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Lysosomal storage disorder v3.3 VPS33A Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect in the Russian poputation. Supportive functional studies were also presented (PMID 31070736). ; to: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect in the Russian population. Supportive functional studies were also presented (PMID 31070736).
Lysosomal storage disorder v3.1 VPS16 Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Lysosomal storage disorder v3.1 Catherine Snow Panel version 3.0 has been signed off on 2023-03-22
Lysosomal storage disorder v3.0 Catherine Snow promoted panel to version 3.0
Lysosomal storage disorder v2.4 CTNS Achchuthan Shanmugasundram Publications for gene: CTNS were set to
Lysosomal storage disorder v2.3 VPS33A Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: VPS33A.
Tag Q3_22_expert_review was removed from gene: VPS33A.
Lysosomal storage disorder v2.3 GNE Achchuthan Shanmugasundram Tag Q2_21_MOI was removed from gene: GNE.
Lysosomal storage disorder v2.3 CTSF Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: CTSF.
Lysosomal storage disorder v2.3 ATP13A2 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: ATP13A2.
Lysosomal storage disorder v2.3 ARSG Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: ARSG.
Lysosomal storage disorder v2.3 VPS33A Achchuthan Shanmugasundram reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Lysosomal storage disorder v2.3 GNE Achchuthan Shanmugasundram commented on gene: GNE
Lysosomal storage disorder v2.3 CTSF Achchuthan Shanmugasundram reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Lysosomal storage disorder v2.3 ATP13A2 Achchuthan Shanmugasundram reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Lysosomal storage disorder v2.3 ARSG Achchuthan Shanmugasundram reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Lysosomal storage disorder v2.2 VPS33A Achchuthan Shanmugasundram Source Expert Review Green was added to VPS33A.
Source NHS GMS was added to VPS33A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Lysosomal storage disorder v2.2 GNE Achchuthan Shanmugasundram Mode of inheritance for gene GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal storage disorder v2.2 CTSF Achchuthan Shanmugasundram Source Expert Review Green was added to CTSF.
Source NHS GMS was added to CTSF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Lysosomal storage disorder v2.2 ATP13A2 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP13A2.
Source NHS GMS was added to ATP13A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Lysosomal storage disorder v2.2 ARSG Achchuthan Shanmugasundram Source Expert Review Green was added to ARSG.
Source NHS GMS was added to ARSG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Lysosomal storage disorder v2.1 Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30
Lysosomal storage disorder v2.0 Achchuthan Shanmugasundram promoted panel to version 2.0
Lysosomal storage disorder v1.78 VPS33A Eleanor Williams commented on gene: VPS33A
Lysosomal storage disorder v1.78 VPS33A Eleanor Williams Tag Q2_21_expert_review was removed from gene: VPS33A.
Tag Q3_22_rating tag was added to gene: VPS33A.
Tag Q3_22_expert_review tag was added to gene: VPS33A.
Lysosomal storage disorder v1.78 GBA Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
Lysosomal storage disorder v1.78 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Lysosomal storage disorder v1.78 GBA Sarah Leigh commented on gene: GBA
Lysosomal storage disorder v1.78 ARSG Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least five variants reported in at least four unrelated cases, together with supportive functional and animal models.; to: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least five variants reported in at least four unrelated cases, together with supportive functional studies and animal models.
Lysosomal storage disorder v1.78 VPS16 Ivone Leong Tag Q2_21_rating was removed from gene: VPS16.
Tag Q2_21_MOI was removed from gene: VPS16.
Lysosomal storage disorder v1.78 VPS16 Sarah Leigh commented on gene: VPS16
Lysosomal storage disorder v1.77 VPS16 Ivone Leong Source Expert Review Green was added to VPS16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Lysosomal storage disorder v1.76 CLCN7 Arina Puzriakova Classified gene: CLCN7 as Amber List (moderate evidence)
Lysosomal storage disorder v1.76 CLCN7 Arina Puzriakova Added comment: Comment on list classification: Rating Amber as two individuals have been reported and with the same variant. Although there is some functional support, an additional independent case would help corroborate this association and indicate whether this is a variant specific phenotype. Different heterozygous CLCN7 variants have been linked to AD osteopetrosis.
Lysosomal storage disorder v1.76 CLCN7 Arina Puzriakova Gene: clcn7 has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.75 CLCN7 Arina Puzriakova gene: CLCN7 was added
gene: CLCN7 was added to Lysosomal storage disorder. Sources: Literature
watchlist tags were added to gene: CLCN7.
Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLCN7 were set to 31155284
Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, OMIM: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: Nicoli et al., 2019 (PMID: 31155284) reported on two unrelated individuals from different ethnic backgrounds with the same de novo gain-of-function missense variant (c.2144A>G, p.Tyr715Cys) in the CLCN7 gene. Both children had generalised cutaneous hypopigmentation without ocular involvement, delayed myelination and motor development, and organomegaly. Biopsies showed that both probands had cytoplasmic inclusions, characteristic of those seen in lysosomal-storage disorders. Human phenotypes were recapitulated by a mouse model harbouring the knock-in Clcn7 variant.

This gene-disease relationship is listed in OMIM (MIM# 618541) but is not yet in G2P.
Sources: Literature
Lysosomal storage disorder v1.74 VPS16 Arina Puzriakova Phenotypes for gene: VPS16 were changed from Mucopolysaccharidosis-like syndrome (biallelic); Dystonia 30, OMIM:619291; Dystonia Associated with Lysosomal Abnormalities (monoallelic) to Mucopolysaccharidosis-like syndrome (biallelic); Dystonia Associated with Lysosomal Abnormalities (monoallelic); Dystonia 30, OMIM:619291
Lysosomal storage disorder v1.73 VPS16 Arina Puzriakova changed review comment from: Comment on mode of inheritance: Biallelic variants are associated with a phenotype resembling a lysosomal storage disease. There are sufficient families (3) and functional data showing defects in the endolysosomal trafficking system to support inclusion on this panel for this allelic requirement.

Monoallelic variants are linked to dystonia but only one study performed further analyses that suggested lysosomal dysfunction. Therefore while possible, it is unclear whether the 'Lysosomal storage disorder' panel would be applied in these cases.

