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Intellectual disability

Gene: IQSEC3

No list

IQSEC3 (IQ motif and Sec7 domain 3)
EnsemblGeneIds (GRCh38): ENSG00000120645
EnsemblGeneIds (GRCh37): ENSG00000120645
OMIM: 612118, Gene2Phenotype
IQSEC3 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated families, no functional data.
Sources: Expert list
Created: 8 Feb 2020, 7:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Intellectual disability
OMIM
612118
Clinvar variants
Variants in IQSEC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: IQSEC3 was added gene: IQSEC3 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: IQSEC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IQSEC3 were set to 31130284 Phenotypes for gene: IQSEC3 were set to Intellectual disability Review for gene: IQSEC3 was set to AMBER