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  3. AP1G1
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Early onset or syndromic epilepsy

Gene: AP1G1

Green List (high evidence)
AP1G1 (adaptor related protein complex 1 gamma 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000166747
EnsemblGeneIds (GRCh37): ENSG00000166747
OMIM: 603533, Gene2Phenotype
AP1G1 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
Comment on list classification: New gene added by Zornitza Stark. Usmani et al., 2021 (PMID: 34102099) identified 9 families with heterozygous and 2 families with homozygous variants in this gene. All individuals (12) had GDD and ID of various severity (mild to severe), except one patient who died at 22 days. Other features include hypotonia (9/10), seizures (6/10) and spasticity (4/10). Some supportive functional data included.

There is sufficient evidence to promote this gene to Green at the next GMS panel update, with 'monoallelic' MOI. Biallelic cases would still be picked up by the Genomics England pipeline - but this may be reviewed if additional cases are discovered.
Created: 21 Sep 2021, 1:17 p.m. | Last Modified: 21 Sep 2021, 1:17 p.m.
Panel Version: 3.1292
Created: 21 Sep 2021, 1:17 p.m.
Last Modified: 21 Sep 2021, 1:17 p.m.
Copied from panel: Intellectual disability v3.1293

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two bi-allelic homozygous missense variants were found in two distinct families with Italian and Pakistani origins; homozygous missense variants.

Eight de novo heterozygous variants were identified in nine isolated affected individuals from nine families; including five missense, two frameshift, and one intronic variant that disrupts the canonical splice acceptor site.

Knocking out AP1G1 Zebrafish model resulted in severe developmental abnormalities and increased lethality.

All individuals had neurodevelopmental disorder (NDD) including global developmental delay and ID, which varied in severity from mild to severe.

GREEN for mono-allelic, AMBER for bi-allelic.
Sources: Literature
Created: 7 Aug 2021, 7:39 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy

Publications

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

Created: 7 Aug 2021, 7:39 a.m.

Copied from panel: Intellectual disability v3.1293

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder (NDD)
  • Intellectual Disability
  • Epilepsy
OMIM
603533
Clinvar variants
Variants in AP1G1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating was removed from gene: AP1G1.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to AP1G1. Source NHS GMS was added to AP1G1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Sep 2021, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: AP1G1 was added gene: AP1G1 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review Amber Q3_21_rating tags were added to gene: AP1G1. Mode of inheritance for gene: AP1G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AP1G1 were set to 34102099 Phenotypes for gene: AP1G1 were set to Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy