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Respiratory ciliopathies including non-CF bronchiectasis v4.50 TTC12 Eleanor Williams Tag Q2_25_ promote_green was removed from gene: TTC12.
Respiratory ciliopathies including non-CF bronchiectasis v4.50 TTC12 Eleanor Williams reviewed gene: TTC12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v4.49 TTC12 Eleanor Williams Source NHS GMS was added to TTC12.
Source Expert Review Green was added to TTC12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v4.41 TTC12 Achchuthan Shanmugasundram changed review comment from: TTC12 has the gene-disease validity rating of 'Definitive' in ClinGen.

PMID:36273201 - Five unrelated families with multisystem ciliopathy syndromes were studies, of which three were identified with biallelic variants in TTC12 gene. Two of them had respiratory phenotype.

PMID:37325566 - Three unrelated male patients from a large cohort of infertile Chinese males with asthenoteratozoospermia were identified with homozygous TTC12 variants. They also had a mild PCD-related nasosinusitis phenotype, which is a respiratory cilia impairment. However, they declined to undergo further investigation.

PMID:38992144 - A novel homozygous missense TTC12 variant was identified in an infertile Pakistani male with severe oligoasthenoteratozoospermia and primary ciliary dyskinesia. The patient also presented with sinusitis.; to: The ClinGen Motile Ciliopathy expert panel has classified the association of TTC12 gene to ciliary dyskinesia, primary, 45 (MONDO:0032924) as 'Definitive'. More information can be found in https://search.clinicalgenome.org/CCID:008762.

PMID:36273201 - Five unrelated families with multisystem ciliopathy syndromes were studies, of which three were identified with biallelic variants in TTC12 gene. Two of them had respiratory phenotype.

PMID:37325566 - Three unrelated male patients from a large cohort of infertile Chinese males with asthenoteratozoospermia were identified with homozygous TTC12 variants. They also had a mild PCD-related nasosinusitis phenotype, which is a respiratory cilia impairment. However, they declined to undergo further investigation.

PMID:38992144 - A novel homozygous missense TTC12 variant was identified in an infertile Pakistani male with severe oligoasthenoteratozoospermia and primary ciliary dyskinesia. The patient also presented with sinusitis.
Respiratory ciliopathies including non-CF bronchiectasis v4.8 TTC12 Achchuthan Shanmugasundram Classified gene: TTC12 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v4.8 TTC12 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (10 unrelated cases) for the association of biallelic TTC12 patients with respiratory ciliopathy. Hence, this gene can be promoted to green rating in the next GMS update.
Respiratory ciliopathies including non-CF bronchiectasis v4.8 TTC12 Achchuthan Shanmugasundram Gene: ttc12 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v4.7 TTC12 Achchuthan Shanmugasundram Tag watchlist was removed from gene: TTC12.
Tag Q2_25_ promote_green tag was added to gene: TTC12.
Respiratory ciliopathies including non-CF bronchiectasis v4.7 TTC12 Achchuthan Shanmugasundram Publications for gene: TTC12 were set to 31978331
Respiratory ciliopathies including non-CF bronchiectasis v4.6 TTC12 Achchuthan Shanmugasundram reviewed gene: TTC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 36273201, 37325566, 38992144; Phenotypes: Ciliary dyskinesia, primary, 45, OMIM:618801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong Tag for-review was removed from gene: TTC12.
Tag watchlist tag was added to gene: TTC12.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong commented on gene: TTC12: Submitted on behalf of NHS GMS "Only 6 variants in HGMD, all from the one study Thomas et al. Again as in NKE10 its not clear that full variant analysis has been done to ACGS standard, e.g. the homozygous variant c.1700T>G being described as pathogenic appear to be based on PM2 but has low frequency in gnomad and parents are related, PP3, PM1 (tricky to use in a new assocaited gene), and PS3 for study showing reduced TTC12. There is clearly strong evidence in this particular study but would argue that its too soon for inclusion in a diagnostic panel, but warrants further study. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong commented on gene: TTC12: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.37 TTC12 Ivone Leong Classified gene: TTC12 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.37 TTC12 Ivone Leong Gene: ttc12 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.36 TTC12 Ivone Leong Classified gene: TTC12 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.36 TTC12 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Respiratory ciliopathies including non-CF bronchiectasis v1.36 TTC12 Ivone Leong Gene: ttc12 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.35 TTC12 Ivone Leong Tag for-review tag was added to gene: TTC12.
Respiratory ciliopathies including non-CF bronchiectasis v1.35 TTC12 Ivone Leong Phenotypes for gene: TTC12 were changed from Ciliary dyskinesia to Ciliary dyskinesia, primary, 45, OMIM:618801; MONDO:0032924
Respiratory ciliopathies including non-CF bronchiectasis v1.7 TTC12 Zornitza Stark gene: TTC12 was added
gene: TTC12 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert list
Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC12 were set to 31978331
Phenotypes for gene: TTC12 were set to Ciliary dyskinesia
Review for gene: TTC12 was set to GREEN
gene: TTC12 was marked as current diagnostic
Added comment: Four unrelated families with LoF variants reported with a respiratory phenotype.
Sources: Expert list