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Monogenic hearing loss v3.7 CRYM Arina Puzriakova Tag Q2_21_rating was removed from gene: CRYM.
Monogenic hearing loss v3.7 CRYM Arina Puzriakova reviewed gene: CRYM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v3.6 CRYM Arina Puzriakova Source NHS GMS was added to CRYM.
Source Expert Review Green was added to CRYM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Monogenic hearing loss v2.171 CRYM Eleanor Williams Classified gene: CRYM as Red List (low evidence)
Monogenic hearing loss v2.171 CRYM Eleanor Williams Added comment: Comment on list classification: Leaving rating as red but with green recommendation following GMS review. 3 cases now reported, 1 in a family of significant size. Expression data to show that this protein is express in the ear.
Monogenic hearing loss v2.171 CRYM Eleanor Williams Gene: crym has been classified as Red List (Low Evidence).
Monogenic hearing loss v2.170 CRYM Eleanor Williams Tag Q2_21_rating tag was added to gene: CRYM.
Monogenic hearing loss v2.170 CRYM Eleanor Williams Phenotypes for gene: CRYM were changed from hearing loss; Deafness, autosomal dominant 40 to Deafness, autosomal dominant 40, OMIM:616357; autosomal dominant nonsyndromic deafness 40, MONDO:0014603
Monogenic hearing loss v2.169 CRYM Eleanor Williams Publications for gene: CRYM were set to 12471561; 1384048; 1478656; 16740909; 9328354
Monogenic hearing loss v2.168 CRYM Eleanor Williams edited their review of gene: CRYM: Added comment: Associated with Deafness, autosomal dominant 40 #616357 (AD) in OMIM.

PMID: 32742378 - Wang et al 2020 - report a 4 generation Chinese family with 31 members, of which 7 have hearing loss. WES identified a heterozygous missense mutation in CRYM (c.152C>T; Pro51Leu) which segregated with the phenotype in the family. As Zornitza Stark reports gnomad (3.1.1) has 2 hets reported (allele freq of 1.32e-5).

PMID: 12471561 - Abe et al 2003 - used genome-wide cDNA microarray analysis to investigate gene-expression profiles in human cochlea and vestibule and identified CRYM as a candidate gene. They then screened CRYM, among 192 patients with nonsyndromic deafness. Two unrelated Japanese patients were identified with variants in CRYM; one with a de novo change (c.945A→T, p.X315Y) which results in an extended protein in a patient with unaffected parents, and the other was a missense mutation (c.941A→C;p.K314T) that segregated dominantly in the proband’s family.

PMID: 16740909 - Oshima et al 2006 - looked at the effect of the two variants found by Abe et al, X315Y and K314T by looking at T3 binding activity of the mutant μ‐crystallin (product of CRYM) proteins. They found the K314T mutation impaired the NADPH dependent T3 binding (but did not find this for the X315Y variant). They also showed that μ‐crystallin protein localisation in mouse cochlea using immunocytochemical methods.

PMID: 18448257 - Usami et al 2009 - showed that Crym protein localizes in type II fibrocytes of the spiral ligament in the cochlea in mice and rats

PMID: 24676347 - Yoshimura et al 2014 - show a gradient of gene expression of CRYM in mouse cochlea

PMID: 26915689 - Hosoya et al 2016 - immunohistochemical analysis of expression of CRYM in cochlea of a non-human primate, the common marmoset and found a different expression pattern compared to mouse, with expression not only in the lateral wall spiral ligament and the spiral limbus, but also in both inner and outer hair cells, supporting cells.; Changed publications to: 32742378, 12471561, 16740909, 18448257, 24676347, 26915689; Changed phenotypes to: Deafness, autosomal dominant 40, OMIM:616357, autosomal dominant nonsyndromic deafness 40, MONDO:0014603; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss v2.156 CRYM Zornitza Stark reviewed gene: CRYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32742378, 12471561, 16740909, 18448257, 24676347, 26915689; Phenotypes: Deafness, autosomal dominant 40 MIM#616357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic hearing loss v1.104 CRYM Eleanor Williams Publications for gene: CRYM were set to PMID:12471561; 1384048; 1478656; 16740909; 9328354
Monogenic hearing loss v1.103 CRYM Eleanor Williams commented on gene: CRYM: I think the Abe et al 2003 publication referred to by Emma Ashton is PMID: 12471561 not PMID 420014
Monogenic hearing loss v1.89 CRYM Eleanor Williams commented on gene: CRYM
Monogenic hearing loss v1.59 CRYM Emma Ashton reviewed gene: CRYM: Rating: AMBER; Mode of pathogenicity: ; Publications: 420014; Phenotypes: ; Mode of inheritance: