ACTG1

actin gamma 1
OMIM: 102560, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green ACTG1 in Malformations of cortical development Level 2: Neurology Version 7.39 Latest signed off version: v7.0 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert Review Phenotypes Baraitser Winter Syndrome
Green ACTG1 in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.51	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Baraitser-Winter syndrome 2, 614583
Green ACTG1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes BARAITSER-WINTER SYNDROME
Green ACTG1 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.4 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Baraitser-Winter syndrome 2, OMIM:614583 Tags missense
Green ACTG1 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARAITSER-WINTER SYNDROME
Green ACTG1 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list 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 ACTG1 in Clefting Level 2: Musculoskeletal Version 6.23 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes BARAITSER-WINTER SYNDROME 2 BRWS2
Green ACTG1 in Intellectual disability Level 2: Developmental disorders Version 9.345 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Deafness, autosomal dominant 20/26, 604717Baraitser-Winter syndrome 2, 614583 BARAITSER-WINTER SYNDROME
Green ACTG1 in Structural eye disease Level 2: Ophthalmology Version 4.40 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Baraitser-Winter syndrome 2, 614583