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  3. DYNC1I2
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Microcephaly

Gene: DYNC1I2

Green List (high evidence)
DYNC1I2 (dynein cytoplasmic 1 intermediate chain 2)
EnsemblGeneIds (GRCh38): ENSG00000077380
EnsemblGeneIds (GRCh37): ENSG00000077380
OMIM: 603331, Gene2Phenotype
DYNC1I2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five individuals from three unrelated families reported.
Sources: Literature
Created: 12 Dec 2019, 2:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492

Publications

Created: 12 Dec 2019, 2:01 a.m.

Panel version: 0.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
OMIM
603331
Clinvar variants
Variants in DYNC1I2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dync1i2 has been classified as Green List (High Evidence).

12 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dync1i2 has been classified as Green List (High Evidence).

12 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DYNC1I2 was added gene: DYNC1I2 was added to Microcephaly_VCGS. Sources: Literature 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