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Limb disorders v1.123 GZF1 Eleanor Williams Classified gene: GZF1 as Red List (low evidence)
Limb disorders v1.123 GZF1 Eleanor Williams Added comment: Comment on list classification: Keeping red. Genomics England clinical team note this is not a particularly limb-predominant phenotype, and is better suited to the skeletal dysplasia/Stickler syndrome panels.
Limb disorders v1.123 GZF1 Eleanor Williams Gene: gzf1 has been classified as Red List (Low Evidence).
Limb disorders v1.44 GZF1 Eleanor Williams Publications for gene: GZF1 were set to
Limb disorders v1.43 GZF1 Eleanor Williams Phenotypes for gene: GZF1 were changed from to Joint laxity, short stature, and myopia, 617662; Larsen syndrome
Limb disorders v1.42 GZF1 Eleanor Williams changed review comment from: Associated with Joint laxity, short stature, and myopia (#617662) in OMIM and Larsen syndrome (probable) in Gene2Phenotype.

PMID: 28475863 - Patel et al 2017 - 2 cases. Family 1 - a multiplex consanguineous Saudi family affected by severe and recurrent large joint dislocation and severe myopia. The index patient also had severe kyphoscoliosis. Both the index patient and her brother had short stature. A homozygous truncating variant in GZF1 was identified (c.865G>T (pGlu289∗). Family 2 - another multiplex consanguineous family affected by severe myopia, retinal detachment, and milder skeletal involvement (generalized joint laxity). A second homozygous truncating GZF1 variant was identified (c.1054dup (p.Thr352Asnfs∗50). Neither variant was present in 2,379 Saudi exomes or the Exome Aggregation Consortium (ExAC) Browser. In functional studies they found using immunofluorescence, strong localization of GZF1 in the developing mouse eye and, to a lesser extent, in the mesenchyme of the developing mouse limb buds. Using 3 patient-derived lymphoblastoid cell lines they found 1,095 genes to be dysregulated in affected individuals.; to: Associated with Joint laxity, short stature, and myopia (#617662) in OMIM and Larsen syndrome (probable) in Gene2Phenotype.

PMID: 28475863 - Patel et al 2017 - 2 cases. Family 1 - a multiplex consanguineous Saudi family affected by severe and recurrent large joint dislocation and severe myopia. The index patient also had severe kyphoscoliosis. Both the index patient and her brother had short stature and bilateral talipes equinovarus deformity. A homozygous truncating variant in GZF1 was identified (c.865G>T (pGlu289∗). Family 2 - another multiplex consanguineous Saudi family affected by severe myopia, retinal detachment, and milder skeletal involvement (generalized joint laxity). 1 family member had bilateral talipes. A second homozygous truncating GZF1 variant was identified (c.1054dup (p.Thr352Asnfs∗50). Neither variant was present in 2,379 Saudi exomes or the Exome Aggregation Consortium (ExAC) Browser. In functional studies they found using immunofluorescence, strong localization of GZF1 in the developing mouse eye and, to a lesser extent, in the mesenchyme of the developing mouse limb buds. Using 3 patient-derived lymphoblastoid cell lines they found 1,095 genes to be dysregulated in affected individuals.
Limb disorders v1.42 GZF1 Eleanor Williams commented on gene: GZF1: Associated with Joint laxity, short stature, and myopia (#617662) in OMIM and Larsen syndrome (probable) in Gene2Phenotype.

PMID: 28475863 - Patel et al 2017 - 2 cases. Family 1 - a multiplex consanguineous Saudi family affected by severe and recurrent large joint dislocation and severe myopia. The index patient also had severe kyphoscoliosis. Both the index patient and her brother had short stature. A homozygous truncating variant in GZF1 was identified (c.865G>T (pGlu289∗). Family 2 - another multiplex consanguineous family affected by severe myopia, retinal detachment, and milder skeletal involvement (generalized joint laxity). A second homozygous truncating GZF1 variant was identified (c.1054dup (p.Thr352Asnfs∗50). Neither variant was present in 2,379 Saudi exomes or the Exome Aggregation Consortium (ExAC) Browser. In functional studies they found using immunofluorescence, strong localization of GZF1 in the developing mouse eye and, to a lesser extent, in the mesenchyme of the developing mouse limb buds. Using 3 patient-derived lymphoblastoid cell lines they found 1,095 genes to be dysregulated in affected individuals.
Limb disorders v1.24 GZF1 Andrew Wilkie reviewed gene: GZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.19 GZF1 Eleanor Williams gene: GZF1 was added
gene: GZF1 was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list