Activity
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12 actions
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| Monogenic hearing loss v4.62 | PKHD1L1 | Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PKHD1L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.62 | PKHD1L1 | Achchuthan Shanmugasundram commented on gene: PKHD1L1: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.61 | PKHD1L1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PKHD1L1. Source NHS GMS was added to PKHD1L1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic hearing loss v4.50 | PKHD1L1 | Achchuthan Shanmugasundram Classified gene: PKHD1L1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.50 | PKHD1L1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Barbara Vona and reported in PMID:38459354, there are four unrelated cases reported with biallelic PKHD1L1 variants and non-syndromic sensorineural hearing loss. In addition, there are data from mouse and zebrafish models available in support of the disease association. This gene has been associated with relevant phenotype in OMIM (MIM #620794), but not yet in Gene2Phenotype. Hence, this gene can be promoted to green rating in the next GMS update. |
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| Monogenic hearing loss v4.50 | PKHD1L1 | Achchuthan Shanmugasundram Gene: pkhd1l1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.49 | PKHD1L1 | Achchuthan Shanmugasundram Phenotypes for gene: PKHD1L1 were changed from Deafness, autosomal recessive 124, OMIM:620794 to Deafness, autosomal recessive 124, OMIM:620794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.49 | PKHD1L1 | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: PKHD1L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.49 | PKHD1L1 | Achchuthan Shanmugasundram Phenotypes for gene: PKHD1L1 were changed from Hearing loss to Deafness, autosomal recessive 124, OMIM:620794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.48 | PKHD1L1 | Achchuthan Shanmugasundram Publications for gene: PKHD1L1 were set to PMID: 38459354 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.47 | PKHD1L1 | Achchuthan Shanmugasundram reviewed gene: PKHD1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38459354; Phenotypes: Deafness, autosomal recessive 124, OMIM:620794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.41 | PKHD1L1 |
Barbara Vona gene: PKHD1L1 was added gene: PKHD1L1 was added to Monogenic hearing loss. Sources: Literature Mode of inheritance for gene: PKHD1L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKHD1L1 were set to PMID: 38459354 Phenotypes for gene: PKHD1L1 were set to Hearing loss Penetrance for gene: PKHD1L1 were set to Complete Review for gene: PKHD1L1 was set to GREEN gene: PKHD1L1 was marked as current diagnostic Added comment: Through exome sequencing of four probands with autosomal recessive non-syndromic sensorineural hearing loss, biallelic variants were identified in PKHD1L1 (Redfield et al., 2024; PMID: 38459354). Hearing loss was of highly variable severities and ranged from mild to profound. It had a congenital (or suspected congenital) onset and was progressive. This work benefitted from two previously published models: a mouse model, showing progressive hearing loss in homozygous conditional knockout animals (Wu et al., 2019; PMID: 31444330) and a zebrafish study with zebrafish homozygous for knockout of both pkhd1l1-alpha and -beta having deficits in auditory startle response (Makrogkikas et al., 2023; PMID: 36960824). PKHD1L1 has been curated in OMIM as causing Autosomal Recessive Deafness 124 (DFNB124). Note that PKHD1L1 is a rather large gene, so variants should be carefully assessed for pathogenicity. Sources: Literature |
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