Activity
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7 actions
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| Fetal anomalies v8.28 | NID1 | Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: NID1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.26 | NID1 | Ida Ertmanska commented on gene: NID1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | NID1 | Sarah Graham reviewed gene: NID1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30773799, 25558065, 36702440, 12480912, 23674478; Phenotypes: Dandy-Walker malformation with occiptal cephalocele, OMIM:609222, Dandy-Walker syndrome, MONDO:0009072; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | NID1 |
Ida Ertmanska Mode of inheritance for gene NID1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes Dandy-Walker malformation with occiptal cephalocele, OMIM:609222; Dandy-Walker syndrome, MONDO:0009072 for gene: NID1 Publications for gene: NID1 were updated from 30773799; 12480912; 25558065; 23674478 to 30773799; 25558065; 36702440; 12480912; 23674478 |
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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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