Activity
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| Fetal anomalies v4.36 | NID1 | Achchuthan Shanmugasundram commented on gene: NID1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. 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, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NID1 | Achchuthan Shanmugasundram reviewed gene: NID1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30773799, 12480912, 25558065, 23674478; Phenotypes: Hydrocephalus with or without seizures, Dandy-Walker malformation and occipital cephalocele; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | NID1 |
Achchuthan Shanmugasundram gene: NID1 was added gene: NID1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NID1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NID1 were set to 30773799; 12480912; 25558065; 23674478 Phenotypes for gene: NID1 were set to Hydrocephalus with or without seizures; Dandy-Walker malformation and occipital cephalocele |
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