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Fetal anomalies

Gene: NID1

Amber List (moderate evidence)
NID1 (nidogen 1)
EnsemblGeneIds (GRCh38): ENSG00000116962
EnsemblGeneIds (GRCh37): ENSG00000116962
OMIM: 131390, Gene2Phenotype
NID1 is in 2 panels

3 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

Green on Australian fetal anomalies panel, not green on any UK panel. Heterozygous variants in three families with Dandy-Walker malformation and occipital cephalocele: 23674478: Original report - heterozygous c.1162C>T, p.(Gln388*) in 14 affected members of one family with Dandy-Walker variant/cerebellar vermal hypoplasia cephalocele.30773799: Same stop gain variant as above, heterozygous in proband with arachnoid cysts and occiptal cephalocele, brother with occiptal cephalocele, mother with bony skull defect and maternal grandfather with arachnoid cysts.36702440: Heterozygous c.3336T>G, p.Asn1112Lys in three-generation family with variable manifestations of Dandy-Walker malformation and occipital cephalocele.Also two reports of biallelic variants:25558065: Homozygous c.3385+1G>A causing in-frame insertion in a proband with hydrocephalus, muscle weakness and global developmental delay.38098057: Homozygous c.3394C>T p.(Arg1132Trp) in a neonate with vein of Galen malformation.Knockout mice show neurologic defects (seizure-like symptoms and loss of muscle control in the hind legs) with structiral alterations in basement membranes of brain capillaries (PMID 12480912). Cerebellar anomalies panel - green
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Dandy-Walker malformation with occiptal cephalocele, OMIM:609222; Dandy-Walker syndrome, MONDO:0009072

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

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.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
This review was provided by Alison Male from North Thames GLH: Would be prenatal phenotype. Not green on any other panel. Limited information - amber.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hydrocephalus with or without seizures; Dandy-Walker malformation and occipital cephalocele

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.36

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Dandy-Walker malformation with occiptal cephalocele, OMIM:609222
  • Hydrocephalus with or without seizures
  • Dandy-Walker malformation and occipital cephalocele
  • Dandy-Walker syndrome, MONDO:0009072
Tags
Q3_26_promote_green
OMIM
131390
Clinvar variants
Variants in NID1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2026, Gel status: 2

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q3_26_promote_green tag was added to gene: NID1.

29 Oct 2026, Gel status: 2

Set mode of inheritance, Set Phenotypes, Set publications

Ida Ertmanska (Genomics England Curator)

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

29 Aug 2024, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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