NEUROD1

neuronal differentiation 1
OMIM: 601724, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

No list NEUROD1 in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.8

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent}, 125853
  • Maturity-onset diabetes of the young 6, 606394
  • Maturity Onset Diabetes of the Young
  • Neonatal Diabetes
  • Maturity-Onset Diabetes Of The Young
  • Monogenic Diabetes

Green NEUROD1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.59

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent}, 125853
  • Maturity-onset diabetes of the young 6, 606394
  • Maturity Onset Diabetes of the Young
  • Maturity-Onset Diabetes Of The Young
  • Permanent neonatal diabetes and cerebellar agenesis
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6
  • MODY6

Green NEUROD1 in Diabetes - neonatal onset

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 2.3
Signed off v.2.2 on 19 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Permanent neonatal diabetes and cerebellar agenesis
  • Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus
  • Maturity-onset diabetes of the young 6, 606394

Green NEUROD1 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.38

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Maturity Onset Diabetes of the Young
  • {Diabetes mellitus, noninsulin-dependent}, 125853

Green NEUROD1 in Monogenic diabetes


Version 2.3
Signed off v.2.2 on 25 Feb 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Maturity-onset diabetes of the young 6, 606394
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6
  • {Diabetes mellitus, noninsulin-dependent}, 125853
  • Maturity-Onset Diabetes Of The Young
  • MODY6
  • Permanent neonatal diabetes and cerebellar agenesis
  • Maturity Onset Diabetes of the Young

Red NEUROD1 in Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.113
Signed off v.2.5 on 13 Feb 2020

review Not set
Sources
  • Expert

Amber NEUROD1 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.21
Signed off v.2.7 on 25 Feb 2020

review Not set
Sources
  • NHS GMS
  • RetNet
  • Expert Review Amber