13 Aug 2019
Undiagnosed metabolic disorders v1.137
FGFR2
Sarah Leigh Mode of inheritance for gene: FGFR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
13 Aug 2019
Undiagnosed metabolic disorders v1.136
FGFR2
Sarah Leigh Classified gene: FGFR2 as Green List (high evidence)
13 Aug 2019
Undiagnosed metabolic disorders v1.136
FGFR2
Sarah Leigh Added comment: Comment on list classification: Associated with 14 phenotypes in OMIM and as confirmed Gen2Phen gene for acrocephalosyndactyly type V, Antley-Bixler syndrome, Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome, familial scaphocephaly syndrome, Jackson-Weiss syndrome, lacrimo-auriculo-dento-digital syndrome. At least 44 variants reported.
13 Aug 2019
Undiagnosed metabolic disorders v1.136
FGFR2
Sarah Leigh Gene: fgfr2 has been classified as Green List (High Evidence).
13 Aug 2019
Undiagnosed metabolic disorders v1.135
FGFR2
Sarah Leigh Phenotypes for gene: FGFR2 were changed from Antley-Bixler syndrome type without disordered steroidogenesis; Arthrogryposis; Bilateral microtia; Choanal atresia; Craniosynostosis syndromes phenotypes; Deafness and congenital structural abnormalities; Unexplained skeletal dysplasia to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Bent bone dysplasia syndrome 614592; Craniofacial-skeletal-dermatologic dysplasia 101600; Craniosynostosis, nonspecific; Crouzon syndrome 123500; Gastric cancer, somatic 613659; Jackson-Weiss syndrome 123150; LADD syndrome 149730; Pfeiffer syndrome 101600; Saethre-Chotzen syndrome 101400; Scaphocephaly and Axenfeld-Rieger anomaly; Scaphocephaly, maxillary retrusion, and mental retardation 609579
13 Aug 2019
Undiagnosed metabolic disorders v1.134
FGFR2
Sarah Leigh Deleted their comment
13 Aug 2019
Undiagnosed metabolic disorders v1.134
FGFR2
Sarah Leigh Deleted their comment
13 Aug 2019
Undiagnosed metabolic disorders v1.134
FGFR2
Sarah Leigh Deleted their comment
13 Aug 2019
Undiagnosed metabolic disorders v1.134
FGFR2
Sarah Leigh Deleted their comment
13 Aug 2019
Undiagnosed metabolic disorders v1.134
FGFR2
Sarah Leigh Deleted their comment
13 Aug 2019
Undiagnosed metabolic disorders v1.134
FGFR2
Sarah Leigh Deleted their comment
13 Aug 2019
Undiagnosed metabolic disorders v1.134
FGFR2
Sarah Leigh Deleted their comment
13 Aug 2019
Undiagnosed metabolic disorders v1.134
FGFR2
Sarah Leigh Deleted their comment
13 Aug 2019
Undiagnosed metabolic disorders v1.134
FGFR2
Sarah Leigh Deleted their comment
13 Aug 2019
Undiagnosed metabolic disorders v1.134
FGFR2
Sarah Leigh Deleted their comment
13 Aug 2019
Undiagnosed metabolic disorders v1.134
FGFR2
Sarah Leigh Deleted their comment
06 Jan 2017
Undiagnosed metabolic disorders
FGFR2
Sarah Leigh edited their review of FGFR2
06 Jan 2017
Undiagnosed metabolic disorders
FGFR2
Sarah Leigh edited their review of FGFR2
06 Jan 2017
Undiagnosed metabolic disorders
FGFR2
Sarah Leigh edited their review of FGFR2
06 Jan 2017
Undiagnosed metabolic disorders
FGFR2
Sarah Leigh edited their review of FGFR2
06 Jan 2017
Undiagnosed metabolic disorders
FGFR2
Sarah Leigh edited their review of FGFR2
06 Jan 2017
Undiagnosed metabolic disorders
FGFR2
Sarah Leigh edited their review of FGFR2
06 Jan 2017
Undiagnosed metabolic disorders
FGFR2
Sarah Leigh edited their review of FGFR2
06 Jan 2017
Undiagnosed metabolic disorders
FGFR2
Sarah Leigh edited their review of FGFR2
06 Jan 2017
Undiagnosed metabolic disorders
FGFR2
Sarah Leigh edited their review of FGFR2
06 Jan 2017
Undiagnosed metabolic disorders
FGFR2
Sarah Leigh edited their review of FGFR2
06 Jan 2017
Undiagnosed metabolic disorders
FGFR2
Sarah Leigh edited their review of FGFR2
06 Jan 2017
Undiagnosed metabolic disorders
FGFR2
Sarah Leigh reviewed FGFR2