| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic hearing loss v4.25 | COL9A3 |
Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: COL9A3. Tag Q2_21_phenotype was removed from gene: COL9A3. Tag Q2_21_expert_review was removed from gene: COL9A3. |
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| Monogenic hearing loss v3.7 | COL9A3 | Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: COL9A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.7 | COL9A3 | Arina Puzriakova commented on gene: COL9A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.248 | COL9A3 |
Eleanor Williams Tag Q2_21_rating tag was added to gene: COL9A3. Tag Q2_21_expert_review tag was added to gene: COL9A3. |
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| Monogenic hearing loss v2.237 | COL9A3 | Eleanor Williams Tag for-review was removed from gene: COL9A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.206 | COL9A3 | Arina Puzriakova Phenotypes for gene: COL9A3 were changed from Stickler syndrome to Stickler syndrome, MONDO:0019354 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.174 | COL9A3 | Ivone Leong reviewed gene: COL9A3: Rating: ; Mode of pathogenicity: None; Publications: 33633367; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.151 | COL9A3 | Eleanor Williams Classified gene: COL9A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.151 | COL9A3 | Eleanor Williams Added comment: Comment on list classification: Leaving the rating as amber, but there are now 4 cases with homozygous variants in this gene in patients with hearing loss. 2 cases are reported with Stickler syndrome. In the other 2 cases Stickler syndrome was not excluded. The phenotype needs to be reviewed to decide whether to encompass Stickler syndrome genes on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.151 | COL9A3 | Eleanor Williams Gene: col9a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.150 | COL9A3 | Eleanor Williams Added comment: Comment on mode of inheritance: Leaving as Biallelic mode of inheritance as 4 cases reported with this inheritance pattern. However PMID: 15917166 also reports two cases with an AD pattern of inheritance, but no segregation data to support this. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.150 | COL9A3 | Eleanor Williams Mode of inheritance for gene: COL9A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.149 | COL9A3 | Eleanor Williams Tag Q2_21_phenotype tag was added to gene: COL9A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.149 | COL9A3 | Eleanor Williams edited their review of gene: COL9A3: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.149 | COL9A3 |
Eleanor Williams edited their review of gene: COL9A3: Added comment: PMID: 33078831 - Wonkam et al 2020 - report 2 unrelated patients from Cameroon with autosomal recessive non-syndromic hearing impairment and a homozygous c.G406A, p.G136S variant in COL9A3. This variant is rare (ExAC_AFR MAF = 0, ExAC_ASI MAF = 0.001, Cameroonian controls MAF (N = 129) = 0). However, the authors report that further investigation of these patients is needed to exclude Stickler syndrome. PMID: 15917166 - Asamura et al 2005 - direct-sequencing of COL9A3 gene in 159 non-syndromic sensorineural deafness patients (Japanese and Korean) and 150 normal controls. 2 possible disease-causing mutations were identified in patients with moderate progressive bilateral sensorineural hearing impairment in all frequencies. : a homozygous in-frame deletion of three amino acid residues (G181-P183 del) in one patient (with consanguineous parents) and a heterozygous missense mutation (D617E) found in 2 independent autosomal dominant families. No segregation data.; Changed publications: 31090205, 24273071, 33078831, 15917166; Changed phenotypes: Stickler syndrome, non-syndromic sensorineural deafness |
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| Monogenic hearing loss v2.146 | COL9A3 | Eleanor Williams commented on gene: COL9A3: Removed the for-review tag as this gene is not a candidate for promoting to green as there are only two cases. However, once a decision is made about including Stickler syndrome green genes (e.g. COL9A1) or not on this panel, this gene may need further revision as regards to rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.85 | COL9A3 | Eleanor Williams Tag for-review tag was added to gene: COL9A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.85 | COL9A3 | Eleanor Williams Classified gene: COL9A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.85 | COL9A3 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber. 2 cases of a Stickler syndrome phenotype reported, which includes hearing loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.85 | COL9A3 | Eleanor Williams Gene: col9a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.84 | COL9A3 | Eleanor Williams Phenotypes for gene: COL9A3 were changed from to Stickler syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.83 | COL9A3 | Eleanor Williams Publications for gene: COL9A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.82 | COL9A3 | Eleanor Williams Mode of inheritance for gene: COL9A3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.81 | COL9A3 | Eleanor Williams edited their review of gene: COL9A3: Changed rating: AMBER; Changed publications: 31090205, 24273071; Changed phenotypes: Stickler syndrome; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.81 | COL9A3 | Eleanor Williams commented on gene: COL9A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||