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Severe microcephaly

Gene: LAGE3

No list

LAGE3 (L antigen family member 3)
EnsemblGeneIds (GRCh38): ENSG00000196976
EnsemblGeneIds (GRCh37): ENSG00000196976
OMIM: 300060, Gene2Phenotype
LAGE3 is in 5 panels

1 review

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

Details

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

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