Intellectual disability
Gene: SLC30A9

SLC30A9 (solute carrier family 30 member 9)
EnsemblGeneIds (GRCh38): ENSG00000014824
EnsemblGeneIds (GRCh37): ENSG00000014824
OMIM: 604604, Gene2Phenotype
SLC30A9 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.
Created: 28 Jul 2023, 7:20 a.m. | Last Modified: 28 Jul 2023, 7:20 a.m.

Panel Version: 5.215

PMID:28334855 - Six patients from a large multigenerational Bedouin kindred had onset of different combinations of intellectual disability, muscle weakness, oculomotor apraxia, and nephropathy in early childhood and they were identified with a homozygous variant in SLC30A9 gene (c.1047_1049delGCA; p.A350del).

PMID:34716203 - A girl of African-American descent was identified with compound heterozygous variants in SLC30A9 gene (c.40delA & c.86_87dupCC) and was reported with a cerebrorenal syndrome. She presented around one year of age with microcephaly and global developmental delay. She also had bilateral sensorineural hearing loss and later developed dystonic movements affecting the whole body.

PMID:37041080 - Eight individuals from four unrelated families were reported with SLC30A9-related disease and they presented with intellectual disability and progressive hyperkinetic movement disorder, associated with oculomotor apraxia and ptosis despite phenotypic variability. The two families of British Pakistani descent harboured homozygous c.1253G>T (p.Gly418Val) variant, Egyptian Palestinian family harboured homozygous c.1049delCAG (pAla350del) variant, while family of European Australian descent had compound heterozygous variants (c.1083dup/ p.Val362Cysfs*5, and c.1413A>G/ p.Ser471=).

This gene has been associated with relevant phenotypes in OMIM (MIM #617595), but not yet in Gene2Phenotype.
Created: 28 Jul 2023, 7:15 a.m. | Last Modified: 28 Jul 2023, 7:15 a.m.

Panel Version: 5.211

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Birk-Landau-Perez syndrome, OMIM:617595

Publications

Created: 28 Jul 2023, 7:15 a.m.
Last Modified: 28 Jul 2023, 7:19 a.m.
Panel version: 5.211

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.

Panel Version: 6.11

Associated with phenotype in OMIM, not in G2P. At one variant reported in a large Bedouin tribe with a complex phenotype, including intellectual disability, muscle weakness, oculomotor apraxia, and nephropathy in early childhood
Created: 5 Sep 2017, 9:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Birk-Landau-Perez syndrome 617595

Publications

28334855

Created: 5 Sep 2017, 9:48 a.m.

Panel version: 6.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Literature

Phenotypes

Birk-Landau-Perez syndrome, OMIM:617595

OMIM

604604

Clinvar variants

Variants in SLC30A9

Penetrance

Complete

Publications

Panels with this gene