Genomics England

ACTB

actin beta

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dystonia, juvenile-onset, OMIM:607371, developmental malformations-deafness-dystonia syndrome MONDO:0011823, Baraitser-Winter syndrome 1 OMIM:243310:Baraitser-Winter syndrome 1 MONDO:0009470
Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes thrombocytopenia, MONDO:0002049 (AD)
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ?Dystonia, juvenile-onset, Baraitser-Winter syndrome 1, 243310
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes BARAITSER-WINTER SYNDROME 1, BRWS1
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes BARAITSER-WINTER SYNDROME, ACTB Haploinsufficiency syndtome
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes BARAITSER-WINTER SYNDROME, ACTB Haploinsufficiency syndtome
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310, BARAITSER-WINTER SYNDROME
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Baraitser Winter syndrome (lissencephaly, pachygyria, polymicrogyria, ptosis, coloboma)
Green in Mosaic skin disorders - deep sequencing R-numbers: R327 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Baraitser-Winter syndrome 1, OMIM:243310, Baraitser-Winter syndrome 1, MONDO:0009470
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Baraitser-Winter syndrome 1, 243310