| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v1.0 | THRA | Gene migrated from ENSG00000126351 to ENSG00000126351 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.74 | Chirag Patel Added reviews for gene THRA from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.0 | THRA |
Zornitza Stark gene: THRA was added gene: THRA was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THRA were set to 27144938; 22168587; 27381958; 2567082; 24847459; 23940126; 22494134 Phenotypes for gene: THRA were set to Congenital hypothyroidism or thyroid agenesis; delayed dentition; macrocephaly; Hypothyroidism, Congenital, Nongoitrous, 6, 614450; Hypothyroidism, congenital, nongoitrous, 6, 614450; neurodevelopmental delay; Resistance to thyroid hormone; constipation; skeletal dysplasia; growth retardation; macrocytic anaemia |
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