Intellectual disability - microarray and sequencing
Gene: NEUROG1
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
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: LiteratureCreated: 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
Gene: neurog1 has been classified as Amber List (Moderate Evidence).
Gene: neurog1 has been classified as Amber List (Moderate Evidence).
Gene: neurog1 has been classified as Amber List (Moderate Evidence).
Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Tag Q3_23_promote_green tag was added to gene: NEUROG1. Tag Q3_23_NHS_review tag was added to gene: NEUROG1.
Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Publications for gene: NEUROG1 were set to 36647078; 33439489; 23419067; 26077850
Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Phenotypes for gene: NEUROG1 were changed from developmental delay; behavioural problems; cranial dysinnervation; absent corneal reflex to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
gene: NEUROG1 was added gene: NEUROG1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: NEUROG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEUROG1 were set to 36647078; 33439489; 23419067; 26077850 Phenotypes for gene: NEUROG1 were set to developmental delay; behavioural problems; cranial dysinnervation; absent corneal reflex Review for gene: NEUROG1 was set to GREEN