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  3. KLHL7
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Microcephaly

Gene: KLHL7

Amber List (moderate evidence)
KLHL7 (kelch like family member 7)
EnsemblGeneIds (GRCh38): ENSG00000122550
EnsemblGeneIds (GRCh37): ENSG00000122550
OMIM: 611119, Gene2Phenotype
KLHL7 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Overall IUGR rather than microcephaly, head sizes when reported appear to be in the -1-2SD range.
Created: 1 Sep 2020, 5:19 a.m. | Last Modified: 1 Sep 2020, 5:19 a.m.
Panel Version: 0.249

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PERCHING syndrome, MIM# 617055

Publications

Created: 1 Sep 2020, 5:19 a.m.
Last Modified: 1 Sep 2020, 5:19 a.m.
Panel version: 0.249

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • PERCHING syndrome, MIM# 617055
OMIM
611119
Clinvar variants
Variants in KLHL7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klhl7 has been classified as Amber List (Moderate Evidence).

1 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KLHL7 were changed from to PERCHING syndrome, MIM# 617055

1 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KLHL7 were set to

1 Sep 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KLHL7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

1 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klhl7 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KLHL7 was added gene: KLHL7 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KLHL7 was set to Unknown