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| Hereditary systemic amyloidosis v0.18 | B2M | Eleanor Williams changed review comment from: Comment on list classification: Demoting from green to amber as only 1 family has been reported.; to: Comment on list classification: Demoting from green to amber as only 1 family has been reported. Agreement for the amber rating was confirmed with members of the GMS renal specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.18 | B2M | Eleanor Williams Phenotypes for gene: B2M were changed from 105200 to ?Amyloidosis, familial visceral 105200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.10 | B2M | Eleanor Williams Classified gene: B2M as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.10 | B2M | Eleanor Williams Added comment: Comment on list classification: Demoting from green to amber as only 1 family has been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.10 | B2M | Eleanor Williams Gene: b2m has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.7 | B2M |
Eleanor Williams changed review comment from: Provisionally associated with ?Amyloidosis, familial visceral (#105200) in OMIM. PMID: 22693999 - Valleix et al 2012 - report a French family with 4 members who had progressive bowel dysfunction with extensive visceral amyloid deposits composed of β2-microglobulin. All the members of this family had normal circulating concentrations of β2-microglobulin and normal renal function. A heterozygous mutation in the B2M gene was found in each of the affected family members c.286G→A, Asp76Asn. The 3 unaffected family members tested were all wild type. The Asp76Asn β2-microglobulin variant was thermodynamically unstable and remarkably fibrillogenic in vitro under physiological conditions.; to: Provisionally associated with ?Amyloidosis, familial visceral (#105200) in OMIM. PMID: 22693999 - Valleix et al 2012 - report a French family with 4 members who had progressive bowel dysfunction with extensive visceral amyloid deposits composed of β2-microglobulin. All the members of this family had normal circulating concentrations of β2-microglobulin and normal renal function. A heterozygous mutation in the B2M gene was found in each of the affected family members c.286G→A, Asp76Asn. The 3 unaffected family members tested were all wild type. The Asp76Asn β2-microglobulin variant was thermodynamically unstable and remarkably fibrillogenic in vitro under physiological conditions. A PubMed search did not reveal any further cases. |
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| Hereditary systemic amyloidosis v0.7 | B2M |
Eleanor Williams commented on gene: B2M: Provisionally associated with ?Amyloidosis, familial visceral (#105200) in OMIM. PMID: 22693999 - Valleix et al 2012 - report a French family with 4 members who had progressive bowel dysfunction with extensive visceral amyloid deposits composed of β2-microglobulin. All the members of this family had normal circulating concentrations of β2-microglobulin and normal renal function. A heterozygous mutation in the B2M gene was found in each of the affected family members c.286G→A, Asp76Asn. The 3 unaffected family members tested were all wild type. The Asp76Asn β2-microglobulin variant was thermodynamically unstable and remarkably fibrillogenic in vitro under physiological conditions. |
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| Hereditary systemic amyloidosis v0.4 | B2M | Eleanor Williams reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: ; Publications: 22693999; Phenotypes: 105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.3 | B2M |
Eleanor Williams gene: B2M was added gene: B2M was added to Amyloidosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: B2M was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: B2M were set to 22693999 Phenotypes for gene: B2M were set to 105200 |
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