VPS16 will be flagged for GMS review with regards to the most appropriate MOI on this panel (biallelic or both bilalleic/monoallelic); to: Comment on mode of inheritance: Biallelic variants are associated with a phenotype resembling a lysosomal storage disease. There are sufficient families (3) and functional data showing defects in the endolysosomal trafficking system to support inclusion for this allelic requirement.

Monoallelic variants are linked to dystonia but only one study performed further analyses that suggested lysosomal dysfunction. Therefore while possible, it is unclear whether the 'Lysosomal storage disorder' panel would be applied in these cases.

VPS16 will be flagged for GMS review with regards to the most appropriate MOI on this panel (biallelic or both bilalleic/monoallelic)
Lysosomal storage disorder v1.73 VPS16 Arina Puzriakova Classified gene: VPS16 as Amber List (moderate evidence)
Lysosomal storage disorder v1.73 VPS16 Arina Puzriakova Gene: vps16 has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.72 VPS16 Arina Puzriakova Added comment: Comment on mode of inheritance: Biallelic variants are associated with a phenotype resembling a lysosomal storage disease. There are sufficient families (3) and functional data showing defects in the endolysosomal trafficking system to support inclusion on this panel for this allelic requirement.

Monoallelic variants are linked to dystonia but only one study performed further analyses that suggested lysosomal dysfunction. Therefore while possible, it is unclear whether the 'Lysosomal storage disorder' panel would be applied in these cases.

VPS16 will be flagged for GMS review with regards to the most appropriate MOI on this panel (biallelic or both bilalleic/monoallelic)
Lysosomal storage disorder v1.72 VPS16 Arina Puzriakova Mode of inheritance for gene: VPS16 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v1.71 VPS16 Arina Puzriakova gene: VPS16 was added
gene: VPS16 was added to Lysosomal storage disorder. Sources: Literature
Q2_21_rating, Q2_21_MOI tags were added to gene: VPS16.
Mode of inheritance for gene: VPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS16 were set to 33938619; 34013567
Phenotypes for gene: VPS16 were set to Mucopolysaccharidosis-like syndrome (biallelic); Dystonia 30, OMIM:619291; Dystonia Associated with Lysosomal Abnormalities (monoallelic)
Review for gene: VPS16 was set to GREEN
Added comment: Four individuals from three families were identified (PMIDs: 33938619; 34013567) exhibiting a mucopolysaccharidosis (MPS)-like lysosomal storage phenotype with short stature, coarse facies, DD or regression, peripheral neuropathy, skeletal dysplasia, neutropenia, and high-normal glycosaminoglycan excretion. All harboured homozygous variants in VPS16 which segregated with disease, including a missense variant in a sib pair (c.540G>T; p.Trp180Cys) and a recurrent intronic variant (c.2272‐18C>A) in two supposedly unrelated patients (although both of Middle Eastern descent).

Fibroblasts of the two patients with the intronic variant showed accumulation of lysosomal compartments and autophagosomes with significantly decreased VPS16 mRNA and protein levels, as well as HOPS/CORVET complexes. Cellular phenotypes were rescued upon re-expression of wild-type VPS16.

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Heterozygous variants, as well as a homozygous missense variant (c.156C>A) found in a consanguineous Chinese family (PMID:27174565), have been found to cause dystonia with variable onset (OMIM:619291). It has been suggested that the discrepancies in patient phenotypes are due to different mechanisms of pathogenicity, where variants causing dystonia do not affect the levels of endolysosomal tethering (HOPS/CORVET) complexes.

More research is needed to clarify the mechanisms underlying VPS16-related dystonia as only limited functional data is currently available - Steel et al. 2020 (PMID:32808683) did perform electron microscopic studies of lymphocytes and fibroblasts derived from 2 unrelated patients, which showed vacuolar abnormalities suggestive of impaired lysosomal function.
Sources: Literature
Lysosomal storage disorder v1.70 VPS33A Sarah Leigh edited their review of gene: VPS33A: Added comment: This gene has been tagged with: "Q2_21_expert_review" in order to seek the opinion of NHS experts on this gene, which has a founder variant together with supportive functional studies.; Changed rating: GREEN
Lysosomal storage disorder v1.70 VPS33A Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect. Supportive functional studies were also presented (PMID 31070736).; to: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect in the Russian poputation. Supportive functional studies were also presented (PMID 31070736).
Lysosomal storage disorder v1.70 VPS33A Sarah Leigh Tag Q2_21_expert_review tag was added to gene: VPS33A.
Lysosomal storage disorder v1.70 GNE Sarah Leigh Publications for gene: GNE were set to
Lysosomal storage disorder v1.69 GNE Sarah Leigh Added comment: Comment on mode of inheritance: The phenotype for GNE in this panel should be changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal storage disorder v1.69 GNE Sarah Leigh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v1.68 GNE Sarah Leigh Tag Q2_21_MOI tag was added to gene: GNE.
Lysosomal storage disorder v1.68 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Lysosomal storage disorder v1.67 VPS33A Sarah Leigh Classified gene: VPS33A as Amber List (moderate evidence)
Lysosomal storage disorder v1.67 VPS33A Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect. Supportive functional studies were also presented (PMID 31070736).
Lysosomal storage disorder v1.67 VPS33A Sarah Leigh Gene: vps33a has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.66 VPS33A Sarah Leigh Publications for gene: VPS33A were set to 28013294; 27547915
Lysosomal storage disorder v1.65 VPS33A Sarah Leigh Phenotypes for gene: VPS33A were changed from Mucopolysaccharidosis-plus syndrome (MIM#617303) to Mucopolysaccharidosis-plus syndrome OMIM:617303; mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012
Lysosomal storage disorder v1.64 CTSF Sarah Leigh Publications for gene: CTSF were set to 28749476; 27668283; 27524508
Lysosomal storage disorder v1.63 CTSF Sarah Leigh edited their review of gene: CTSF: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least nine variants reported in at least seven unrelated cases.; Changed rating: GREEN
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Tag Q2_21_rating tag was added to gene: CTSF.
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Classified gene: CTSF as Amber List (moderate evidence)
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Gene: ctsf has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.62 CTSF Sarah Leigh Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Tag Q2_21_rating tag was added to gene: ATP13A2.
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh edited their review of gene: ATP13A2: Added comment: Associated with relevant phenotype in OMIM and as both RD and IF Gen2Phen gene for Parkinson disease 9. At least five variants reported in at least five unrelated cases, together with supportive functional studies.; Changed rating: GREEN
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Classified gene: ATP13A2 as Amber List (moderate evidence)
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Gene: atp13a2 has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.60 ATP13A2 Sarah Leigh Phenotypes for gene: ATP13A2 were changed from Spastic paraplegia 78, autosomal recessive, MIM# 617225 to Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975
Lysosomal storage disorder v1.59 TPP1 Sarah Leigh Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis, neuronal, 2 204500 to Ceroid lipofuscinosis, neuronal, 2 OMIM:204500; neuronal ceroid lipofuscinosis 2 MONDO:0008769
Lysosomal storage disorder v1.58 SUMF1 Sarah Leigh Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency 272200 to Multiple sulfatase deficiency OMIM:272200; mucosulfatidosis MONDO:0010088
Lysosomal storage disorder v1.57 SMPD1 Sarah Leigh Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type A 257200; Niemann-Pick disease, type B 607616 to Niemann-Pick disease, type A OMIM:257200; Niemann-Pick disease type A MONDO:0009756; Niemann-Pick disease, type B OMIM:607616; Niemann-Pick disease type B MONDO:0011871
Lysosomal storage disorder v1.56 SLC17A5 Sarah Leigh Phenotypes for gene: SLC17A5 were changed from Salla disease 604369; Sialic acid storage disorder, infantile 269920 to Salla disease OMIM:604369; Salla disease MONDO:0011449; Sialic acid storage disorder, infantile OMIM:269920; free sialic acid storage disease, infantile form MONDO:0010027
Lysosomal storage disorder v1.55 SGSH Sarah Leigh Phenotypes for gene: SGSH were changed from Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900 to Mucopolysaccharidosis type IIIA (Sanfilippo A) OMIM:252900; Sanfilippo syndrome type A MONDO:0009655
Lysosomal storage disorder v1.54 PSAP Sarah Leigh Phenotypes for gene: PSAP were changed from Krabbe disease, atypical 611722; Combined SAP deficiency 611721; Gaucher disease, atypical 610539; Metachromatic leukodystrophy due to SAP-b deficiency 249900 to Krabbe disease, atypical OMIM:611722; Krabbe disease, atypical, due to saposin A deficiency MONDO:0012720; Combined SAP deficiency OMIM:611721; encephalopathy due to prosaposin deficiency MONDO:0012719; Gaucher disease, atypical OMIM:610539; atypical Gaucher disease due to saposin C deficiency MONDO:0012517; Metachromatic leukodystrophy due to SAP-b deficiency OMIM:249900; metachromatic leukodystrophy due to saposin b deficiency MONDO:0009590
Lysosomal storage disorder v1.53 PPT1 Sarah Leigh Phenotypes for gene: PPT1 were changed from Ceroid lipofuscinosis, neuronal, 1 256730 to Ceroid lipofuscinosis, neuronal, 1 OMIM:256730; neuronal ceroid lipofuscinosis 1 MONDO:0009744
Lysosomal storage disorder v1.52 NPC2 Sarah Leigh Phenotypes for gene: NPC2 were changed from Niemann-pick disease, type C2 607625 to Niemann-pick disease, type C2 OMIM:607625; Niemann-Pick disease, type C2 MONDO:0011873
