AK2

adenylate kinase 2
OMIM: 103020, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green AK2 in COVID-19 research Level 2: Viral research Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 SCID v1.6 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 SCID v1.6 Phenotypes Reticular dysgenesis, AK2 deficiency Granulocytopenia and deafness Reticular dysgenesis, 267500 Reticular dysgenesis with sensorineural deafness Reticular Dysgenesis AK2 (SCID) Immunodeficiencies affecting cellular and humoral immunity
Green AK2 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.88 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 SCID v1.6 Phenotypes Reticular dysgenesis with sensorineural deafness Reticular dysgenesis, 267500 Reticular dysgenesis, AK2 deficiency Reticular Dysgenesis AK2 (SCID) Granulocytopenia and deafness Immunodeficiencies affecting cellular and humoral immunity
Green AK2 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Reticular dysgenesis, 267500
Red AK2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes RETICULAR DYSGENESIS
Green AK2 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETICULAR DYSGENESIS 267500
Amber AK2 in Intellectual disability Level 2: Developmental disorders Version 9.345 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes NA
Red AK2 in Mitochondrial disorders Level 2: Mitochondrial Version 9.46 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	Not set	Sources Expert list Phenotypes Reticular dysgenesis 267500