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Monogenic hearing loss v2.231 | MPZL2 | Eleanor Williams Phenotypes for gene: MPZL2 were changed from Deafness, autosomal recessive 111 OMIM:618145; deafness, autosomal recessive 111 MONDO:0029142 to Deafness, autosomal recessive 111, OMIM:618145; deafness, autosomal recessive 111, MONDO:0029142 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.230 | MPZL2 | Eleanor Williams Tag for-review was removed from gene: MPZL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.221 | MPZL2 | Eleanor Williams commented on gene: MPZL2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.220 | MPZL2 |
Eleanor Williams Source Expert Review Green was added to MPZL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Monogenic hearing loss v2.113 | MPZL2 | Eleanor Williams Tag for-review tag was added to gene: MPZL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.113 | MPZL2 | Eleanor Williams Phenotypes for gene: MPZL2 were changed from Deafness, autosomal recessive 111, MIM#618145 to Deafness, autosomal recessive 111 OMIM:618145; deafness, autosomal recessive 111 MONDO:0029142 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.112 | MPZL2 | Eleanor Williams Publications for gene: MPZL2 were set to 29982980; 29961571 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.111 | MPZL2 | Eleanor Williams Classified gene: MPZL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.111 | MPZL2 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber with a recommendation of a green rating following GMS review. 15 cases reported, 3 different variants. Mouse model supports role of gene in hearing loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.111 | MPZL2 | Eleanor Williams Gene: mpzl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.110 | MPZL2 | Eleanor Williams edited their review of gene: MPZL2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.110 | MPZL2 | Eleanor Williams edited their review of gene: MPZL2: Changed publications: 29982980, 29961571, 32203226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.110 | MPZL2 | Eleanor Williams reviewed gene: MPZL2: Rating: ; Mode of pathogenicity: None; Publications: 29982980, 29961571; Phenotypes: Deafness, autosomal recessive 111 OMIM:618145, deafness, autosomal recessive 111 MONDO:0029142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.4 | MPZL2 |
Zornitza Stark gene: MPZL2 was added gene: MPZL2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: MPZL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPZL2 were set to 29982980; 29961571 Phenotypes for gene: MPZL2 were set to Deafness, autosomal recessive 111, MIM#618145 Review for gene: MPZL2 was set to GREEN Added comment: 16 individuals from 6 unrelated consanguineous families reported with bi-allelic variants in this gene. Sources: Expert list |