Lysosomal storage disorder v1.51 NPC1 Sarah Leigh Phenotypes for gene: NPC1 were changed from Niemann-Pick disease, type D 257220; Niemann-Pick disease, type C1 257220 to Niemann-Pick disease, type D OMIM:257220; Niemann-Pick disease, type C1 OMIM:257220; Niemann-Pick disease, type C1 MONDO:0009757
Lysosomal storage disorder v1.50 NEU1 Sarah Leigh Phenotypes for gene: NEU1 were changed from Sialidosis, type II 256550; Sialidosis, type I 256550 to Sialidosis, type II OMIM:256550; Sialidosis, type I OMIM:256550; sialidosis type 2 MONDO:0009738
Lysosomal storage disorder v1.49 NAGLU Sarah Leigh Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 to Mucopolysaccharidosis type IIIB (Sanfilippo B) OMIM:252920; Sanfilippo syndrome type B MONDO:0009656
Lysosomal storage disorder v1.48 NAGA Sarah Leigh Phenotypes for gene: NAGA were changed from Schindler disease, type I 609241; Schindler disease, type III 609241 to Schindler disease, type I OMIM:609241; Schindler disease, type III OMIM:609241; alpha-N-acetylgalactosaminidase deficiency type 1MONDO:0012221; Kanzaki disease OMIM:609242; alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0012222
Lysosomal storage disorder v1.47 MFSD8 Sarah Leigh Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal, 7 610951 to Ceroid lipofuscinosis, neuronal, 7 OMIM:610951; neuronal ceroid lipofuscinosis 7 MONDO:0012588
Lysosomal storage disorder v1.46 MCOLN1 Sarah Leigh Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV 252650 to Mucolipidosis IV OMIM:252650; mucolipidosis type IV MONDO:0009653
Lysosomal storage disorder v1.45 MANBA Sarah Leigh Phenotypes for gene: MANBA were changed from Mannosidosis, beta 248510 to Mannosidosis, beta OMIM:248510; beta-mannosidosis MONDO:0009562
Lysosomal storage disorder v1.44 MAN2B1 Sarah Leigh Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II 248500 to Mannosidosis, alpha-, types I and II OMIM:248500; alpha-mannosidosis MONDO:0009561
Lysosomal storage disorder v1.43 LIPA Sarah Leigh Phenotypes for gene: LIPA were changed from Cholesteryl ester storage disease 278000; Wolman disease 278000 to Cholesteryl ester storage disease OMIM:278000; Wolman disease OMIM:278000; lysosomal acid lipase deficiency MONDO:0010204
Lysosomal storage disorder v1.42 LAMP2 Sarah Leigh Phenotypes for gene: LAMP2 were changed from Danon disease 300257 to Danon disease OMIM:300257; Danon disease MONDO:0010281
Lysosomal storage disorder v1.41 IDUA Sarah Leigh Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Is 607016; Mucopolysaccharidosis Ih/s 607015 to Mucopolysaccharidosis Ih OMIM:607014; Hurler syndrome MONDO:0011758; Mucopolysaccharidosis Is OMIM:607016; Scheie syndrome MONDO:0011760; Mucopolysaccharidosis Ih/s OMIM:607015; Hurler-Scheie syndromeMONDO:0011759
Lysosomal storage disorder v1.40 IDS Sarah Leigh Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II 309900 to Mucopolysaccharidosis II OMIM:309900; mucopolysaccharidosis type 2 MONDO:0010674
Lysosomal storage disorder v1.39 HYAL1 Sarah Leigh Phenotypes for gene: HYAL1 were changed from ?Mucopolysaccharidosis type IX 601492 to ?Mucopolysaccharidosis type IX OMIM:601492; mucopolysaccharidosis type 9 MONDO:0011093
Lysosomal storage disorder v1.38 HGSNAT Sarah Leigh Added comment: Comment on phenotypes: Biallelic variants are also associated with Retinitis pigmentosa 73 OMIM:616544
Lysosomal storage disorder v1.38 HGSNAT Sarah Leigh Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 to Mucopolysaccharidosis type IIIC (Sanfilippo C) OMIM:252930; Sanfilippo syndrome type C MONDO:0009657
Lysosomal storage disorder v1.37 HEXB Sarah Leigh Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms 268800 to Sandhoff disease, infantile, juvenile, and adult forms OMIM:268800; Sandhoff disease MONDO:0010006
Lysosomal storage disorder v1.36 HEXA Sarah Leigh Phenotypes for gene: HEXA were changed from Tay-Sachs disease 272800; GM2-gangliosidosis, several forms 272800 to Tay-Sachs disease OMIM:272800; GM2-gangliosidosis, several forms OMIM:272800; Tay-Sachs disease MONDO:0010100
Lysosomal storage disorder v1.35 GUSB Sarah Leigh Phenotypes for gene: GUSB were changed from Mucopolysaccharidosis VII 253220 to Mucopolysaccharidosis VII OMIM:253220; mucopolysaccharidosis type 7 MONDO:0009662
Lysosomal storage disorder v1.34 GNPTG Sarah Leigh Phenotypes for gene: GNPTG were changed from Mucolipidosis III gamma 252605 to Mucolipidosis III gamma OMIM:252605; mucolipidosis type III gamma MONDO:0009652
Lysosomal storage disorder v1.33 GNPTAB Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type IIIMONDO:0018931 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type III MONDO:0018931
Lysosomal storage disorder v1.32 GNPTAB Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type IIIMONDO:0018931
Lysosomal storage disorder v1.31 GNPTAB Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta 252500 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650
Lysosomal storage disorder v1.30 GNE Sarah Leigh Phenotypes for gene: GNE were changed from Sialuria 269921 (AD); Nonaka myopathy 605820 to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
Lysosomal storage disorder v1.29 GM2A Sarah Leigh Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant 272750 to GM2-gangliosidosis, AB variant OMIM:272750; Tay-Sachs disease AB variant MONDO:0010099
Lysosomal storage disorder v1.28 GLB1 Sarah Leigh Deleted their comment
Lysosomal storage disorder v1.28 GLB1 Sarah Leigh Added comment: Comment on phenotypes: Mucopolysaccharidosis type IVB (Morquio) OMIM:253010;mucopolysaccharidosis type 4B MONDO:0009660;GM1-gangliosidosis, type III OMIM:230650;GM1 gangliosidosis type 3 MONDO:0009262;GM1-gangliosidosis, type I OMIM:230500;GM1 gangliosidosis type 1 MONDO:0009260;GM1-gangliosidosis, type II OMIM:230600;GM1 gangliosidosis type 2 MONDO:0009261
Lysosomal storage disorder v1.28 GLB1 Sarah Leigh Phenotypes for gene: GLB1 were changed from Mucopolysaccharidosis type IVB (Morquio) 253010; GM1-gangliosidosis, type III 230650; GM1-gangliosidosis, type I 230500; GM1-gangliosidosis, type II 230600 to Mucopolysaccharidosis type IVB (Morquio) OMIM:253010; mucopolysaccharidosis type 4B MONDO:0009660; GM1-gangliosidosis, type III OMIM:230650; GM1 gangliosidosis type 3 MONDO:0009262; GM1-gangliosidosis, type I OMIM:230500; GM1 gangliosidosis type 1 MONDO:0009260; GM1-gangliosidosis, type II OMIM:230600; GM1 gangliosidosis type 2 MONDO:0009261
Lysosomal storage disorder v1.27 GLA Sarah Leigh Phenotypes for gene: GLA were changed from Fabry disease 301500 to Fabry disease OMIM:301500; Fabry disease MONDO:0010526
