Severe microcephaly
Gene: LAGE3The 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
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
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 listCreated: 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
Tag Q3_21_rating was removed from gene: LAGE3.
Source Expert Review Green was added to LAGE3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_rating tag was added to gene: LAGE3.
Gene: lage3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: LAGE3 were changed from Galloway-Mowat syndrome 2, X-linked, MIM# 301006 to Galloway-Mowat syndrome 2, X-linked, OMIM:301006
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