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  3. LAGE3
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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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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.
Created: 31 Aug 2020, 8:51 p.m. | Last Modified: 31 Aug 2020, 8:51 p.m.
Panel Version: 0.242

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

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

Publications

Created: 31 Aug 2020, 8:51 p.m.
Last Modified: 31 Aug 2020, 8:51 p.m.
Panel version: 0.242

Details

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

History Filter Activity

31 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lage3 has been classified as Green List (High Evidence).

31 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LAGE3 were set to

31 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LAGE3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAGE3 was added gene: LAGE3 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LAGE3 was set to Unknown