Lysosomal storage disorder v1.26 GBA Sarah Leigh Phenotypes for gene: GBA were changed from Gaucher disease, type I 230800; Gaucher disease, type III 231000; Gaucher disease, type IIIC 231005; Gaucher disease, perinatal lethal 608013; Gaucher disease, type II 230900 to Gaucher disease, type I OMIM:230800; Gaucher disease type I MONDO:0009265; Gaucher disease, type III OMIM:231000; Gaucher disease type III MONDO:0009267; Gaucher disease, type IIIC OMIM:231005; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0009268; Gaucher disease, perinatal lethal OMIM:608013; Gaucher disease perinatal lethal MONDO:0011945; Gaucher disease, type II OMIM:230900; Gaucher disease type II MONDO:0009266
Lysosomal storage disorder v1.25 GALNS Sarah Leigh Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA 253000 to Mucopolysaccharidosis IVA OMIM:253000; mucopolysaccharidosis type 4A MONDO:0009659
Lysosomal storage disorder v1.24 GALC Sarah Leigh Phenotypes for gene: GALC were changed from Krabbe disease 245200 to Krabbe disease OMIM:245200; Krabbe disease MONDO:0009499
Lysosomal storage disorder v1.23 GAA Sarah Leigh Phenotypes for gene: GAA were changed from Glycogen storage disease II 232300 to Glycogen storage disease II OMIM:232300; glycogen storage disease II MONDO:0009290
Lysosomal storage disorder v1.22 FUCA1 Sarah Leigh Phenotypes for gene: FUCA1 were changed from Fucosidosis 230000 to Fucosidosis OMIM:230000; fucosidosis MONDO:0009254
Lysosomal storage disorder v1.21 DNAJC5 Sarah Leigh Phenotypes for gene: DNAJC5 were changed from Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 to Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350; neuronal ceroid lipofuscinosis 4B MONDO:0008083
Lysosomal storage disorder v1.20 CTSK Sarah Leigh Phenotypes for gene: CTSK were changed from Pycnodysostosis 265800 to Pycnodysostosis OMIM:265800; pycnodysostosis MONDO:0009940
Lysosomal storage disorder v1.19 CTSD Sarah Leigh Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 OMIM:610127 to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127; neuronal ceroid lipofuscinosis 10 MONDO:0012414
Lysosomal storage disorder v1.18 CTSD Sarah Leigh Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 610127 to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127
Lysosomal storage disorder v1.17 CTSA Sarah Leigh Phenotypes for gene: CTSA were changed from Galactosialidosis 256540 to Galactosialidosis OMIM:256540; galactosialidosis MONDO:0009737
Lysosomal storage disorder v1.16 CTNS Sarah Leigh Phenotypes for gene: CTNS were changed from Cystinosis, atypical nephropathic 219800; Cystinosis, nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, ocular nonnephropathic 219750 to Cystinosis, atypical nephropathic OMIM:219800; Cystinosis, nephropathic OMIM:219800; Cystinosis, late-onset juvenile or adolescent nephropathic OMIM:219900; Cystinosis, ocular nonnephropathic OMIM:219750; nephropathic cystinosis MONDO:0100151; juvenile nephropathic cystinosis MONDO:0009066; ocular cystinosis MONDO:0009064
Lysosomal storage disorder v1.15 ARSG Sarah Leigh edited their review of gene: ARSG: Added comment: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least five variants reported in at least four unrelated cases, together with supportive functional and animal models.; Changed rating: GREEN
Lysosomal storage disorder v1.15 ARSG Sarah Leigh Tag Q2_21_rating tag was added to gene: ARSG.
Lysosomal storage disorder v1.15 ARSG Sarah Leigh Publications for gene: ARSG were set to 20679209; 25452429; 26975023; 29300381; 33300174
Lysosomal storage disorder v1.14 ARSG Sarah Leigh Classified gene: ARSG as Amber List (moderate evidence)
Lysosomal storage disorder v1.14 ARSG Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Lysosomal storage disorder v1.14 ARSG Sarah Leigh Gene: arsg has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.13 ARSG Sarah Leigh Publications for gene: ARSG were set to 20679209; 25452429; 26975023; 29300381
Lysosomal storage disorder v1.12 ARSG Sarah Leigh Phenotypes for gene: ARSG were changed from Usher syndrome, type IV 618144 to Usher syndrome, type IV OMIM:618144; usher syndrome, type 4 MONDO:0029141
Lysosomal storage disorder v1.11 ARSG Zornitza Stark reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33300174; Phenotypes: Usher syndrome, type IV MIM#618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v1.11 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Lysosomal storage disorder v1.10 CLN6 Sarah Leigh Phenotypes for gene: CLN6 were changed from Ceroid lipofuscinosis, neuronal, 6 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300 to Ceroid lipofuscinosis, neuronal, 6 OMIM:601780; neuronal ceroid lipofuscinosis 6 MONDO:0011144; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300; neuronal ceroid lipofuscinosis 4A MONDO:0008768
Lysosomal storage disorder v1.9 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Lysosomal storage disorder v1.8 CLN3 Sarah Leigh Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 204200 to Ceroid lipofuscinosis, neuronal, 3 OMIM:204200; neuronal ceroid lipofuscinosis 3 MONDO:0008767
Lysosomal storage disorder v1.7 ASAH1 Sarah Leigh Phenotypes for gene: ASAH1 were changed from Farber lipogranulomatosis 228000 to Farber lipogranulomatosis OMIM:228000; Farber lipogranulomatosis MONDO:0009218
Lysosomal storage disorder v1.6 ARSB Sarah Leigh Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 to Mucopolysaccharidosis type VI (Maroteaux-Lamy) OMIM:253200; mucopolysaccharidosis type 6 MONDO:0009661
Lysosomal storage disorder v1.5 ARSA Sarah Leigh Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy 250100 to Metachromatic leukodystrophy OMIM:250100; metachromatic leukodystrophy, juvenile form MONDO:0009591
Lysosomal storage disorder v1.4 AGA Sarah Leigh Phenotypes for gene: AGA were changed from Aspartylglucosaminuria 208400 to Aspartylglucosaminuria OMIM:208400; aspartylglucosaminuria MONDO:0008830
Lysosomal storage disorder v1.3 ATP13A2 Zornitza Stark gene: ATP13A2 was added
gene: ATP13A2 was added to Lysosomal storage disorder. Sources: Expert list
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 28137957; 31996848
Phenotypes for gene: ATP13A2 were set to Spastic paraplegia 78, autosomal recessive, MIM# 617225
Review for gene: ATP13A2 was set to GREEN
gene: ATP13A2 was marked as current diagnostic
Added comment: Protein is a lysosomal P5-type transport ATPase, the activity of which critically depends on catalytic autophosphorylation.

