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  3. LAGE3
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Fetal anomalies

Gene: LAGE3

Green List (high evidence)
LAGE3 (L antigen family member 3)
EnsemblGeneIds (GRCh38): ENSG00000196976
EnsemblGeneIds (GRCh37): ENSG00000196976
OMIM: 300060, Gene2Phenotype
LAGE3 is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Natalie Chandler (North Thames GLH)

Green List (high evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Currently Amber on panel - reviewed 23/24 Isolated microcepaly which would not be eligible for R21. PMID 36682911one paper with clinical summary of all Primary microcephaly was noted in all 5 patients (5/5) after birth. The following minor dysmorphic features were noted but not uniform: narrow forehead (3/3), micrognathia (3/3), mid-face hypoplasia (1/5), hypertelorism (1/5), flat nasal bridge (1/5) and arachnodactyly (2/5). The neurologic presentations include developmental delay with intellectual disability (5/5), seizures (3/5), hypotonia (5/5), spasticity (1/5), swallowing difficulties (3/5), and esotropia (2/5). Various brain imaging findings include: abnormal gyri and migration disorders (2/5), cerebellar atrophy (3/5), cerebral atrophy (2/5), and thin corpus callosum (1/5).
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Galloway-Mowat syndrome 2, X-linked

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
This review was provided by Alison Male from North Thames GLH: Microcephaly. Amber unless isolated microcephaly on R21 eligibility criteria
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Galloway-Mowat syndrome 2, X-linked, OMIM:301006

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 6.120

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 2, X-linked, OMIM:301006
OMIM
300060
Clinvar variants
Variants in LAGE3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: LAGE3. Tag Q3_25_NHS_review was removed from gene: LAGE3.

12 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to LAGE3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Sep 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: LAGE3 were changed from Galloway-Mowat syndrome 2, X-linked; Galloway-Mowat syndrome 2, X-linked, OMIM:301006 to Galloway-Mowat syndrome 2, X-linked, OMIM:301006

8 Sep 2025, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: LAGE3. Tag Q3_25_NHS_review tag was added to gene: LAGE3.

5 Sep 2025, Gel status: 2

Set Phenotypes, Set publications

Arina Puzriakova (Genomics England Curator)

Added phenotypes Galloway-Mowat syndrome 2, X-linked for gene: LAGE3 Publications for gene: LAGE3 were updated from 31069511; 28805828 to 31069511; 28805828; 36682911

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: LAGE3 was added gene: LAGE3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: LAGE3 were set to 31069511; 28805828 Phenotypes for gene: LAGE3 were set to Galloway-Mowat syndrome 2, X-linked, OMIM:301006