| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v0.101 | GBP1 | Chirag Patel Marked gene: GBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.101 | GBP1 | Chirag Patel Gene: gbp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.101 | GBP1 | Chirag Patel reviewed gene: GBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34194003; Phenotypes: Congenital hypothyroidism, MONDO:0018612; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.101 | GBP1 | Chirag Patel Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.101 | GBP1 | Chirag Patel Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.101 | GBP1 | Chirag Patel Mode of inheritance for gene: GBP1 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.100 | GBP1 | Chirag Patel Classified gene: GBP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.100 | GBP1 | Chirag Patel Gene: gbp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.99 | GBP1 |
Chirag Patel gene: GBP1 was added gene: GBP1 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: GBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBP1 were set to 34194003 Phenotypes for gene: GBP1 were set to Congenital hypothyroidism, MONDO:0018612 Review for gene: GBP1 was set to AMBER Added comment: PMID 34194003 reports 3 individuals from 3 unrelated families presenting with congenital hypothyroidism (neonatal onset, elevated TSH, low thyroid hormone, thyroid dysgenesis or diffuse hypoechoic thyroid). 1 individual had biallelic variants (p.E336fs and p.H150Y1) with parents as heterozygous unaffected carriers. The other 2 individuals had a heterozygous variant (p.R20X or p.L187P) inherited from an unaffected parent. Methylation-specific PCR and pyrosequencing found the CpG site of GBP1 was hypermethylated in the genomic DNA isolated from the 2 probands compared with their euthyroid parents. Zebrafish morpholino knockdown of gbp1 causes thyroid primordium malformation and hypothyroidism. The phenotype was rescued by wild‑type human GBP1 mRNA but not by mutant p.H150Y or p.L187P. Human TPC1 thyroid cells expressing mutant GBP1 show mislocalisation, loss of β‑catenin interaction and disrupted adhesion complex formation. Sources: Literature |
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