Activity
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| Retinal disorders v8.42 | KIAA1549 | Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: KIAA1549. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.42 | KIAA1549 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available for the association of biallelic variants with retinal phenotype. However, there is no published evidence linking monoallelic variants to retinal disorder. Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.42 | KIAA1549 | Achchuthan Shanmugasundram Mode of inheritance for gene: KIAA1549 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.41 | KIAA1549 | Achchuthan Shanmugasundram Phenotypes for gene: KIAA1549 were changed from No OMIM phenotype to Retinitis pigmentosa 86, OMIM:618613; retinitis pigmentosa 86, MONDO:0032834 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.40 | KIAA1549 | Achchuthan Shanmugasundram Publications for gene: KIAA1549 were set to 23105016; 24938718; 30120214 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.39 | KIAA1549 |
Achchuthan Shanmugasundram changed review comment from: PMID:23105016 (2013) reported autozygome-guided exome sequencing in a large cohort of ~150 families with retinal dystrophy, where a novel truncating variant was identified in KIAA1549 as the only variant that remained after filtering in one family. PMID:30120214 (2018) reported the identification of a homozygous missense and a homozygous frameshift variants in KIAA1549 gene via WES in two unrelated families with retinitis pigmentosa. There were two additional cases reported with biallelic KIAA1549 variants and retinitis pigmentosa in two different large cohort studies (PMID:31213501 (2019) & PMID:36819107 (2023)). PMID:34027671 (2021) reported proteomics study on Pomt1 conditional knockout mouse model, which showed that KIAA1549 is a POMT1 substrate requiring O-mannosylation for proper localization and stability. I cannot find any published evidence of patient cases of retinal disorders with monoallelic KIAA1549 variants. Only biallelic variants in KIAA1549 gene have been associated with relevant phenotypes in OMIM (MIM #618613, accessed on 14 October 2025) and Gene2Phenotype (with 'limited' rating on the eye panel). Biallelic KIAA1549 variants have also been associated with retinitis pigmentosa 86 with 'strong' rating by the Retina expert panel on ClinGen (https://search.clinicalgenome.org/CCID:008708).; to: PMID:23105016 (2013) reported autozygome-guided exome sequencing in a large cohort of ~150 families with retinal dystrophy, where a novel truncating variant was identified in KIAA1549 as the only variant that remained after filtering in one family. PMID:30120214 (2018) reported the identification of a homozygous missense and a homozygous frameshift variants in KIAA1549 gene via WES in two unrelated families with retinitis pigmentosa. There were two additional cases reported with biallelic KIAA1549 variants and retinitis pigmentosa in two different large cohort studies (PMID:31213501 (2019) & PMID:36819107 (2023)). PMID:34027671 (2021) reported proteomics study on Pomt1 conditional knockout mouse model, which showed that KIAA1549 is a POMT1 substrate requiring O-mannosylation for proper localization and stability. I cannot find any published evidence of patient cases of retinal disorders with monoallelic KIAA1549 variants. Only biallelic variants in KIAA1549 gene have been associated with relevant phenotypes in OMIM (MIM #618613, accessed on 14 October 2025) and Gene2Phenotype (with 'limited' rating on the eye panel). Biallelic KIAA1549 variants have also been associated with retinitis pigmentosa 86 with 'strong' rating by the Retina expert panel on ClinGen (https://search.clinicalgenome.org/CCID:008708). |
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| Retinal disorders v8.39 | KIAA1549 | Achchuthan Shanmugasundram reviewed gene: KIAA1549: Rating: GREEN; Mode of pathogenicity: None; Publications: 23105016, 30120214, 31213501, 34027671, 36819107; Phenotypes: Retinitis pigmentosa 86, OMIM:618613, retinitis pigmentosa 86, MONDO:0032834; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.1 | KIAA1549 | Cassandra Smith reviewed gene: KIAA1549: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.159 | KIAA1549 | Gavin Arno reviewed gene: KIAA1549: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.138 | KIAA1549 | Ivone Leong Mode of inheritance for gene: KIAA1549 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.137 | KIAA1549 |
Ivone Leong Source NHS GMS was added to KIAA1549. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Retinal disorders v1.111 | KIAA1549 | Ivone Leong Classified gene: KIAA1549 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.111 | KIAA1549 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green. KIAA1549 is not associated with a phenotype in OMIM or Gene2Phenotype. There are 3 unrelated cases of patients with RP who have variants in this gene. Therefore, there is enough evidence to promote this gene to green status. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.111 | KIAA1549 | Ivone Leong Gene: kiaa1549 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.110 | KIAA1549 | Ivone Leong Publications for gene: KIAA1549 were set to 23105016; 24938718 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.99 | KIAA1549 | Ivone Leong Publications for gene: KIAA1549 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||