NEUROD1

neuronal differentiation 1
OMIM: 601724, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
No list NEUROD1 in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.11	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 Tags curated_removed
Green NEUROD1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	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 Neonatal diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing UKGTN Phenotypes permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, MONDO:0012192 Maturity-onset diabetes of the young 6, OMIM:606394 Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus
Green NEUROD1 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	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 2.58 Latest signed off version: v2.2 (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, OMIM:606394 {Type 2 diabetes mellitus, susceptibility to}, OMIM:125853
Red NEUROD1 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.39 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Green NEUROD1 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.90 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Retinitis pigmentosa Retinopathy Permanent neonatal diabetes