Genomics England

AAAS

aladin WD repeat nucleoporin

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Achalasia-addisonianism-alacrimia syndrome, OMIM:231550, Triple-A syndrome, MONDO:0009279
Green in Congenital adrenal hypoplasia R-numbers: R150 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Achalasia-addisonianism-alacrimia syndrome, OMIM:231550, Triple-A syndrome, MONDO:0009279
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Achalasia-addisonianism-alacrimia syndrome, OMIM:231550, Triple-A syndrome, MONDO:0009279
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Achalasia-addisonianism-alacrimia syndrome, OMIM:231550, Triple-A syndrome, MONDO:0009279
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Achalasia-addisonianism-alacrimia syndrome, OMIM:231550, Triple-A syndrome, MONDO:0009279
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Achalasia-addisonianism-alacrimia syndrome, OMIM:231550, Triple-A syndrome, MONDO:0009279