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  2. Renal Ciliopathies and Nephronophthisis
  3. KIAA0556
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Renal Ciliopathies and Nephronophthisis

Gene: KIAA0556

Red List (low evidence)
KIAA0556 (KIAA0556)
EnsemblGeneIds (GRCh38): ENSG00000047578
EnsemblGeneIds (GRCh37): ENSG00000047578
OMIM: 616650, Gene2Phenotype
KIAA0556 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Phenotype is predominantly neurological.
Created: 17 Jul 2021, 7:27 a.m. | Last Modified: 17 Jul 2021, 7:27 a.m.
Panel Version: 0.247

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 26, MIM# 616784

Publications

Created: 17 Jul 2021, 7:27 a.m.
Last Modified: 17 Jul 2021, 7:27 a.m.
Panel version: 0.247

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 26, MIM# 616784
OMIM
616650
Clinvar variants
Variants in KIAA0556
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kiaa0556 has been classified as Red List (Low Evidence).

17 Jul 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIAA0556 were changed from to Joubert syndrome 26, MIM# 616784

17 Jul 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIAA0556 were set to

17 Jul 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIAA0556 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kiaa0556 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIAA0556 was added gene: KIAA0556 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: KIAA0556 was set to Unknown