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Intellectual disability

Gene: GEMIN4

Amber List (moderate evidence)

GEMIN4 (gem nuclear organelle associated protein 4)
EnsemblGeneIds (GRCh38): ENSG00000179409
EnsemblGeneIds (GRCh37): ENSG00000179409
OMIM: 606969, Gene2Phenotype
GEMIN4 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to amber based on new evidence. PMID: 27878435 reported on different variant found in a patient with cataracts, global developmental delay and ataxia.
Created: 27 Aug 2019, 10:47 a.m. | Last Modified: 27 Aug 2019, 10:47 a.m.
Panel Version: 2.1017
PMID: 25558065, reported on 3 families of Arab descent with histories of neurogenetic diagnosis and consanguineous parents. All 3 cases have the same missense variant. There are currently no functional studies or animal studies. Therefore, this gene should be kept as red until further evidence of a different variant or in a different population is found.
Created: 26 Jun 2019, 12:51 p.m. | Last Modified: 26 Jun 2019, 12:51 p.m.
Panel Version: 2.887

Zornitza Stark (Australian Genomics)

Green List (high evidence)

5 individuals from three families with bi-allelic variants described in the literature, ID is part of the phenotype.
Created: 22 Jun 2018, 11:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities

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, cataracts, and renal abnormalities, 617913
Tags
founder-effect
OMIM
606969
Clinvar variants
Variants in GEMIN4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gemin4 has been classified as Amber List (Moderate Evidence).

27 Aug 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GEMIN4 were set to 25558065

27 Jun 2019, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag founder-effect tag was added to gene: GEMIN4.

26 Jun 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GEMIN4 were changed from Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to GEMIN4.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

GEMIN4 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

GEMIN4 was created by Zornitza Stark