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  3. LAGE3
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Severe microcephaly

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

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
Created: 10 Mar 2022, 1:37 p.m.
Last Modified: 10 Mar 2022, 1:37 p.m.
Panel version: 2.292

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (possible). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 20 Sep 2021, 1:43 p.m. | Last Modified: 20 Sep 2021, 1:43 p.m.
Panel Version: 2.241
Created: 20 Sep 2021, 1:43 p.m.
Last Modified: 20 Sep 2021, 1:43 p.m.
Panel version: 2.241

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. At least three unrelated families and a mouse model.
Sources: Expert list
Created: 1 Sep 2020, 5:13 a.m.

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

Phenotypes
Galloway-Mowat syndrome 2, X-linked, MIM# 301006

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Sep 2020, 5:13 a.m.

Panel version: 2.19

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
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

10 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_rating was removed from gene: LAGE3.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

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

20 Sep 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: LAGE3.

20 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: lage3 has been classified as Amber List (Moderate Evidence).

20 Sep 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

1 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: LAGE3 was added gene: LAGE3 was added to Severe microcephaly. Sources: Expert list 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 28805828 Phenotypes for gene: LAGE3 were set to Galloway-Mowat syndrome 2, X-linked, MIM# 301006 Review for gene: LAGE3 was set to GREEN