Mitochondrial disorders
Gene: SLC44A1
Not associated with phenotype in OMIM or in Gen2Phen. A homozygous variant (NM_080546.3 c.377_380del p.Ser126Metfs*8) has been reported in a child of first cousins from Turkey, who were each heterozygous (PMID 28097321)Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:38 a.m.
Panel Version: 1.423
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy
Publications
Mode of inheritance for gene: SLC44A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC44A1 were changed from mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy to mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy
Phenotypes for gene: SLC44A1 were changed from to mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy
Publications for gene: SLC44A1 were set to
gene: SLC44A1 was added gene: SLC44A1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: SLC44A1 was set to