Severe microcephaly
Gene: GRM7
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: 10 Oct 2023, 2:56 p.m. | Last Modified: 10 Oct 2023, 2:56 p.m.
Panel Version: 4.33
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: There is sufficient evidence (three unrelated cases with severe microcephaly) for this gene to be promoted to GREEN rating at the next GMS review.Created: 6 Jun 2023, 4:02 p.m. | Last Modified: 6 Jun 2023, 4:02 p.m.
Panel Version: 4.25
PMID:32286009 reported eleven individuals from six unrelated families identified with three different biallelic variants and presenting with a neurodevelopmental disorder comprising severe to profound global developmental delays, intellectual disability, seizures, hypotonia, microcephaly and brain abnormalities. Head circumference measurements at time of last visit were available in eight individuals (from six families) and were consistent with microcephaly (−3.8 to −2.7 SD from mean for age). Of these four individuals from three families had severe microcephaly (head circumference beyond 3 SD from mean for age).
This gene has also been associated with relevant phenotypes in both OMIM (MIM #618922) and in Gene2Phenotype (with 'strong' rating in the DD panel).
Sources: LiteratureCreated: 6 Jun 2023, 3:52 p.m. | Last Modified: 6 Jun 2023, 4 p.m.
Panel Version: 4.23
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922
Publications
Tag Q2_23_promote_green was removed from gene: GRM7.
Source Expert Review Green was added to GRM7. Source NHS GMS was added to GRM7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: GRM7.
Gene: grm7 has been classified as Amber List (Moderate Evidence).
Publications for gene: GRM7 were set to 2248644; 32286009
gene: GRM7 was added gene: GRM7 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRM7 were set to 2248644; 32286009 Phenotypes for gene: GRM7 were set to Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922 Review for gene: GRM7 was set to GREEN