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Intellectual disability

Gene: PHF14

Amber List (moderate evidence)
PHF14 (PHD finger protein 14)
EnsemblGeneIds (GRCh38): ENSG00000106443
EnsemblGeneIds (GRCh37): ENSG00000106443
PHF14 is in 1 panel

3 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. Additional comments from reviewing GLH (C&S): 'Only 2 unrelated patients with de novo variants and neurodevelopmental disorder. Other patients reported but in ASD cohorts. At least one more needed to upgrade to green'
Created: 30 Jan 2023, 5:50 p.m. | Last Modified: 30 Jan 2023, 5:50 p.m.
Panel Version: 4.53
Created: 30 Jan 2023, 5:50 p.m.
Last Modified: 30 Jan 2023, 5:50 p.m.
Panel version: 4.53

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35074918 reports 2 de novo PHF14 variants (NM_014660.4: c.1573A > T, p.R525* in a 5yr old boy with neurological phenotype including autistic behavior (no eye contact), no speech, and sleep disturbance & c.964T > G, p.C322G in 4 yr old girl who presented with clumsy gait, developmental delay/intellectual disability, speech delay, and an RTT-like regression in gross motor skills and balance. Functional studies showed that p.C322G completely abolished PHF14 interactions with MeCP2 and TCF20, furthermore, NIH 3T3 cells carrying this variant could not be recruited by MeCP2 to the heterochromatin foci.
Created: 26 May 2022, 11:40 a.m. | Last Modified: 26 May 2022, 11:40 a.m.
Panel Version: 3.1592
Created: 26 May 2022, 11:40 a.m.
Last Modified: 26 May 2022, 11:40 a.m.
Panel version: 3.1592

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Multiple individuals in the literature reported with NDD and de novo PHF14 variants + experimental findings (in 35074918).
Additional info from AutDB:"De novo missense variants in the PHF14 gene have been identified in an ASD proband from the SPARK cohort (Feliciano et al., 2019) and the Autism Sequencing Consortium cohort (Satterstrom et al., 2020), while additional rare de novo non-coding variation in this gene has also been observed in ASD probands (Sanders et al., 2015; Yuen et al., 2017). Zhou et al., 2022 reported that PHF14 forms a complex with MECP2 and TCF20; in the same report, the authors described two individuals with de novo variants in PHF14 who presented with neurodevelopmental phenotypes, including a patient with a de novo PHF14 missense variant that abolished the MECP2-PHF14-TCF20 interaction."
Sources: Literature, Expert list
Created: 17 May 2022, 9:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autism

Publications

Created: 17 May 2022, 9:04 a.m.

Panel version: 3.1568

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Autism
Clinvar variants
Variants in PHF14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2023, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_22_rating was removed from gene: PHF14.

30 Jan 2023, Gel status: 2

Added New Source

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to PHF14.

26 May 2022, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_22_rating tag was added to gene: PHF14.

26 May 2022, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PHF14 were set to 35074918

26 May 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: phf14 has been classified as Amber List (Moderate Evidence).

17 May 2022, Gel status: 0

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

Dmitrijs Rots (Children's Clinical University Hospital)

gene: PHF14 was added gene: PHF14 was added to Intellectual disability. Sources: Literature,Expert list Mode of inheritance for gene: PHF14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHF14 were set to 35074918 Phenotypes for gene: PHF14 were set to Autism Review for gene: PHF14 was set to GREEN