AP2S1

adaptor related protein complex 2 sigma 1 subunit
OMIM: 602242, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green AP2S1 in Familial hyperparathyroidism or hypocalciuric hypercalcaemia Version 3.6 Latest signed off version: v3.2 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Hypocalciuric hypercalcemia, type III, OMIM:600740
Red AP2S1 in Nephrocalcinosis or nephrolithiasis Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.13 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Hypocalciuric hypercalcemia, familial, type III, 600740 Familial hypocalciuric hypercalcemia type III
Amber AP2S1 in Unexplained young onset end-stage renal disease Version 3.40 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Phenotypes Familial hypocalciuric hypercalcemia type III 600740 Tags Q4_23_promote_green
Green AP2S1 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AP2S1-related developmental disorder (monoallelic)
Green AP2S1 in Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.17 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Familial hypocalciuric hypercalcemia type III 600740
Amber AP2S1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorder Tags watchlist