1. Panels
  2. Intellectual disability
  3. GEMIN4
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: GEMIN4

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

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.
Panel Version: 8.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 6:15 p.m.
Last Modified: 24 Feb 2025, 6:15 p.m.
Panel version: 8.97

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are 12 unrelated families and three different GEMIN4 variants reported in the literature. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 19 Jul 2024, 7:56 p.m. | Last Modified: 19 Jul 2024, 7:56 p.m.
Panel Version: 6.68
PMID:35861185 provided a retrospective review of 16 patients from 11 unrelated Saudi consanguineous families with GEMIN4 variants., of which five patients were previously reported. Only two missense homozygous pathogenic variants (p.Pro105Leu and p.Trp818Arg) were reported in these patients, which suggests founder effect. All patients shared global developmental delay with variable ophthalmological, renal, and skeletal manifestations.

PMID:35052432 reported the identification of a novel homozygous variant (p.His147Arg) in two siblings from a consanguineous Saudi family. Both of them presented with global developmental delay, seizures, microcephaly and cataract.

This gene has been associated with relevant phenotypes in OMIM (MIM #617913) and Gene2Phenotype (with 'strong' rating on the DD panel).
Created: 19 Jul 2024, 5:38 p.m. | Last Modified: 19 Jul 2024, 7:45 p.m.
Panel Version: 6.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913

Publications

Created: 19 Jul 2024, 5:38 p.m.
Last Modified: 19 Jul 2024, 7:45 p.m.
Panel version: 6.65

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
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

Created: 22 Jun 2018, 11:01 a.m.

Panel version: 2.109

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
Tags
founder-effect
OMIM
606969
Clinvar variants
Variants in GEMIN4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: GEMIN4.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to GEMIN4. Source Expert Review Green was added to GEMIN4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

19 Jul 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

19 Jul 2024, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: GEMIN4 were set to 25558065; 27878435

19 Jul 2024, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: GEMIN4.

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