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NM_015107.3(PHF8):c.529A>T (p.Lys177Ter) AND Syndromic X-linked intellectual disability Siderius type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2007
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000011546.9

Allele description [Variation Report for NM_015107.3(PHF8):c.529A>T (p.Lys177Ter)]

NM_015107.3(PHF8):c.529A>T (p.Lys177Ter)

Gene:
PHF8:PHD finger protein 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_015107.3(PHF8):c.529A>T (p.Lys177Ter)
HGVS:
  • NC_000023.11:g.54016662T>A
  • NG_021309.1:g.33475A>T
  • NM_001184896.1:c.637A>T
  • NM_001184897.2:c.529A>T
  • NM_001184898.2:c.529A>T
  • NM_015107.3:c.529A>TMANE SELECT
  • NP_001171825.1:p.Lys213Ter
  • NP_001171826.1:p.Lys177Ter
  • NP_001171827.1:p.Lys177Ter
  • NP_055922.1:p.Lys177Ter
  • NC_000023.10:g.54043095T>A
Protein change:
K177*; LYS177TER
Links:
OMIM: 300560.0003; dbSNP: rs121918523
NCBI 1000 Genomes Browser:
rs121918523
Molecular consequence:
  • NM_001184896.1:c.637A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001184897.2:c.529A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001184898.2:c.529A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015107.3:c.529A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Syndromic X-linked intellectual disability Siderius type (MRXSSD)
Synonyms:
Intellectual deficit X-linked Siderius type; Siderius Hamel syndrome; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SIDERIUS TYPE
Identifiers:
MONDO: MONDO:0010286; MedGen: C1846055; Orphanet: 85287; OMIM: 300263

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031778OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2007) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.

Abidi F, Miano M, Murray J, Schwartz C.

Clin Genet. 2007 Jul;72(1):19-22.

PubMed [citation]
PMID:
17594395
PMCID:
PMC2570350

Details of each submission

From OMIM, SCV000031778.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a male with impaired intellectual development, microcephaly, and cleft lip and palate (MRXSSD; 300263), Abidi et al. (2007) identified a 529A-T transversion in exon 6 of the PHF8 gene, resulting in a lys177-to-ter mutation. The predicted protein lacks the Jumonji-like C terminus domain and 5 nuclear localization signals. The proband's mother did not have the mutation, indicating that the mutation occurred de novo.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022