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Monogenic hearing loss v2.230 HARS2 Eleanor Williams Tag for-review was removed from gene: HARS2.
Monogenic hearing loss v2.221 HARS2 Eleanor Williams commented on gene: HARS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.220 HARS2 Eleanor Williams Source Expert Review Green was added to HARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.185 HARS2 Ivone Leong Phenotypes for gene: HARS2 were changed from #614926:?Perrault syndrome 2 to Perrault syndrome 2, OMIM:614926
Monogenic hearing loss v2.184 HARS2 Ivone Leong Publications for gene: HARS2 were set to 12056811; 15779907; 21464306; 517579; 7755634; 27650058
Monogenic hearing loss v2.180 HARS2 Bill Newman reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID:34406847, 34338890); Phenotypes: sensorineural hearing loss, primary ovarian insufficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v2.23 HARS2 Eleanor Williams Tag for-review tag was added to gene: HARS2.
Monogenic hearing loss v2.23 HARS2 Eleanor Williams Classified gene: HARS2 as Amber List (moderate evidence)
Monogenic hearing loss v2.23 HARS2 Eleanor Williams Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review
Monogenic hearing loss v2.23 HARS2 Eleanor Williams Gene: hars2 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v2.4 HARS2 Eleanor Williams edited their review of gene: HARS2: Added comment: 6 new cases, so now 8 independent cases, which is sufficient to rate green.

New cases:

PMID: 31827252 - Demain et al 2019 - 3 unrelated families each with compound heterozygous variants in HARS2 in affected members. All 3 families share the c.1439G>A p.(Arg480His) (NM_012208.3) variant along with other likely pathogenic variants.

PMID: 31449985 - Karstensen et al 2019 - three novel families, compound heterozygous for missense variants in HARS2 and early onset, rapidly progressive hearing impairment in the five affected individuals. Premature ovarian insufficiency was also seen in some individuals.; Changed rating: GREEN
Monogenic hearing loss v2.4 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21464306, 27650058, 31827252, 31486067; Phenotypes: Perrault syndrome, deafness, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Monogenic hearing loss v1.95 HARS2 Eleanor Williams Publications for gene: HARS2 were set to PMID:12056811; 15779907; 21464306; 517579; 7755634
Monogenic hearing loss v1.94 HARS2 Eleanor Williams Classified gene: HARS2 as Amber List (moderate evidence)
Monogenic hearing loss v1.94 HARS2 Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber as there are now 2 independent cases of variants in HARS2 in patients with Perrault syndrome.
Monogenic hearing loss v1.94 HARS2 Eleanor Williams Gene: hars2 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v1.93 HARS2 Eleanor Williams commented on gene: HARS2
Monogenic hearing loss v1.59 HARS2 Emma Ashton reviewed gene: HARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27650058; Phenotypes: ; Mode of inheritance: