Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Hereditary systemic amyloidosis v1.16 CST3 Sarah Leigh Publications for gene: CST3 were set to 2900981; 3495457; 1352269; 3673496; 7482672
Hereditary systemic amyloidosis v1.15 CST3 Sarah Leigh Publications for gene: CST3 were set to 2900981; 3495457; 1352269; 367349; 7482672
Hereditary systemic amyloidosis v0.18 CST3 Eleanor Williams changed review comment from: Comment on list classification: Demoting from green to amber. Same substitution L68Q in all cases reported so far, with it appearing to be a founder mutation in the Icelandic cases, with only one sporadic case from a non-Icelandic individual.; to: Comment on list classification: Demoting from green to amber. Same substitution L68Q in all cases reported so far, with it appearing to be a founder mutation in the Icelandic cases, with only one sporadic case from a non-Icelandic individual. Agreement for the amber rating was confirmed with members of the GMS renal specialist test group.
Hereditary systemic amyloidosis v0.18 CST3 Eleanor Williams changed review comment from: Comment on list classification: Demoting from green to amber. Same substitution L68Q in all cases reported so far, with it appearing to be a founder mutation in the Icelandic cases, with only one sporadic cases from a non-Icelandic individual.; to: Comment on list classification: Demoting from green to amber. Same substitution L68Q in all cases reported so far, with it appearing to be a founder mutation in the Icelandic cases, with only one sporadic case from a non-Icelandic individual.
Hereditary systemic amyloidosis v0.13 CST3 Eleanor Williams Phenotypes for gene: CST3 were changed from 105150 to Cerebral amyloid angiopathy 105150
Hereditary systemic amyloidosis v0.12 CST3 Eleanor Williams Publications for gene: CST3 were set to 2900981
Hereditary systemic amyloidosis v0.11 CST3 Eleanor Williams Classified gene: CST3 as Amber List (moderate evidence)
Hereditary systemic amyloidosis v0.11 CST3 Eleanor Williams Added comment: Comment on list classification: Demoting from green to amber. Same substitution L68Q in all cases reported so far, with it appearing to be a founder mutation in the Icelandic cases, with only one sporadic cases from a non-Icelandic individual.
Hereditary systemic amyloidosis v0.11 CST3 Eleanor Williams Gene: cst3 has been classified as Amber List (Moderate Evidence).
Hereditary systemic amyloidosis v0.7 CST3 Eleanor Williams commented on gene: CST3: Associated with Cerebral amyloid angiopathy (#105150) in PubMed

PMID: 2900981 - Palsdottir et al 1988 - abstract only accessed - 8 families with Hereditary cystatin C amyloid angiopathy and a mutation in the codon for leucine at position 68. The mutation affects a Alu I restriction site and from this it has been found that the mutation is transmitted only in affected members of the families.

PMID: 3495457 - Abrahamson et al 1987 - 1 case - report that the deposited fragment from a patient with hereditary cerebral hemorrhage with amyloidosis had a L68Q substitution.

PMID: 1352269 - Abrahamson et al 1992 - 4 HCCAA patients of four different families were analyzed by nucleotide sequencing; the HCCAA-causing mutation in all families was found to be a single T----A substitution in the codon for amino acid residue 68 of cystatin C.

PMID: 3673496 - Jensson et al 1987 - abstract only accessed - but OMIM report that they found abnormal cystatin C protein sequences in the amyloid protein deposited in patients with Icelandic-type amyloidosis. Abnormalities included absence of 10 amino acids from the amino terminal and an amino acid substitution at position 58, which corresponded to position 68 in cystatin C.

PMID: 7482672 - Graffagnino et al 1995 - report a case of sporadic Cerebral amyloid angiopathy (CAA) with intracerebral hemorrhage (ICH) in an elderly Croatian man with a mutation in cystatin C identical to that found in Icelandic hereditary cerebral hemorrhage with amyloidosis.

Same substitution L68Q in all cases reported so far, with it appearing to be a founder mutation in the Icelandic cases, with only one sporadic cases from a non-Icelandic individual.
Hereditary systemic amyloidosis v0.4 CST3 Eleanor Williams reviewed gene: CST3: Rating: GREEN; Mode of pathogenicity: ; Publications: 2900981; Phenotypes: 105150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary systemic amyloidosis v0.3 CST3 Eleanor Williams gene: CST3 was added
gene: CST3 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CST3 were set to 2900981
Phenotypes for gene: CST3 were set to 105150