Activity
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| Leukodystrophy, adult onset v7.12 | PSAP |
Ida Ertmanska Tag Q3_26_expert_review was removed from gene: PSAP. Tag Q3_26_demote_red was removed from gene: PSAP. |
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| Leukodystrophy, adult onset v7.12 | PSAP | Ida Ertmanska edited their review of gene: PSAP: Changed phenotypes to: Metachromatic leukodystrophy due to SAP-b deficiency, OMIM:249900, metachromatic leukodystrophy due to saposin B deficiency, MONDO:0009590 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v7.12 | PSAP | Ida Ertmanska edited their review of gene: PSAP: Changed publications to: 31289144, 37404680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v7.12 | PSAP |
Ida Ertmanska Tag Q3_26_demote_amber was removed from gene: PSAP. Tag Q3_26_demote_red tag was added to gene: PSAP. |
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| Leukodystrophy, adult onset v7.12 | PSAP | Ida Ertmanska changed review comment from: Comment on list classification: While there are numerous individuals reported in literature with biallelic PSAP variants and Metachromatic leukodystrophy, there is only one patient with symptom onset after 18 years of age. Thus, this gene is not in scope of the 'Leukodystrophy, adult onset' and should be demoted to Red rating.; to: Comment on list classification: While there are numerous individuals reported in literature with biallelic PSAP variants and Metachromatic leukodystrophy, there is only one patient with symptom onset after 18 years of age. Most individuals present in infancy or during the early years of childhood. Thus, this gene is not in scope of the 'Leukodystrophy, adult onset', and should be demoted to Red rating, until more evidence emerges. An expert-review tag was added to ensure GMS agreement on this demotion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v7.12 | PSAP |
Ida Ertmanska Tag Q3_26_demote_red was removed from gene: PSAP. Tag Q3_26_demote_amber tag was added to gene: PSAP. |
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| Leukodystrophy, adult onset v7.12 | PSAP |
Ida Ertmanska Tag Q3_26_expert_review tag was added to gene: PSAP. Tag Q3_26_demote_red tag was added to gene: PSAP. |
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| Leukodystrophy, adult onset v7.12 | PSAP | Ida Ertmanska commented on gene: PSAP: Comment on list classification: While there are numerous individuals reported in literature with biallelic PSAP variants and Metachromatic leukodystrophy, there is only one patient with symptom onset after 18 years of age. Thus, this gene is not in scope of the 'Leukodystrophy, adult onset' and should be demoted to Red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v7.12 | PSAP |
Ida Ertmanska changed review comment from: PMID: 31289144 Fenu et al., 2019 Case report of a 29yo female patient with Metachromatic leukodystrophy and comp het PSAP variants: c.645C>A and c.665T>C. Age of disease onset was after age 22yrs. She presented with behavioural and cognitive decline. She was also treated for postpartum depression since early 20s. No motor disturbance except a mild tremor in her hands. Brain MRI showed diffuse leukoencephalopathy, and ENMG revealed a severe demyelinating polyneuropathy. Sural nerve biopsy showed characteristic MLD inclusions. Study specifically says that 'this is the first adult-onset case' reported for this association. ClinGen classified the association between PSAP and AR "metachromatic leukodystrophy due to saposin B deficiency" as Definitive (Lysosomal Diseases GCEP, 07/20/2023). All of the 9 probands included in this curation we under the age of 8 years at time of report.; to: PMID: 31289144 Fenu et al., 2019 Case report of a 29yo female patient with Metachromatic leukodystrophy and comp het PSAP variants: c.645C>A, p.Asn215Lys and c.665T>C, p.Leu222Ser. Variant p.Leu222Ser suggested to have a milder effect on protein function. Age of disease onset was after age 22yrs. She presented with behavioural and cognitive decline. She was also treated for postpartum depression since early 20s. No motor disturbance except a mild tremor in her hands. Brain MRI showed diffuse leukoencephalopathy, and ENMG revealed a severe demyelinating polyneuropathy. Sural nerve biopsy showed characteristic MLD inclusions. High levels of urinary sulfatides noted. Study specifically says that 'this is the first adult-onset case' reported for this association. PMID: 37404680 Sheth et al., 2023 Case 2 - 19yo male Indian patient who presented with gait ataxia, difficulty in walking and nystagmus - labelled 'adult‐onset', however his symptoms had started at age 13 years. His MRI brain revealed confluent and symmetrical areas of T2W/FLAIR hyperintensities in the periventricular and deep white matter of bilateral cerebral hemispheres, centrum semiovale and corpus callosum. Mild thinning of the corpus callosum was also seen. He was homozygous for PSAP c.593G > A, p.Cys198Tyr. Method: targeted seq panel of 23 genes. ClinGen classified the association between PSAP and AR "metachromatic leukodystrophy due to saposin B deficiency" as Definitive (Lysosomal Diseases GCEP, 07/20/2023). All of the 9 probands included in this curation were under the age of 8 years at time of report. |
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| Leukodystrophy, adult onset v7.12 | PSAP |
Ida Ertmanska changed review comment from: PMID: 31289144 Fenu et al., 2019 ClinGen classified the association between PSAP and AR "metachromatic leukodystrophy due to saposin B deficiency" as Definitive (Lysosomal Diseases GCEP, 07/20/2023). All of the 9 probands included in this curation we under the age of 8 years at time of report.; to: PMID: 31289144 Fenu et al., 2019 Case report of a 29yo female patient with Metachromatic leukodystrophy and comp het PSAP variants: c.645C>A and c.665T>C. Age of disease onset was after age 22yrs. She presented with behavioural and cognitive decline. She was also treated for postpartum depression since early 20s. No motor disturbance except a mild tremor in her hands. Brain MRI showed diffuse leukoencephalopathy, and ENMG revealed a severe demyelinating polyneuropathy. Sural nerve biopsy showed characteristic MLD inclusions. Study specifically says that 'this is the first adult-onset case' reported for this association. ClinGen classified the association between PSAP and AR "metachromatic leukodystrophy due to saposin B deficiency" as Definitive (Lysosomal Diseases GCEP, 07/20/2023). All of the 9 probands included in this curation we under the age of 8 years at time of report. |
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| Leukodystrophy, adult onset v7.12 | PSAP | Ida Ertmanska reviewed gene: PSAP: Rating: RED; Mode of pathogenicity: None; Publications: 31289144; Phenotypes: Metachromatic leukodystrophy due to SAP-b deficiency, OMIM:249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.19 | PSAP | David Lynch reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.15 | PSAP |
Catherine Snow Mode of inheritance for gene PSAP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Krabbe disease, atypical, 611722; Metachromatic leukodystrophy due to SAP-b deficiency, 249900 for gene: PSAP |
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| Leukodystrophy, adult onset v0.14 | PSAP | Catherine Snow reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Krabbe disease, atypical, 611722, Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.10 | PSAP | Louise Daugherty reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.9 | PSAP | Ian Berry reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.8 | PSAP | Louise Daugherty Publications for gene PSAP were changed from to 27159321; 25527826; 28334938; 20301621; 24357685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.7 | PSAP |
Louise Daugherty Source Expert Review Green was added to PSAP. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Leukodystrophy, adult onset v0.6 | PSAP | Louise Daugherty Source NHS GMS was added to PSAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.5 | PSAP |
Louise Daugherty gene: PSAP was added gene: PSAP was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: PSAP was set to |
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