Cataracts
Gene: NACC1Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.Created: 11 Dec 2020, 2:22 p.m. | Last Modified: 11 Dec 2020, 2:22 p.m.
Panel Version: 2.24
7 unrelated individuals with recurrent de novo heterozygous missense variant c.892C>T p.(Arg298Trp). 5 out of 7 had bilateral cataracts.
Sources: Expert listCreated: 8 Jul 2020, 8:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: nacc1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: NACC1.
Phenotypes for gene: NACC1 were changed from Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination, OMIM:617393, MONDO:0044306 to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, OMIM:617393, MONDO:0044306
Phenotypes for gene: NACC1 were changed from Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393) to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination, OMIM:617393, MONDO:0044306
gene: NACC1 was added gene: NACC1 was added to Cataracts. Sources: Expert list Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NACC1 were set to 28132692 Phenotypes for gene: NACC1 were set to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393) Review for gene: NACC1 was set to GREEN gene: NACC1 was marked as current diagnostic