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Fetal anomalies

Gene: TWIST2

Green List (high evidence)
TWIST2 (twist family bHLH transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000233608
EnsemblGeneIds (GRCh37): ENSG00000233608
OMIM: 607556, Gene2Phenotype
TWIST2 is in 3 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Comment when marking as ready: Congenital conditions associated with multiple fetal anomalies including ambiguous genitalia, microtia, macrostomia
Created: 29 Dec 2021, 2:43 a.m. | Last Modified: 29 Dec 2021, 2:43 a.m.
Panel Version: 0.1616
FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin

Ablepharon-macrostomia syndrome (AMS) is an autosomal dominant congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth

Barber-Say syndrome is an autosomal dominant congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline
Created: 29 Dec 2021, 2:40 a.m. | Last Modified: 29 Dec 2021, 2:40 a.m.
Panel Version: 0.1615

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Ablepharon-macrostomia syndrome, MIM# 200110; Barber-Say syndrome, MIM# 209885; Focal facial dermal dysplasia 3, Setleis type, MIM# 227260

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Dec 2021, 2:40 a.m.
Last Modified: 29 Dec 2021, 2:40 a.m.
Panel version: 0.1615

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Ablepharon-macrostomia syndrome, 200110
  • Barber-Say syndrome, 209885
OMIM
607556
Clinvar variants
Variants in TWIST2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

29 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TWIST2 were set to 26119818

29 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TWIST2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: twist2 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TWIST2 was added gene: TWIST2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TWIST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TWIST2 were set to 26119818 Phenotypes for gene: TWIST2 were set to Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885 Mode of pathogenicity for gene: TWIST2 was set to Other