Genomics England

gelsolin

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Amyloidosis, Finnish type, OMIM:105120, Finnish type amyloidosis, MONDO:0007097
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Amyloidosis, Finnish type, OMIM:105120, Finnish type amyloidosis, MONDO:0007097
Green in Corneal dystrophy R-numbers: R262 Signed-off version 3.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Amyloidosis, Finnish type, OMIM:105120
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Amyloidosis, Finnish type, OMIM:105120, cranial neuropathy, peripheral neuropathy, cutis laxa, cardiomyopathy, MONDO:0004994, arrhythmia
Green in Hereditary systemic amyloidosis Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R204 Signed-off version 1.22	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Amyloidosis, Finnish type, OMIM:105120