Bilateral congenital or childhood onset cataracts
Gene: NACC1

NACC1 (nucleus accumbens associated 1)
EnsemblGeneIds (GRCh38): ENSG00000160877
EnsemblGeneIds (GRCh37): ENSG00000160877
OMIM: 610672, Gene2Phenotype
NACC1 is in 5 panels

2 reviews

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 9:09 a.m. | Last Modified: 8 Mar 2022, 9:09 a.m.

Panel Version: 2.98

Comment 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

Created: 11 Dec 2020, 2:22 p.m.
Last Modified: 11 Dec 2020, 2:22 p.m.
Panel version: 2.98

Zornitza Stark (Australian Genomics)

Green List (high evidence)

7 unrelated individuals with recurrent de novo heterozygous missense variant c.892C>T p.(Arg298Trp). 5 out of 7 had bilateral cataracts.
Sources: Expert list
Created: 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

28132692

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Jul 2020, 8:12 a.m.

Panel version: 2.6

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, OMIM:617393, MONDO:0044306

OMIM

610672

Clinvar variants

Variants in NACC1

Penetrance

None

Publications

28132692

Panels with this gene