Microcephaly
Gene: SLC38A3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 102, MIM# 619881
7 families 6 of whom are consanguineous but unique variants in all of them
Acquired microcephaly noted (8/10 with >-2 SD, 5/10 >-3 SD)
Sources: LiteratureCreated: 1 Feb 2022, 11:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SLC38A3 were changed from Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related to Developmental and epileptic encephalopathy 102, MIM# 619881
Gene: slc38a3 has been classified as Green List (High Evidence).
Phenotypes for gene: SLC38A3 were changed from developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062 to Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related
Gene: slc38a3 has been classified as Green List (High Evidence).
gene: SLC38A3 was added gene: SLC38A3 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: SLC38A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC38A3 were set to 34605855 Phenotypes for gene: SLC38A3 were set to developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062 Penetrance for gene: SLC38A3 were set to Complete Review for gene: SLC38A3 was set to GREEN gene: SLC38A3 was marked as current diagnostic