PMID: 28137957 - 3 families with complicated hereditary spastic paraplegia. Supported by functional studies showing increased lysosomal size with aberrant material inside, and reduced lysosome activity.

PMID: 31996848 - protein acts as a lysosomal polyamine exporter. At high concentrations polyamines induce cell toxicity, which is exacerbated by ATP13A2 loss due to lysosomal dysfunction, lysosomal rupture and cathepsin B activation.
Sources: Expert list
Lysosomal storage disorder v1.3 CTSF Zornitza Stark gene: CTSF was added
gene: CTSF was added to Lysosomal storage disorder. Sources: Expert list
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSF were set to 28749476; 27668283; 27524508
Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362
Review for gene: CTSF was set to GREEN
Added comment: Cathepsin is a member of the papain family of cysteine proteases, a major component of the lysosomal proteolytic system.

PMID: 28749476 - 1 chet patient (missense, CNV) with FTD, onset at 37 years old.

PMID: 27668283 - 2 families with adult-onset neuronal ceroid lipofuscinosis and FTD. Onset in 20s-30s. Light and electron microscopy shows swollen neuronal perikarya and intraneuronal storage of polymorphic lipofuscin-like inclusions

PMID: 27524508 - 1 hom family (PTC) with early-onset Alzheimer disease
Sources: Expert list
Lysosomal storage disorder v1.3 VPS33A Zornitza Stark gene: VPS33A was added
gene: VPS33A was added to Lysosomal storage disorder. Sources: Expert list
Mode of inheritance for gene: VPS33A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33A were set to 28013294; 27547915
Phenotypes for gene: VPS33A were set to Mucopolysaccharidosis-plus syndrome (MIM#617303)
Review for gene: VPS33A was set to AMBER
Added comment: Single variant (R498W) reported in the Turkish and Yakut population. Functional studies support association of this gene to lysosomal dysfunction.
Sources: Expert list
Lysosomal storage disorder v1.3 Sarah Leigh Panel version has been signed off
Lysosomal storage disorder v1.0 Sarah Leigh promoted panel to version 1.0
Lysosomal storage disorder v0.11 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Lysosomal storage disorder v0.10 Sarah Leigh List of related panels changed from to R276
Lysosomal storage disorder v0.9 LAMP2 Sarah Leigh Mode of inheritance for gene: LAMP2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Lysosomal storage disorder v0.8 SLC17A5 Carol Hardy Deleted their comment
Lysosomal storage disorder v0.8 LAMP2 Carol Hardy Deleted their comment
Lysosomal storage disorder v0.8 GALC Carol Hardy Deleted their comment
Lysosomal storage disorder v0.8 FUCA1 Carol Hardy Deleted their comment
Lysosomal storage disorder v0.8 GAA Carol Hardy Deleted their comment
Lysosomal storage disorder v0.8 HYAL1 Sarah Leigh Classified gene: HYAL1 as Green List (high evidence)
Lysosomal storage disorder v0.8 HYAL1 Sarah Leigh Added comment: Comment on list classification: Comments from Dr Clare E Beesley, Clinical Scientist, London North Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust: 2 unrelated families that have variants (PMIDs 10339581, 21559944), also have a confirmed enzyme diagnosis and there is a mouse model that shows similar features (PMID 26322170).
Lysosomal storage disorder v0.8 HYAL1 Sarah Leigh Gene: hyal1 has been classified as Green List (High Evidence).
Lysosomal storage disorder v0.7 HYAL1 Sarah Leigh Publications for gene: HYAL1 were set to
Lysosomal storage disorder v0.6 SUMF1 Carol Hardy Deleted their review
Lysosomal storage disorder v0.6 MCOLN1 Carol Hardy Deleted their review
Lysosomal storage disorder v0.6 GLB1 Carol Hardy Deleted their review
Lysosomal storage disorder v0.6 GLB1 Carol Hardy Deleted their comment
Lysosomal storage disorder v0.6 GM2A Carol Hardy Deleted their review
Lysosomal storage disorder v0.6 GM2A Carol Hardy Deleted their comment
Lysosomal storage disorder v0.6 ARSG Sarah Leigh Added comment: Comment on phenotypes: Including of neuronal ceroid lipofuscinosis
Lysosomal storage disorder v0.6 ARSG Sarah Leigh Phenotypes for gene: ARSG were changed from to Usher syndrome, type IV 618144
Lysosomal storage disorder v0.5 ARSG Sarah Leigh Publications for gene: ARSG were set to
Lysosomal storage disorder v0.3 ARSG Sarah Leigh reviewed gene: ARSG: Rating: ; Mode of pathogenicity: None; Publications: 20679209, 25452429, 26975023, 29300381; Phenotypes: ; Mode of inheritance: None
Lysosomal storage disorder v0.3 TPP1 Emma Ashton reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 SUMF1 Emma Ashton reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 SMPD1 Emma Ashton reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 SLC17A5 Emma Ashton reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 SGSH Emma Ashton reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 PSAP Emma Ashton reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 PPT1 Emma Ashton reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 NPC2 Emma Ashton reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 NPC1 Emma Ashton reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 NEU1 Emma Ashton reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 NAGLU Emma Ashton reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 NAGA Emma Ashton reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 MFSD8 Emma Ashton reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 MCOLN1 Emma Ashton reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 MANBA Emma Ashton reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 MAN2B1 Emma Ashton reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 LIPA Emma Ashton reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 IDUA Emma Ashton reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 IDS Emma Ashton reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Lysosomal storage disorder v0.3 HYAL1 Emma Ashton reviewed gene: HYAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 HGSNAT Emma Ashton reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 HEXB Emma Ashton reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 HEXA Emma Ashton reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GUSB Emma Ashton reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GNS Emma Ashton reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GNPTG Emma Ashton reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GNPTAB Emma Ashton reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GNE Emma Ashton reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GM2A Emma Ashton reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GLB1 Emma Ashton reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GLA Emma Ashton reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Lysosomal