Genomics England

ACTG1

actin gamma 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes BARAITSER-WINTER SYNDROME 2, BRWS2
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes BARAITSER-WINTER SYNDROME
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes BARAITSER-WINTER SYNDROME
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Deafness, autosomal dominant 20/26, 604717Baraitser-Winter syndrome 2, 614583, BARAITSER-WINTER SYNDROME
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Baraitser Winter Syndrome
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.42	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes hearing loss, Deafness, autosomal dominant 20/26, 604717, Baraitser-Winter syndrome 2, 614583, #604717, Hearing loss, sensorineural, bilateral, progressive, Hearing loss begins with loss of high frequencies, Audiogram shows sloping configuration, Deafness, profound, by 6th decade, Trigonocephaly/metopic ridge, Prominent/full/wide cheeks, Pointed chin, Retrognathia (in some patients), Abnormally shaped ears, Deafness (in some patients), Microphthalmia (in some patients), Arched eyebrows, Long palpebral fissures, Eye coloboma (in some patients), Hypertelorism/telecanthus, Ptosis, Short, upturned nose, Large, squared nose tip, Prominent nasal root on profile, Thick/prominent/everted lower lipCleft lip/palate (in some patients), Long philtrum, Thin upper lip, Large mouth, Short neck (in some patients), Pterygium colli (in some patients), Heart defect (in some patients), Kyphosis/scoliosis (in some patients), Pectus (in some patients), Enlarged ventricles (in some patients), Intellectual disabilityPachygyria/lissencephalyAgenesis of corpus callosum (in some patients), Epilepsy
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Baraitser-Winter syndrome 2, OMIM:614583
Green in Structural eye disease R-numbers: R36 Signed-off version 3.79	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Baraitser-Winter syndrome 2, 614583