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Severe microcephaly

Gene: NAA20

Amber List (moderate evidence)

NAA20 (N(alpha)-acetyltransferase 20, NatB catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000173418
EnsemblGeneIds (GRCh37): ENSG00000173418
OMIM: 610833, Gene2Phenotype
NAA20 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

Comment on phenotypes: Currently there is no phenotype associated with this gene in OMIM, Gen2Phen or MONDO (13/07/2021).
Created: 13 Jul 2021, 11:08 a.m. | Last Modified: 13 Jul 2021, 11:09 a.m.
Panel Version: 2.219
Not associated with a phenotype in OMIM nor Gen2Phen. Two missense variants reported as homozygotes in one family each. In silico predictions and in vitro functional studies provide evidence that these variants will adversely affect their capacity to form a NatB complex with NAA25, and in vitro acetylation assays revealed reduced catalytic activities toward different NatB substrates (PMID 34230638). Children from these two families had developmental delay, intellectual disability (mild to moderate family 1, severe family 2).
The two children in family 1 in this study had a head circumcernces of -2.3 & -1.9 SD (which is not regarded as severe microcephaly).
The three children from family 2 in this study had a head circumcernces of -3.5, -3.0 & -3.5 SD (which is regarded as severe microcephaly). Subtle dysmorphic features were also reported.
Sources: Literature
Created: 13 Jul 2021, 11:05 a.m. | Last Modified: 13 Jul 2021, 11:20 a.m.
Panel Version: 2.220

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autosomal recessive developmental delay, intellectual disability, and microcephaly

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • autosomal recessive developmental delay, intellectual disability, and microcephaly
OMIM
610833
Clinvar variants
Variants in NAA20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: naa20 has been classified as Amber List (Moderate Evidence).

13 Jul 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NAA20 were changed from autosomal recessive developmental delay, intellectual disability, and microcephaly to autosomal recessive developmental delay, intellectual disability, and microcephaly

13 Jul 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: NAA20 was added gene: NAA20 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: NAA20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAA20 were set to 34230638 Phenotypes for gene: NAA20 were set to autosomal recessive developmental delay, intellectual disability, and microcephaly Review for gene: NAA20 was set to AMBER