Pigmentary skin disorders
Gene: FLNA
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed that this gene should remain amber at this time.Created: 9 Mar 2022, 2:35 p.m. | Last Modified: 9 Mar 2022, 2:35 p.m.
Panel Version: 1.42
Pigmentary abnormalities of the skin are a feature of terminal osseous dysplasia (MIM# 300244). Although the number of unrelated cases (>3) reaches the threshold for inclusion as diagnostic-grade, FLNA is associated with multiple phenotypes which do not include pigmentary anomalies. This gene is already Green on other relevant GMS panels such as Skeletal dysplasia v2.107, which should be sufficient for detecting this phenotype. Nonetheless, as there may be some added clinical benefit of inclusion, FLNA will be flagged for review at the next GMS panel update with regard to the most appropriate rating on this panel.Created: 12 Jul 2021, 2:37 p.m. | Last Modified: 12 Jul 2021, 2:37 p.m.
Panel Version: 1.12
Comment on mode of inheritance: Terminal osseous dysplasia (associated with pigmentary skin defects) is an X-linked dominant male-lethal diseaseCreated: 12 Jul 2021, 10:59 a.m. | Last Modified: 12 Jul 2021, 10:59 a.m.
Panel Version: 1.12
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Terminal osseous dysplasia, OMIM:300244
Publications
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: FLNA; Suggested initial gene rating: Red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Gene: flna has been classified as Amber List (Moderate Evidence).
Tag Q3_21_expert_review was removed from gene: FLNA.
Publications for gene: FLNA were set to
Tag Q3_21_expert_review tag was added to gene: FLNA.
Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FLNA were changed from Terminal osseous dysplasia with pigmentary defects to Terminal osseous dysplasia, OMIM:300244
Source London North GLH was added to FLNA.
gene: FLNA was added gene: FLNA was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FLNA were set to Terminal osseous dysplasia with pigmentary defects