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Neurodegenerative disorders, adult onset v8.15 CST3 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: CST3.
Neurodegenerative disorders, adult onset v8.15 CST3 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewes note that the primary phenotype is leukodystrophy and there is insufficient information to support a monogenic cause of neurodegenerative disorder.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewers note that the primary phenotype is leukodystrophy and there is insufficient information to support a monogenic cause of neurodegenerative disorder.
Neurodegenerative disorders, adult onset v8.15 CST3 Achchuthan Shanmugasundram edited their review of gene: CST3: Changed rating: AMBER
Neurodegenerative disorders, adult onset v8.15 CST3 Achchuthan Shanmugasundram commented on gene: CST3: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewes note that the primary phenotype is leukodystrophy and there is insufficient information to support a monogenic cause of neurodegenerative disorder.
Neurodegenerative disorders, adult onset v7.19 CST3 Achchuthan Shanmugasundram Classified gene: CST3 as Amber List (moderate evidence)
Neurodegenerative disorders, adult onset v7.19 CST3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are >3 unrelated cases with Cerebral amyloid angiopathy (MIM #105150), however they were all reported with the same founder variant.

However, there are 18 patients from ten unrelated families with adult-onset leukodystrophy phenotype (not yet reported in OMIM) and with five different monoallelic variants, of which eight patients from five families were reported with cognitive decline and dementia on or before the age of 55.

Hence, there is sufficient evidence available for the promotion of this gene to green rating on the next GMS update.
Neurodegenerative disorders, adult onset v7.19 CST3 Achchuthan Shanmugasundram Gene: cst3 has been classified as Amber List (Moderate Evidence).
Neurodegenerative disorders, adult onset v7.18 CST3 Achchuthan Shanmugasundram Phenotypes for gene: CST3 were changed from Cerebral amyloid angiopathy, OMIM:105150 to Cerebral amyloid angiopathy, OMIM:105150; leukodystrophy, MONDO:0019046
Neurodegenerative disorders, adult onset v7.17 CST3 Achchuthan Shanmugasundram Publications for gene: CST3 were set to
Neurodegenerative disorders, adult onset v7.16 CST3 Achchuthan Shanmugasundram Mode of inheritance for gene: CST3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v7.15 CST3 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: CST3.
Neurodegenerative disorders, adult onset v7.15 CST3 Achchuthan Shanmugasundram edited their review of gene: CST3: Added comment: PMID:38489591 reported 16 patients from eight families with a novel adult-onset leukodystrophy disorder and with one of four different stop-gain or frameshift monoallelic variants in the CST3 gene. The reported variants are c.360del, c.357+1del, c.340C>T and c.376C>T, and none of these variants are found in general population (gnomAD). Clinical and radiological features of these patients differ markedly from the previously described Icelandic cerebral amyloid angiopathy found in patients carrying p.Leu68Asn substitution in CST3. The clinical phenotype consists of recurrent episodes of hemiplegic migraine associated with transient unilateral focal deficits and slowly progressing motor symptoms and cognitive decline in mid to older adult ages. Cognitive decline and dementia were present in 11 patients from seven families, of which seven patients from four families were aged below 55.

PMID:38729262 reported two unrelated Chinese individuals with adult-onset leukodystrophy and with monoallelic CST3 variants. One patient had the previously reported c.340C>T variant, while the other had novel c.357+1G>T variant. Memory deterioration and cognitive decline has been noted in the 48-year-old female patient with the novel variant.

This gene has only been reported with Cerebral amyloid angiopathy (MIM #105150) and not yet with the adult-onset leukodystrophy phenotype in OMIM.; Changed rating: GREEN; Changed publications to: 38489591, 38729262; Changed phenotypes to: Cerebral amyloid angiopathy, OMIM:105150, leukodystrophy, MONDO:0019046; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v3.49 CST3 Arina Puzriakova reviewed gene: CST3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v3.48 CST3 Arina Puzriakova Source NHS GMS was added to CST3.
Neurodegenerative disorders, adult onset v3.47 CST3 Achchuthan Shanmugasundram changed review comment from: There are >3 unrelated cases with relevant phenotype (cerebral amyloid angiopathy) and age of onset is third or fourth decade of life. However, all these cases were identified with the same heterozygous variant in the CST3 gene (p.L68Q) and was from the same Icelandic population. This gene should be rated AMBER in the absence of functional studies on this specific variant, de novo cases with this variant from other populations or existence of other variants causing the same phenotype.; to: There are >3 unrelated cases with relevant phenotype (cerebral amyloid angiopathy) and age of onset is third or fourth decade of life. However, all these cases were identified with the same heterozygous variant in the CST3 gene (p.L68Q) and was from the same Icelandic population. There should be functional studies on this specific variant, de novo cases with this variant from other populations or existence of other variants causing the same phenotype for it to be rated green. Hence, this gene is rated AMBER.
Neurodegenerative disorders, adult onset v3.47 CST3 Achchuthan Shanmugasundram Deleted their comment
Neurodegenerative disorders, adult onset v3.47 CST3 Achchuthan Shanmugasundram edited their review of gene: CST3: Added comment: There are >3 unrelated cases with relevant phenotype (cerebral amyloid angiopathy) and age of onset is third or fourth decade of life. However, all these cases were identified with the same heterozygous variant in the CST3 gene (p.L68Q) and was from the same Icelandic population. This gene should be rated AMBER in the absence of functional studies on this specific variant, de novo cases with this variant from other populations or existence of other variants causing the same phenotype.; Changed rating: AMBER
Neurodegenerative disorders, adult onset v3.47 CST3 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: CST3.
Neurodegenerative disorders, adult onset v3.36 CST3 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: CST3.
Neurodegenerative disorders, adult onset v3.25 CST3 Achchuthan Shanmugasundram Mode of inheritance for gene: CST3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v3.24 CST3 Achchuthan Shanmugasundram Classified gene: CST3 as Amber List (moderate evidence)
Neurodegenerative disorders, adult onset v3.24 CST3 Achchuthan Shanmugasundram Gene: cst3 has been classified as Amber List (Moderate Evidence).
Neurodegenerative disorders, adult onset v3.23 CST3 Achchuthan Shanmugasundram Classified gene: CST3 as Amber List (moderate evidence)
Neurodegenerative disorders, adult onset v3.23 CST3 Achchuthan Shanmugasundram Gene: cst3 has been classified as Amber List (Moderate Evidence).
Neurodegenerative disorders, adult onset v3.22 CST3 Achchuthan Shanmugasundram reviewed gene: CST3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral amyloid angiopathy, OMIM:105150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v3.5 CST3 Arina Puzriakova Phenotypes for gene: CST3 were changed from to Cerebral amyloid angiopathy, OMIM:105150
Neurodegenerative disorders, adult onset v3.4 CST3 Eleanor Williams reviewed gene: CST3: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral amyloid angiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v3.3 CST3 Eleanor Williams gene: CST3 was added
gene: CST3 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: CST3 was set to