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  3. PHC1
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Microcephaly

Gene: PHC1

Amber List (moderate evidence)
PHC1 (polyhomeotic homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000111752
EnsemblGeneIds (GRCh37): ENSG00000111752
OMIM: 602978, Gene2Phenotype
PHC1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family reported with functional data.
Created: 8 Dec 2019, 7:49 p.m. | Last Modified: 8 Dec 2019, 7:49 p.m.
Panel Version: 0.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 11, primary, autosomal recessive, MIM#615414

Publications

Created: 8 Dec 2019, 7:49 p.m.
Last Modified: 8 Dec 2019, 7:49 p.m.
Panel version: 0.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 11, primary, autosomal recessive, MIM#615414
OMIM
602978
Clinvar variants
Variants in PHC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phc1 has been classified as Amber List (Moderate Evidence).

8 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PHC1 were changed from to Microcephaly 11, primary, autosomal recessive, MIM#615414

8 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phc1 has been classified as Amber List (Moderate Evidence).

8 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PHC1 were set to

8 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PHC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

8 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phc1 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: PHC1 was added gene: PHC1 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PHC1 was set to Unknown