SLC30A7

solute carrier family 30 member 7
OMIM: 611149, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red SLC30A7 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Ziegler-Huang syndrome, MIM# 620501

Amber SLC30A7 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome (MONDO:0018772), SLC30A7-related

Amber SLC30A7 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome (MONDO:0018772), SLC30A7-related

Amber SLC30A7 in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome (MONDO:0018772), SLC30A7-related

Amber SLC30A7 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome (MONDO:0018772), SLC30A7-related

Red SLC30A7 in Growth failure


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Ziegler-Huang syndrome, MIM# 620501

Amber SLC30A7 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome (MONDO:0018772), SLC30A7-related