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Severe microcephaly

Gene: DYNC1I2

Amber List (moderate evidence)

DYNC1I2 (dynein cytoplasmic 1 intermediate chain 2)
EnsemblGeneIds (GRCh38): ENSG00000077380
EnsemblGeneIds (GRCh37): ENSG00000077380
OMIM: 603331, Gene2Phenotype
DYNC1I2 is in 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five individuals from three unrelated families reported.
Sources: Expert list
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with microcephaly and structural brain anomalies, OMIM:618492
Tags
Q4_21_rating
OMIM
603331
Clinvar variants
Variants in DYNC1I2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: dync1i2 has been classified as Amber List (Moderate Evidence).

25 Oct 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: DYNC1I2.

6 May 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

4 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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