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Retinal disorders

Gene: ALPK1

Green List (high evidence)

ALPK1 (alpha kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000073331
EnsemblGeneIds (GRCh37): ENSG00000073331
OMIM: 607347, Gene2Phenotype
ALPK1 is in 2 panels

3 reviews

Neringa Jurkute (MD)

Green List (high evidence)

Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individuals shared overlapping phenotype with retinal changes, chronic disc swelling observed in majority of cases.

OMIM: 614979

PMID: 30967659; 31053777; 31939038; 34159509
Created: 6 Dec 2021, 4:06 p.m. | Last Modified: 6 Dec 2021, 4:08 p.m.
Panel Version: 2.236

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinal dystrophy; optic disc swelling; splenomegaly; headaches; ocular inflammation

Publications

Mode of pathogenicity
Other

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
Comment on publications: Added new publication (PMID:31053777;34159509).
Created: 7 Dec 2021, 10:32 a.m. | Last Modified: 7 Dec 2021, 10:32 a.m.
Panel Version: 2.239
Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association; therefore, this gene has been given an Amber rating and should be promoted to Green at the next review.
Created: 6 Jan 2021, 1:19 p.m. | Last Modified: 6 Jan 2021, 1:19 p.m.
Panel Version: 2.50

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six unrelated families reported with same recurrent missense variant c.710C>T, (p.Thr237Met). Pancytopaenia and recurrent infections present in some.
Sources: Expert list
Created: 10 Oct 2020, 5:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • ROSAH syndrome, OMIM:614979
OMIM
607347
Clinvar variants
Variants in ALPK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: ALPK1. Tag Q4_21_NHS_review was removed from gene: ALPK1.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to ALPK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Dec 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_NHS_review tag was added to gene: ALPK1.

7 Dec 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ALPK1 were set to 30967659; 31939038

6 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: alpk1 has been classified as Amber List (Moderate Evidence).

6 Jan 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: ALPK1.

6 Jan 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ALPK1 were changed from ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache to ROSAH syndrome, OMIM:614979

10 Oct 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: ALPK1 was added gene: ALPK1 was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALPK1 were set to 30967659; 31939038 Phenotypes for gene: ALPK1 were set to ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache Review for gene: ALPK1 was set to GREEN gene: ALPK1 was marked as current diagnostic