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| Congenital hypothyroidism v0.24 | FOXE1 | Zornitza Stark Phenotypes for gene: FOXE1 were changed from Bamforth Lazarus syndrome, 241850 (hypothyroidism); Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850 to Bamforth Lazarus syndrome, MIM#241850 (hypothyroidism); Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.23 | FOXE1 | Zornitza Stark Publications for gene: FOXE1 were set to 20484477; 9697705; 24219130 (gain-of-function mutation); 9697704 (mouse model) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.22 | FOXE1 | Zornitza Stark reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28928994, 28455095, 9697705], 12165566, 16882747; Phenotypes: Bamforth-Lazarus syndrome, MIM# 241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.4 | FOXE1 | Zornitza Stark Marked gene: FOXE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.4 | FOXE1 | Zornitza Stark Gene: foxe1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.4 | FOXE1 | Zornitza Stark Phenotypes for gene: FOXE1 were changed from choanal atresia; congenital hypothyroidism; Bamforth Lazarus syndrome, 241850 (hypothyroidism); spiky hair; thyroid agenesis; Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850; cleft palate to Bamforth Lazarus syndrome, 241850 (hypothyroidism); Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.0 | FOXE1 |
Zornitza Stark gene: FOXE1 was added gene: FOXE1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOXE1 were set to 20484477; 9697705; 24219130 (gain-of-function mutation); 9697704 (mouse model) Phenotypes for gene: FOXE1 were set to choanal atresia; congenital hypothyroidism; Bamforth Lazarus syndrome, 241850 (hypothyroidism); spiky hair; thyroid agenesis; Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850; cleft palate Mode of pathogenicity for gene: FOXE1 was set to Other - please provide details in the comments |
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