| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic hearing loss v4.6 | LMX1A | Achchuthan Shanmugasundram Publications for gene: LMX1A were set to 29754270; 29971487; 32840933; 19540218; 18985389 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.7 | LMX1A | Arina Puzriakova Tag Q1_22_MOI was removed from gene: LMX1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.7 | LMX1A | Arina Puzriakova commented on gene: LMX1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.6 | LMX1A |
Arina Puzriakova Source NHS GMS was added to LMX1A. Mode of inheritance for gene LMX1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Monogenic hearing loss v2.230 | LMX1A | Eleanor Williams commented on gene: LMX1A: The MOI of this gene should be reviewed at the next update to consider whether it should be set to Both mono and bi-allelic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.230 | LMX1A | Eleanor Williams Tag Q1_22_MOI tag was added to gene: LMX1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.230 | LMX1A | Eleanor Williams changed review comment from: Comment on mode of inheritance: Setting MOI to Monoallelic as only one case of biallelic reported to date, and patients with biallelic variants would still be picked up by the Genomics England pipeline.; to: Comment on mode of inheritance: Setting MOI to Monoallelic as only one case of biallelic reported to date | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.230 | LMX1A |
Eleanor Williams Tag watchlist was removed from gene: LMX1A. Tag for-review was removed from gene: LMX1A. |
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| Monogenic hearing loss v2.221 | LMX1A | Eleanor Williams commented on gene: LMX1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.220 | LMX1A |
Eleanor Williams Source Expert Review Green was added to LMX1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic hearing loss v2.120 | LMX1A |
Eleanor Williams Tag watchlist tag was added to gene: LMX1A. Tag for-review tag was added to gene: LMX1A. |
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| Monogenic hearing loss v2.120 | LMX1A | Eleanor Williams Classified gene: LMX1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.120 | LMX1A | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber but with a recommendation for a green rating following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.120 | LMX1A | Eleanor Williams Gene: lmx1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.119 | LMX1A | Eleanor Williams Added comment: Comment on mode of inheritance: Setting MOI to Monoallelic as only one case of biallelic reported to date, and patients with biallelic variants would still be picked up by the Genomics England pipeline. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.119 | LMX1A | Eleanor Williams Mode of inheritance for gene: LMX1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.118 | LMX1A | Eleanor Williams Phenotypes for gene: LMX1A were changed from to Deafness, autosomal dominant 7 OMIM:601412; autosomal dominant nonsyndromic deafness 7 MONDO:0011074 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.117 | LMX1A | Eleanor Williams Publications for gene: LMX1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.116 | LMX1A | Eleanor Williams edited their review of gene: LMX1A: Changed rating: GREEN; Changed publications: 29754270, 29971487, 32840933, 19540218, 18985389; Changed phenotypes: Deafness, autosomal dominant 7 OMIM:601412, autosomal dominant nonsyndromic deafness 7 MONDO:0011074; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.116 | LMX1A | Eleanor Williams commented on gene: LMX1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.94 | LMX1A | Zornitza Stark edited their review of gene: LMX1A: Added comment: Now 3 families with monoallelic missense variants (2 with dominant inheritance and 1 de novo), and a single biallelic family. Supporting mouse model and in vitro functional assays.; Changed rating: GREEN; Changed publications: 29754270, 29971487, 32840933 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | LMX1A | Zornitza Stark reviewed gene: LMX1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 29754270, 29971487; Phenotypes: Deafness, autosomal recessive and autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||