Severe microcephaly
Gene: DYNC1I2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). There is sufficient evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 25 Oct 2021, 9:41 a.m. | Last Modified: 25 Oct 2021, 9:41 a.m.
Panel Version: 2.267
Five individuals from three unrelated families reported.
Sources: Expert listCreated: 4 Sep 2020, 10:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q4_21_rating was removed from gene: DYNC1I2.
Source Expert Review Green was added to DYNC1I2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: dync1i2 has been classified as Amber List (Moderate Evidence).
Tag Q4_21_rating tag was added to gene: DYNC1I2.
Phenotypes for gene: DYNC1I2 were changed from Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 to Neurodevelopmental disorder with microcephaly and structural brain anomalies, OMIM:618492
gene: DYNC1I2 was added gene: DYNC1I2 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYNC1I2 were set to 31079899 Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 Review for gene: DYNC1I2 was set to GREEN gene: DYNC1I2 was marked as current diagnostic