1. Panels
  2. Joubert syndrome and other neurological ciliopathies
  3. NID1
STRs in panel
Prev Next
Regions in panel
Prev Next

Joubert syndrome and other neurological ciliopathies

Gene: NID1

Amber List (moderate evidence)
NID1 (nidogen 1)
EnsemblGeneIds (GRCh38): ENSG00000116962
EnsemblGeneIds (GRCh37): ENSG00000116962
OMIM: 131390, Gene2Phenotype
NID1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

NID1 encodes an extracellular matrix protein, not specifically linked to cilia. Occipital encephalocoele: phenotypic overlap with ciliopathies.
Created: 4 May 2020, 2:50 a.m. | Last Modified: 4 May 2020, 2:50 a.m.
Panel Version: 0.30

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 4 May 2020, 2:50 a.m.
Last Modified: 4 May 2020, 2:50 a.m.
Panel version: 0.30

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Dandy-Walker malformation and occipital cephalocele
  • Hydrocephalus with or without seizures
OMIM
131390
Clinvar variants
Variants in NID1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nid1 has been classified as Amber List (Moderate Evidence).

4 May 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NID1 were changed from to Dandy-Walker malformation and occipital cephalocele; Hydrocephalus with or without seizures

4 May 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NID1 were set to

4 May 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NID1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nid1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NID1 was added gene: NID1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NID1 was set to Unknown