Activity
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19 actions
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| Skeletal ciliopathies v5.4 | FAM149B1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FAM149B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v5.4 | FAM149B1 | Achchuthan Shanmugasundram commented on gene: FAM149B1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v5.3 | FAM149B1 |
Achchuthan Shanmugasundram Source NHS GMS was added to FAM149B1. Source Expert Review Green was added to FAM149B1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal ciliopathies v4.6 | FAM149B1 | Achchuthan Shanmugasundram Classified gene: FAM149B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.6 | FAM149B1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (five unrelated families and two different variants) for promoting this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.6 | FAM149B1 | Achchuthan Shanmugasundram Gene: fam149b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.6 | FAM149B1 | Achchuthan Shanmugasundram Phenotypes for gene: FAM149B1 were changed from Joubert syndrome 36, OMIM:618763 to Joubert syndrome 36, OMIM:618763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.5 | FAM149B1 | Achchuthan Shanmugasundram Phenotypes for gene: FAM149B1 were changed from Joubert syndrome; oral-facial-digital syndrome; OFD VI to Joubert syndrome 36, OMIM:618763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.5 | FAM149B1 | Achchuthan Shanmugasundram Publications for gene: FAM149B1 were set to 30905400; 34828254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.4 | FAM149B1 | Achchuthan Shanmugasundram Publications for gene: FAM149B1 were set to 30905400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.3 | FAM149B1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAM149B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.3 | FAM149B1 |
Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Added comment: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18). This gene has been associated with relevant phenotypes in OMIM (MIM #618763) and Gene2Phenotype (with 'strong' rating on the DD panel).; Changed rating: GREEN; Changed publications to: 34828254; Changed phenotypes to: Joubert syndrome 36, OMIM:618763; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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| Skeletal ciliopathies v3.11 | FAM149B1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FAM149B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v3.11 | FAM149B1 | Achchuthan Shanmugasundram commented on gene: FAM149B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.15 | FAM149B1 | Eleanor Williams changed review comment from: Comment on list classification: 3 founder variant cases reported plus one other. Some functional data. Changing rating from red to amber based on the 2 independent cases reported.; to: Comment on list classification: 3 founder variant cases reported plus one other. Some functional data. Changing rating from red to amber based on the 2 independent cases reported. However, the skeletal phenotypes are polydactyly/clinodactyly only. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.15 | FAM149B1 | Eleanor Williams Classified gene: FAM149B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.15 | FAM149B1 | Eleanor Williams Added comment: Comment on list classification: 3 founder variant cases reported plus one other. Some functional data. Changing rating from red to amber based on the 2 independent cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.15 | FAM149B1 | Eleanor Williams Gene: fam149b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.14 | FAM149B1 |
Eleanor Williams gene: FAM149B1 was added gene: FAM149B1 was added to Skeletal ciliopathies. Sources: Literature Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM149B1 were set to 30905400 Phenotypes for gene: FAM149B1 were set to Joubert syndrome; oral-facial-digital syndrome; OFD VI Review for gene: FAM149B1 was set to AMBER Added comment: PMID: 30905400 - Shaheen et al 2019 - report 4 cases in which homozygous variants in the FAM149B1 gene are found in patients with a ciliopathy phenotype that most closely matches Joubert syndrome or Joubert syndrome/oral-facial-digital syndrome (OFD VI) . 3 of the cases in Consanguinity families of Arab origin have the same c.356_357del (p.Lys119Ilefs∗18) variant and haplotype analysis suggests a founder mutation. The fourth case in a Turkish family with Joubert syndrome was found to have a different homozygous truncating variant in the same gene (c.439C>T [p.Gln147∗])). Both variants are predicted to result in truncated proteins. Functional studies - FAM149B1 encodes a protein of unknown function and mutant fibroblasts were found to have normal ciliogenesis potential. But some cilia-related abnormalities were observed in these cells: abnormal accumulation IFT complex at the distal tips of the cilia, which assumed bulbous appearance, increased length of the primary cilium, and dysregulated SHH signaling. Sources: Literature |
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