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  3. SLC30A7
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Joubert syndrome and other neurological ciliopathies

Gene: SLC30A7

Amber List (moderate evidence)
SLC30A7 (solute carrier family 30 member 7)
EnsemblGeneIds (GRCh38): ENSG00000162695
EnsemblGeneIds (GRCh37): ENSG00000162695
OMIM: 611149, Gene2Phenotype
SLC30A7 is in 6 panels

1 review

Naomi Baker (Victorian Clinical Genetics Services)

I don't know

PMID: 35751429: Two individuals reported with de novo variants, one missense and one delins resulting in missense. The first individual is a female with history of unilateral postaxial polydactyly, classic molar tooth sign on MRI, macrocephaly, ataxia, ocular motor apraxia, neurodevelopmental delay, and precocious puberty. The second individual had bilateral postaxial polydactyly, molar tooth sign, macrocephaly, developmental delay, and an extra oral frenulum. No functional studies reported.
Sources: Literature
Created: 14 Jul 2022, 1:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Joubert syndrome (MONDO:0018772), SLC30A7-related

Publications

Created: 14 Jul 2022, 1:37 a.m.

Panel version: 1.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Joubert syndrome (MONDO:0018772), SLC30A7-related
OMIM
611149
Clinvar variants
Variants in SLC30A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: slc30a7 has been classified as Amber List (Moderate Evidence).

14 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: slc30a7 has been classified as Amber List (Moderate Evidence).

14 Jul 2022, Gel status: 0

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

Naomi Baker (Victorian Clinical Genetics Services)

gene: SLC30A7 was added gene: SLC30A7 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature Mode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC30A7 were set to PMID: 35751429 Phenotypes for gene: SLC30A7 were set to Joubert syndrome (MONDO:0018772), SLC30A7-related Review for gene: SLC30A7 was set to AMBER