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Intellectual disability syndromic and non-syndromic

Gene: SLC45A1

Green List (high evidence)

SLC45A1 (solute carrier family 45 member 1)
EnsemblGeneIds (GRCh38): ENSG00000162426
EnsemblGeneIds (GRCh37): ENSG00000162426
OMIM: 605763, Gene2Phenotype
SLC45A1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 39003656: additional individual with compound het missense variants and supportive functional data.
Created: 1 Aug 2024, 5:24 a.m. | Last Modified: 1 Aug 2024, 5:24 a.m.
Panel Version: 0.6070
Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present.

Two families reported and some functional data.
Created: 11 Apr 2021, 9:14 a.m. | Last Modified: 11 Apr 2021, 9:14 a.m.
Panel Version: 0.3632

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with neuropsychiatric features, MIM# 617532

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder with neuropsychiatric features, MIM# 617532
OMIM
605763
Clinvar variants
Variants in SLC45A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC45A1 were set to 28434495

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc45a1 has been classified as Green List (High Evidence).

11 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc45a1 has been classified as Amber List (Moderate Evidence).

11 Apr 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC45A1 were changed from to Intellectual developmental disorder with neuropsychiatric features, MIM# 617532

11 Apr 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC45A1 were set to

11 Apr 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC45A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

11 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc45a1 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC45A1 was added gene: SLC45A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC45A1 was set to Unknown