| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v1.13 | TBL1XR1 | Zornitza Stark Classified gene: TBL1XR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.13 | TBL1XR1 | Zornitza Stark Gene: tbl1xr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3784 | TBL1X | Zornitza Stark Marked gene: TBL1X as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3784 | TBL1X | Zornitza Stark Gene: tbl1x has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3784 | TBL1X | Zornitza Stark Classified gene: TBL1X as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3784 | TBL1X | Zornitza Stark Gene: tbl1x has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3783 | TBL1X | Zornitza Stark reviewed gene: TBL1X: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3722 | TBL1X |
Krithika Murali gene: TBL1X was added gene: TBL1X was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TBL1X were set to 30591955; 27603907 Phenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 - MIM#301033 Review for gene: TBL1X was set to AMBER Added comment: Associated with central congenital hypothyroidism. Antenatal phenotype not reported. Thyroid hypoplasia has been noted in affected individuals. Generally diagnosed after newborn screening or later in childhood. Sources: Literature |
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| Fetal anomalies v0.3539 | TBL1XR1 | Zornitza Stark Marked gene: TBL1XR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3539 | TBL1XR1 | Zornitza Stark Gene: tbl1xr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3539 | TBL1XR1 | Zornitza Stark Phenotypes for gene: TBL1XR1 were changed from Intellectual disability with autism spectrum disorder; Pierpont syndrome to Mental retardation, autosomal dominant 41, MIM# 616944; Pierpont syndrome, MIM# 602342 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3538 | TBL1XR1 | Zornitza Stark Mode of inheritance for gene: TBL1XR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3537 | TBL1XR1 | Zornitza Stark reviewed gene: TBL1XR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 41, MIM# 616944, Pierpont syndrome, MIM# 602342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TBL1XR1 |
Zornitza Stark gene: TBL1XR1 was added gene: TBL1XR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TBL1XR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBL1XR1 were set to 26769062; 30365874; 25425123; 9450851; 23160955; 28687524; 23176139; 16007632 Phenotypes for gene: TBL1XR1 were set to Intellectual disability with autism spectrum disorder; Pierpont syndrome |
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