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| Fetal anomalies v2.0 | NARS1 | Gene symbol changed from NARS to NARS1 during gene set migration (ENSG00000134440 -> ENSG00000134440) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.4 | NARS |
Krithika Murali gene: NARS was added gene: NARS was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NARS were set to 32738225; 32788587 Phenotypes for gene: NARS were set to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive - MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant - MIM#619092 Review for gene: NARS was set to GREEN Added comment: HGNC approved gene symbol - NARS1 Both mono allelic and biallelic variants associated with a progressive neurological disorder with onset in infancy. Antenatal features reported. PMID 32738225 - reports roband with de novo heterozygous variant - IUGR and oligohydramnios noted prenatally. At birth noted to have low weight and OFC for gestational age. Proband with homozygous variant diagnosed with microcephaly, seizures and FTT in the neonatal period. Proband with compound het variants born with a low weight (-2.38 SD) and height (-3.76 SD) for gestational age. Review of supplementary material table - microcephaly at birth reported in 17 unrelated families. Sources: Literature |
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