was added
gene: CTSF was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTSF was set to Unknown
Lysosomal Storage Disorder v0.0 CTSD Zornitza Stark gene: CTSD was added
gene: CTSD was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTSD was set to Unknown
Lysosomal Storage Disorder v0.0 CTSA Zornitza Stark gene: CTSA was added
gene: CTSA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTSA was set to Unknown
Lysosomal Storage Disorder v0.0 CLN8 Zornitza Stark gene: CLN8 was added
gene: CLN8 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLN8 was set to Unknown
Lysosomal Storage Disorder v0.0 CLN6 Zornitza Stark gene: CLN6 was added
gene: CLN6 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLN6 was set to Unknown
Lysosomal Storage Disorder v0.0 CLN5 Zornitza Stark gene: CLN5 was added
gene: CLN5 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLN5 was set to Unknown
Lysosomal Storage Disorder v0.0 CLN3 Zornitza Stark gene: CLN3 was added
gene: CLN3 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLN3 was set to Unknown
Lysosomal Storage Disorder v0.0 CLCN6 Zornitza Stark gene: CLCN6 was added
gene: CLCN6 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLCN6 was set to Unknown
Lysosomal Storage Disorder v0.0 ATP13A2 Zornitza Stark gene: ATP13A2 was added
gene: ATP13A2 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP13A2 was set to Unknown
Lysosomal Storage Disorder v0.0 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASAH1 was set to Unknown
Lysosomal Storage Disorder v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARSB was set to Unknown
Lysosomal Storage Disorder v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARSA was set to Unknown
Lysosomal Storage Disorder v0.0 ALDOA Zornitza Stark gene: ALDOA was added
gene: ALDOA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALDOA was set to Unknown
Lysosomal Storage Disorder v0.0 AGL Zornitza Stark gene: AGL was added
gene: AGL was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AGL was set to Unknown
Lysosomal Storage Disorder v0.0 AGA Zornitza Stark gene: AGA was added
gene: AGA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AGA was set to Unknown
Lysosomal Storage Disorder v0.0 Zornitza Stark Added panel Storage Disorder_VCGS