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Mendeliome

Gene: SLC30A9

Green List (high evidence)

SLC30A9 (solute carrier family 30 member 9)
EnsemblGeneIds (GRCh38): ENSG00000014824
EnsemblGeneIds (GRCh37): ENSG00000014824
OMIM: 604604, Gene2Phenotype
SLC30A9 is in 4 panels

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID:37041080 - 2 families previously reported and this paper describes 4 more with biallelic SLC30A9 variants. Original 2 families: 6 affected members all hom for Ala350del, and 1 affected member chet for 2 frameshifts. 4 families from this paper: 2 families have the same homozygous missense (Gly418Val), family 3 has 4 affected sibs hom for Ala350del, family 4 1 affected chet for a frameshift and a synonymous. So 2 fams homs for Ala350del and 2 fams hom for Gly418Val.
All have Brik-Landau-Perez syndrome: all with ID, movement disorder and dystonia, and many with oculomotor apraxia, renal abnormalitie, ptosis, some had hearing impairment.
Sources: Literature
Created: 4 May 2023, 2:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Birk-Landau-Perez syndrome (MIM#617595)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Birk-Landau-Perez syndrome (MIM#617595)
OMIM
604604
Clinvar variants
Variants in SLC30A9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc30a9 has been classified as Green List (High Evidence).

4 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc30a9 has been classified as Green List (High Evidence).

4 May 2023, Gel status: 0

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

Lucy Spencer (Victorian Clinical Genetics Services)

gene: SLC30A9 was added gene: SLC30A9 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SLC30A9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A9 were set to 37041080 Phenotypes for gene: SLC30A9 were set to Birk-Landau-Perez syndrome (MIM#617595) Review for gene: SLC30A9 was set to GREEN