storage disorder v0.3 GBA Emma Ashton reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GALNS Emma Ashton reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GALC Emma Ashton reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GAA Emma Ashton reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 FUCA1 Emma Ashton reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 DNAJC5 Emma Ashton reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Lysosomal storage disorder v0.3 CTSK Emma Ashton reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CTSD Emma Ashton reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 CTSA Emma Ashton reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CTNS Emma Ashton reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 CLN8 Emma Ashton reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 CLN6 Emma Ashton reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 CLN5 Emma Ashton reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 CLN3 Emma Ashton reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 ASAH1 Emma Ashton reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 ARSG Emma Ashton reviewed gene: ARSG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 ARSB Emma Ashton reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 ARSA Emma Ashton reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 AGA Emma Ashton reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 TPP1 Carol Hardy reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 204500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 SUMF1 Carol Hardy reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple sulfatase deficiency 272200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 SMPD1 Carol Hardy reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease, type A 257200, Niemann-Pick disease, type B 607616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 SLC17A5 Carol Hardy reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Salla disease 604369, Sialic acid storage disorder, infantile 269920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 SGSH Carol Hardy reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 PSAP Carol Hardy reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined SAP deficiency 611721, Gaucher disease, atypical 610539, Krabbe disease, atypical 611722, Metachromatic leukodystrophy due to SAP-b deficiency 249900
; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 PPT1 Carol Hardy reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 1 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 NPC2 Carol Hardy reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-pick disease, type C2 607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 NPC1 Carol Hardy reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease, type C1 257220, Niemann-Pick disease, type D 257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 NEU1 Carol Hardy reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sialidosis, type I 256550, Sialidosis, type II 256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 NAGLU Carol Hardy reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 NAGA Carol Hardy reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Schindler disease, type III 609241, Schindler disease, type I 609241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 MFSD8 Carol Hardy reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 7 610951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 MCOLN1 Carol Hardy reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis IV 252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 MANBA Carol Hardy reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mannosidosis, beta 248510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 MAN2B1 Carol Hardy reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II 248500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 LIPA Carol Hardy reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cholesteryl ester storage disease 278000, Wolman disease 278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 LAMP2 Carol Hardy reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Danon disease 300257; Mode of inheritance: ; Current diagnostic: yes
Lysosomal storage disorder v0.3 IDUA Carol Hardy reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis Ih 607014, Mucopolysaccharidosis Ih/s 607015, Mucopolysaccharidosis Is 607016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 IDS Carol Hardy reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis II 309900; Mode of inheritance:
Lysosomal storage disorder v0.3 HYAL1 Carol Hardy reviewed gene: HYAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mucopolysaccharidosis type IX 601492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 HGSNAT Carol Hardy reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 HEXB Carol Hardy reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 HEXA Carol Hardy reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GM2-gangliosidosis, several forms 272800, Tay-Sachs disease 272800 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GUSB Carol Hardy reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis VII 253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GNS Carol Hardy reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIID 252940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GNPTG Carol Hardy reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis III gamma 252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GNPTAB Carol Hardy reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis II alpha/beta 252500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GNE Carol Hardy reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nonaka myopathy 605820, Sialuria 269921 (AD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GM2A Carol Hardy reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GM2-gangliosidosis, AB variant 272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GLB1 Carol Hardy reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GM1-gangliosidosis, type I 230500, GM1-gangliosidosis, type II 230600, GM1-gangliosidosis, type III 230650, Mucopolysaccharidosis type IVB (Morquio) 253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GLA Carol Hardy reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fabry disease 301500; 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 v0.3 GBA Carol Hardy reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gaucher disease, perinatal lethal 608013, Gaucher disease, type I 230800, Gaucher disease, type II 230900, Gaucher disease, type III 231000, Gaucher disease, type IIIC 231005

; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GALNS Carol Hardy reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis IVA 253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GALC Carol Hardy reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Krabbe disease 245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GAA Carol Hardy reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease II 232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 FUCA1 Carol Hardy reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fucosidosis 230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 DNAJC5 Carol Hardy reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 4, Parry type 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lysosomal storage disorder v0.3 CTSK Carol Hardy reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pycnodysostosis 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CTSD Carol Hardy reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CTSA Carol Hardy reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosialidosis 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CTNS Carol Hardy reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cystinosis, atypical nephropathic 219800, Cystinosis, late-onset juvenile or adolescent nephropathic 219900, Cystinosis, nephropathic 219800, Cystinosis, ocular nonnephropathic 219750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CLN8 Carol Hardy reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CLN6 Carol Hardy reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 6 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CLN5 Carol Hardy reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CLN3 Carol Hardy reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3 204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 ASAH1 Carol Hardy reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Farber lipogranulomatosis 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 ARSB Carol Hardy reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 ARSA Carol Hardy reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Metachromatic leukodystrophy 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 AGA Carol Hardy reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aspartylglucosaminuria 208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.2 ARSG Ivone Leong gene: ARSG was added
gene: ARSG was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Amber
Mode of inheritance for gene: ARSG was set to BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.2 TPP1 Ivone Leong gene: TPP1 was added
gene: TPP1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2 204500
Lysosomal storage disorder v0.2 SUMF1 Ivone Leong gene: SUMF1 was added
gene: SUMF1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency 272200
Lysosomal storage disorder v0.2 SMPD1 Ivone Leong gene: SMPD1 was added
gene: SMPD1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A 257200; Niemann-Pick disease, type B 607616
Lysosomal storage disorder v0.2 SLC17A5 Ivone Leong gene: SLC17A5 was added
gene: SLC17A5 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Salla disease 604369; Sialic acid storage disorder, infantile 269920
Lysosomal storage disorder v0.2 SGSH Ivone Leong gene: SGSH was added
gene: SGSH was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900
Lysosomal storage disorder v0.2 PSAP Ivone Leong gene: PSAP was added
gene: PSAP was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to Krabbe disease, atypical 611722; Combined SAP deficiency 611721; Gaucher disease, atypical 610539; Metachromatic leukodystrophy due to SAP-b deficiency 249900
Lysosomal storage disorder v0.2 PPT1 Ivone Leong gene: PPT1 was added
gene: PPT1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1 256730
Lysosomal storage disorder v0.2 NPC2 Ivone Leong gene: NPC2 was added
gene: NPC2 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2 607625
Lysosomal storage disorder v0.2 NPC1 Ivone Leong gene: NPC1 was added
gene: NPC1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type D 257220; Niemann-Pick disease, type C1 257220
Lysosomal storage disorder v0.2 NEU1 Ivone Leong gene: NEU1 was added
gene: NEU1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis, type II 256550; Sialidosis, type I 256550
Lysosomal storage disorder v0.2 NAGLU Ivone Leong gene: NAGLU was added
gene: NAGLU was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
Lysosomal storage disorder v0.2 NAGA Ivone Leong gene: NAGA was added
gene: NAGA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to Schindler disease, type I 609241; Schindler disease, type III 609241
Lysosomal storage disorder v0.2 MFSD8 Ivone Leong gene: MFSD8 was added
gene: MFSD8 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 610951
Lysosomal storage disorder v0.2 MCOLN1 Ivone Leong gene: MCOLN1 was added
gene: MCOLN1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV 252650
Lysosomal storage disorder v0.2 MANBA Ivone Leong gene: MANBA was added
gene: MANBA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to Mannosidosis, beta 248510
Lysosomal storage disorder v0.2 MAN2B1 Ivone Leong gene: MAN2B1 was added
gene: MAN2B1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II 248500
Lysosomal storage disorder v0.2 LIPA Ivone Leong gene: LIPA was added
gene: LIPA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease 278000; Wolman disease 278000
Lysosomal storage disorder v0.2 LAMP2 Ivone Leong gene: LAMP2 was added
gene: LAMP2 was added to Lysosomal storage disorder. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: LAMP2 was set to
Phenotypes for gene: LAMP2 were set to Danon disease 300257
Lysosomal storage disorder v0.2 IDUA Ivone Leong gene: IDUA was added
gene: IDUA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Is 607016; Mucopolysaccharidosis Ih/s 607015
Lysosomal storage disorder v0.2 IDS Ivone Leong gene: IDS was added
gene: IDS was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II 309900
Lysosomal storage disorder v0.2 HYAL1 Ivone Leong gene: HYAL1 was added
gene: HYAL1 was added to Lysosomal storage disorder. Sources: North London GLH,Wessex and West Midlands GLH,Expert Review Amber,NHS GMS
Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYAL1 were set to ?Mucopolysaccharidosis type IX 601492
Lysosomal storage disorder v0.2 HGSNAT Ivone Leong gene: HGSNAT was added
gene: HGSNAT was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
Lysosomal storage disorder v0.2 HEXB Ivone Leong gene: HEXB was added
gene: HEXB was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms 268800
Lysosomal storage disorder v0.2 HEXA Ivone Leong gene: HEXA was added
gene: HEXA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Tay-Sachs disease 272800; GM2-gangliosidosis, several forms 272800
Lysosomal storage disorder v0.2 GUSB Ivone Leong gene: GUSB was added
gene: GUSB was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII 253220
Lysosomal storage disorder v0.2 GNS Ivone Leong gene: GNS was added
gene: GNS was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID 252940
Lysosomal storage disorder v0.2 GNPTG Ivone Leong gene: GNPTG was added
gene: GNPTG was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma 252605
Lysosomal storage disorder v0.2 GNPTAB Ivone Leong gene: GNPTAB was added
gene: GNPTAB was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to Mucolipidosis II alpha/beta 252500
Lysosomal storage disorder v0.2 GNE Ivone Leong gene: GNE was added
gene: GNE was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Sialuria 269921 (AD); Nonaka myopathy 605820
Lysosomal storage disorder v0.2 GM2A Ivone Leong gene: GM2A was added
gene: GM2A was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant 272750
Lysosomal storage disorder v0.2 GLB1 Ivone Leong gene: GLB1 was added
gene: GLB1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to Mucopolysaccharidosis type IVB (Morquio) 253010; GM1-gangliosidosis, type III 230650; GM1-gangliosidosis, type I 230500; GM1-gangliosidosis, type II 230600
Lysosomal storage disorder v0.2 GLA Ivone Leong gene: GLA was added
gene: GLA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were set to Fabry disease 301500
Lysosomal storage disorder v0.2 GBA Ivone Leong gene: GBA was added
gene: GBA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease, type I 230800; Gaucher disease, type III 231000; Gaucher disease, type IIIC 231005; Gaucher disease, perinatal lethal 608013; Gaucher disease, type II 230900
Lysosomal storage disorder v0.2 GALNS Ivone Leong gene: GALNS was added
gene: GALNS was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA 253000
Lysosomal storage disorder v0.2 GALC Ivone Leong gene: GALC was added
gene: GALC was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease 245200
Lysosomal storage disorder v0.2 GAA Ivone Leong gene: GAA was added
gene: GAA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II 232300
Lysosomal storage disorder v0.2 FUCA1 Ivone Leong gene: FUCA1 was added
gene: FUCA1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis 230000
Lysosomal storage disorder v0.2 DNAJC5 Ivone Leong gene: DNAJC5 was added
gene: DNAJC5 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Lysosomal storage disorder v0.2 CTSK Ivone Leong gene: CTSK was added
gene: CTSK was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to Pycnodysostosis 265800
Lysosomal storage disorder v0.2 CTSD Ivone Leong gene: CTSD was added
gene: CTSD was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10 610127
Lysosomal storage disorder v0.2 CTSA Ivone Leong gene: CTSA was added
gene: CTSA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSA were set to Galactosialidosis 256540
Lysosomal storage disorder v0.2 CTNS Ivone Leong gene: CTNS was added
gene: CTNS was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTNS were set to Cystinosis, atypical nephropathic 219800; Cystinosis, nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, ocular nonnephropathic 219750
Lysosomal storage disorder v0.2 CLN8 Ivone Leong gene: CLN8 was added
gene: CLN8 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
Lysosomal storage disorder v0.2 CLN6 Ivone Leong gene: CLN6 was added
gene: CLN6 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300
Lysosomal storage disorder v0.2 CLN5 Ivone Leong gene: CLN5 was added
gene: CLN5 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5 256731
Lysosomal storage disorder v0.2 CLN3 Ivone Leong gene: CLN3 was added
gene: CLN3 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3 204200
Lysosomal storage disorder v0.2 ASAH1 Ivone Leong gene: ASAH1 was added
gene: ASAH1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to Farber lipogranulomatosis 228000
Lysosomal storage disorder v0.2 ARSB Ivone Leong gene: ARSB was added
gene: ARSB was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
Lysosomal storage disorder v0.2 ARSA Ivone Leong gene: ARSA was added
gene: ARSA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy 250100
Lysosomal storage disorder v0.2 AGA Ivone Leong gene: AGA was added
gene: AGA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria 208400
Lysosomal storage disorder v0.0 Ellen McDonagh Added Panel Lysosomal storage disorder
Set panel types to: GMS Rare Disease