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| Hereditary systemic amyloidosis v0.17 | LYZ | Eleanor Williams Phenotypes for gene: LYZ were changed from 105200 to Amyloidosis, renal 105200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.7 | LYZ |
Eleanor Williams commented on gene: LYZ: Associated with Amyloidosis, renal (#105200) in OMIM. PMID: 21988333 - Sattianayagam et al 2012 - 16 Caucasian patients from 8 families with all with Lysozyme amyloidosis, except for asymptomatic patient. 12 patients were heterozygous for a mutation in the lysozyme gene that encodes the D67H variant, 2 cases carried the W64R variant and 1 case each carried the I56T and D67G variants. |
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| 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. |
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| Hereditary systemic amyloidosis v0.4 | LYZ | Eleanor Williams reviewed gene: LYZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 21988333; Phenotypes: 105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.3 | LYZ |
Eleanor Williams gene: LYZ was added gene: LYZ was added to Amyloidosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LYZ were set to 21988333 Phenotypes for gene: LYZ were set to 105200 |
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