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Repeat Disorders

STR: RCPS

Green List (high evidence)
Chromosome: 17
GRCh37 Position: 78120803-78120938
GRCh38 Position: 80147004-80147139
Repeated Sequence: TCGGCAGCGGCGCAGCGAGG
Normal Number of Repeats: < 12
Pathogenic Number of Repeats: = or > 14

EIF4A3 (eukaryotic translation initiation factor 4A3)
EnsemblGeneIds (GRCh38): ENSG00000141543
EnsemblGeneIds (GRCh37): ENSG00000141543
OMIM: 608546, Gene2Phenotype
EIF4A3 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_014740.4(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[X]
Complex repeat motifs containing 18 or 20 nt, divided in three types: (1) a 20-nt motif, TCGGCAGCGGCACAGCGAGG; (2) a 18-nt motif, TCGGCAGCGGCAGCGAGG; and (3) another 20-nt motif that possessed a G instead of an A, TCGGCAGCGGCGCAGCGAGG. The most prevalent (97%) allelic pattern among controls is an initial CACA-20-nt repeated between 2 and 9 times, followed by one CA-18-nt, another CACA-20-nt, and one final CA-18-nt (total repeats = 5 to 12). Affected individuals exhibited the following pattern: an initial CACA-20-nt, followed by 12 to 13 repeats of CGCA-20-nt, one CACA-20-nt, and one final CA-18-nt. At least 5 Brazilian families homozygous or compound heterozygous for 14-16 total repeats or compound het with a missense variant.
Sources: Literature
Created: 5 Sep 2021, 6 a.m. | Last Modified: 5 Sep 2021, 6:03 a.m.
Panel Version: 0.128

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Robin sequence with cleft mandible and limb anomalies MIM#268305; Richieri-Costa-Pereira syndrome

Publications

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 5 Sep 2021, 6 a.m.
Last Modified: 5 Sep 2021, 6:03 a.m.
Panel version: 0.127

Details

Name
RCPS
Chromosome
17
GRCh37 Coordinates
78120803-78120938
GRCh38 Coordinates
80147004-80147139
Repeated Sequence
TCGGCAGCGGCGCAGCGAGG
Normal Number of Repeats: <
12
Pathogenic Number of Repeats: = or >
14
Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies MIM#268305
  • Richieri-Costa-Pereira syndrome
Tags
paediatric-onset
OMIM
608546
Clinvar variants
Variants in EIF4A3
Penetrance
None
Publications

History Filter Activity

8 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag paediatric-onset tag was added to STR: RCPS.

5 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: rcps has been classified as Green List (High Evidence).

5 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: rcps has been classified as Green List (High Evidence).

5 Sep 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: RCPS was added STR: RCPS was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: RCPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: RCPS were set to 24360810; 29112243 Phenotypes for STR: RCPS were set to Robin sequence with cleft mandible and limb anomalies MIM#268305; Richieri-Costa-Pereira syndrome Review for STR: RCPS was set to GREEN STR: RCPS was marked as clinically relevant