Microcephaly
Gene: FLVCR1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MIM#621060
A study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present.
Sources: LiteratureCreated: 3 Oct 2024, 6:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: FLVCR1 were changed from neurodevelopmental disorder MONDO:0700092, FLVCR1-related to Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MIM#621060
Gene: flvcr1 has been classified as Green List (High Evidence).
Gene: flvcr1 has been classified as Green List (High Evidence).
Gene: flvcr1 has been classified as Green List (High Evidence).
gene: FLVCR1 was added gene: FLVCR1 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR1 were set to 39306721 Phenotypes for gene: FLVCR1 were set to neurodevelopmental disorder MONDO:0700092, FLVCR1-related Review for gene: FLVCR1 was set to GREEN gene: FLVCR1 was marked as current diagnostic