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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. NEUROD1
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: NEUROD1

Green List (high evidence)
NEUROD1 (neuronal differentiation 1)
EnsemblGeneIds (GRCh38): ENSG00000162992
EnsemblGeneIds (GRCh37): ENSG00000162992
OMIM: 601724, Gene2Phenotype
NEUROD1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mono-allelic variants in this gene are associated with MODY.

Rare reports of bi-allelic variants, sometimes with permanent neonatal diabetes, but RP/retinopathy reported in three unrelated individuals. Functional data to support gene's role in retina.
Created: 12 Oct 2020, 2:16 a.m. | Last Modified: 12 Oct 2020, 2:17 a.m.
Panel Version: 0.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa; Retinopathy; Permanent neonatal diabetes

Publications

Created: 12 Oct 2020, 2:16 a.m.
Last Modified: 12 Oct 2020, 2:17 a.m.
Panel version: 0.72

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa
  • Retinopathy
  • Permanent neonatal diabetes
OMIM
601724
Clinvar variants
Variants in NEUROD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: neurod1 has been classified as Green List (High Evidence).

12 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NEUROD1 were changed from ?retinitis pigmentosa; neonatal diabetes, systematic neurological abnormalities, and early-onset retinal dystrophy to Retinitis pigmentosa; Retinopathy; Permanent neonatal diabetes

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NEUROD1 was added gene: NEUROD1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NEUROD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEUROD1 were set to 25477324; 29521454; 25684977 Phenotypes for gene: NEUROD1 were set to ?retinitis pigmentosa; neonatal diabetes, systematic neurological abnormalities, and early-onset retinal dystrophy