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Newborns main panel

Gene: PHKA1

Amber List (moderate evidence)
PHKA1 (phosphorylase kinase regulatory subunit alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000067177
EnsemblGeneIds (GRCh37): ENSG00000067177
OMIM: 311870, Gene2Phenotype
PHKA1 is in 8 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.
Panel Version: 0.137
PMID: 36034300 - reports 3 cases and review 13 others from literature
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
MOI reviewed by clinical team. Mafalda Gomes comment: No symptoms have been reported in females who are heterozygous for a PHKA1 pathogenic variant, although development of symptoms may occur, in theory, if skewed X-chromosome inactivation is present.
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.
Panel Version: 0.40

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PHKA1. Added phenotypes Muscle glycogenosis for gene: PHKA1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PHKA1. Added phenotypes Muscle glycogenosis for gene: PHKA1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PHKA1. Added phenotypes Muscle glycogenosis for gene: PHKA1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PHKA1. Added phenotypes Muscle glycogenosis for gene: PHKA1 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: PHKA1 was added gene: PHKA1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females