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Mendeliome

Gene: ACTL9

Green List (high evidence)

ACTL9 (actin like 9)
EnsemblGeneIds (GRCh38): ENSG00000181786
EnsemblGeneIds (GRCh37): ENSG00000181786
ACTL9 is in 1 panel

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spermatogenic failure 53, MIM#619258

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Three families with homozygous pathogenic variants (two missense, one PTC). Single affected in each family. Functional analysis from patients shows all sperm had morphological defects, protein had reduced binding to ACTL7A
All variants very rare in gnomAD.
Sources: Literature
Created: 1 Mar 2021, 4:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fertilization failure; male infertility

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 53, MIM#619258
  • Fertilization failure
  • male infertility
Clinvar variants
Variants in ACTL9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACTL9 were changed from Fertilization failure; male infertility to Spermatogenic failure 53, MIM#619258; Fertilization failure; male infertility

1 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: actl9 has been classified as Green List (High Evidence).

1 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: actl9 has been classified as Green List (High Evidence).

1 Mar 2021, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: ACTL9 was added gene: ACTL9 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ACTL9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACTL9 were set to PMID: 33626338 Phenotypes for gene: ACTL9 were set to Fertilization failure; male infertility Review for gene: ACTL9 was set to GREEN