Activity
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| Fetal anomalies v6.29 | ZNHIT3 | Arina Puzriakova reviewed gene: ZNHIT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | ZNHIT3 | Sarah Graham commented on gene: ZNHIT3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.24 | ZNHIT3 | Sarah Graham reviewed gene: ZNHIT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 39252897, 28335020; Phenotypes: PEHO syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | ZNHIT3 |
Arina Puzriakova Source Expert Review Amber was added to ZNHIT3. Added phenotypes PEHO syndrome for gene: ZNHIT3 Publications for gene: ZNHIT3 were updated from 28335020; 31048081 to 39252897; 28335020; 31048081 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.36 | ZNHIT3 | Achchuthan Shanmugasundram commented on gene: ZNHIT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ZNHIT3 | Lyn Chitty reviewed gene: ZNHIT3: Rating: RED; Mode of pathogenicity: ; Publications: 28335020, 31048081; Phenotypes: PEHO syndrome, OMIM:260565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | ZNHIT3 |
Achchuthan Shanmugasundram gene: ZNHIT3 was added gene: ZNHIT3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNHIT3 were set to 28335020; 31048081 Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, OMIM:260565 |
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