Intellectual disability
Gene: NEUROG1

NEUROG1 (neurogenin 1)
EnsemblGeneIds (GRCh38): ENSG00000181965
EnsemblGeneIds (GRCh37): ENSG00000181965
OMIM: 601726, Gene2Phenotype
NEUROG1 is in 2 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.

Panel Version: 6.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 3 May 2024, 11:55 a.m.
Last Modified: 3 May 2024, 11:55 a.m.
Panel version: 6.11

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are four unrelated cases reported with global developmental delay/ intellectual disability. Hence, this gene can be promoted to green rating in the next GMS review.
Created: 29 Aug 2023, 8:17 p.m. | Last Modified: 29 Aug 2023, 8:17 p.m.

Panel Version: 5.268

PMID:23419067 - A homozygous micro deletion of NEUROG1 was identified in a six year-old boy presenting with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild global developmental delay. His IQ was normal.

PMID:26077850 - A homozygous NEUROG1 variant (p.Arg116Leu) was identified in a 12 year-old boy presented with syndromic corneal opacity, mild intellectual disability and absent corneal reflex.

PMID:33439489 - A homozygous loss-of-function variant (p.Glu68Ter) was identified in a 12 year-old boy presenting with hypotonia, global developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. This patient had a global IQ of 62 at the age of ten.

PMID:36647078 - A female proband was identified with a novel homozygous truncating frameshift variant (p.Thr78ProfsTer122 and was reported with profound global developmental delay, autism spectrum disorder, hearing loss, corneal opacity and no eye blinking. Her sister also had a similar, but less severe phenotype and also harboured the same variant at homozygous state.

This gene has been associated with relevant phenotypes in OMIM (MIM #620469), but not in Gene2Phenotype.
Created: 29 Aug 2023, 8:12 p.m. | Last Modified: 29 Aug 2023, 8:12 p.m.

Panel Version: 5.264

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469

Publications

Created: 29 Aug 2023, 8:12 p.m.
Last Modified: 29 Aug 2023, 8:12 p.m.
Panel version: 5.264

Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

Green List (high evidence)

Five affected individuals from four independently reported families (Middle Eastern, Portuguese, Indian and Turkish backgrounds) with biallelic microdeletion, missense, nonsense or frameshift variants.

Affected individuals present at birth or in early infancy with corneal opacities due to absent blinking, sensorineural deafness associated with hypoplastic or malformed cochlea and hypoplasia or agenesis of CN VIII was reported. Developmental delay, poor speech, autistic behavior and dysmorphic facial features were also present.
Sources: Literature
Created: 21 Aug 2023, 3:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
developmental delay; behavioural problems; cranial dysinnervation; absent corneal reflex

Publications

Created: 21 Aug 2023, 3:55 p.m.

Panel version: 5.256

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469

OMIM

601726

Clinvar variants

Variants in NEUROG1

Penetrance

None

Publications

Panels with this gene